Table S4.
Predicted effect of phenotypically selected ENU mutations in 23 essential immune genes
| Gene symbol | Coordinate (mm10) | Base substitution | UniProt identifier | Amino acid position | Polyphen2 | SIFT | GERP | PANTHER | Condel | PANTHER | |||||
| Category | Score | Category | Score | Category | Score | subPSEC | Pdel. | Category | Score | ||||||
| Btk | ChrX:134558685 | C to T | P35991 | Q196Stop | NA | NA | NA | NA | 3.91 | NA | NA | NA | NA | NA | NA |
| Btk | ChrX:134570797 | G to A | P35991 | Intronic | NA | NA | NA | NA | 0 | NA | NA | NA | NA | NA | NA |
| Cd22 | Chr7:30870310 | T to A | P35329 | C511Stop | NA | NA | NA | NA | −0.765 | NA | NA | NA | NA | NA | NA |
| Prkdc | Chr16:15714375 | T to C | P17313 | Intronic | NA | NA | NA | NA | 0 | NA | NA | NA | NA | NA | NA |
| Prkdc | Chr16:15777109 | T to A | P17313 | Y3442Stop | NA | NA | NA | NA | 2.21 | NA | NA | NA | NA | NA | NA |
| Ptprc | Chr1:139980367 | T to A | P06800 | Intronic | NA | NA | NA | NA | 0 | NA | NA | NA | NA | NA | NA |
| Ptprc | Chr1:140007727 | T to C | P06800 | Intronic | NA | NA | NA | NA | 0 | NA | NA | NA | NA | NA | NA |
| Rag1 | Chr2:101845708 | C to T | P15919 | R328Stop | NA | NA | NA | NA | −0.906 | NA | NA | NA | NA | NA | NA |
| Jak3 | Chr8:71680943 | T to C | Q62137 | L398P | Prob. Dam. | 1 | Not Tol. | 0.00 | −3.3 | Medium | 2.545 | −5.78447 | 0.94183 | Deleterious | 0.635 |
| Jak3 | Chr8:71685302 | G to T | Q62137 | G825V | Prob. Dam. | 1 | Not Tol. | 0.00 | 3.08 | High | 4.145 | −6.22242 | 0.96167 | Deleterious | 0.717 |
| Ptpn6 | Chr6:124722095 | C to T | P29351 | T462M | Prob. Dam. | 1 | Not Tol. | 0.03 | −4.72 | High | 3.61 | −4.82869 | 0.86161 | Deleterious | 0.689 |
| Ptprc | Chr1:138099437 | T to C | P06800 | F526S | Prob. Dam. | 1 | Not Tol. | 0.01 | 0.292 | Medium | 2.095 | * | * | Deleterious | 0.607 |
| Tnfaip3 | Chr10:19005539 | T to A | Q60769 | I325N | Prob. Dam. | 1 | Not Tol. | 0.00 | −0.294 | Low | 1.04 | −3.71158 | 0.67075 | Deleterious | 0.556 |
| Rasgrp1 | Chr2:117287984 | A to G | Q9Z1S3 | R519G | Prob. Dam. | 0.991 | Not Tol. | 0.01 | 1.23 | Low | 1.935 | * | * | Deleterious | 0.597 |
| Satb1 | Chr17:51782585 | T to A | Q60611 | F393L | Prob. Dam. | 0.984 | Not Tol. | 0.00 | 3.63 | Low | 1.875 | −2.081 | 0.28516 | Deleterious | 0.594 |
| Lig4 | Chr7:13311208 | A to G | Q8BTF7 | Y288C | Prob. Dam. | 0.975 | Not Tol. | 0.04 | 3.83 | Low | 1.805 | −5.10454 | 0.89134 | Deleterious | 0.592 |
| Ptpn6 | Chr6:124732942 | C to T | P29351 | V2M | Poss. Dam. | 0.913 | Not Tol. | 0.00 | 2.91 | Neutral | 0.68 | * | * | Deleterious | 0.517 |
| Ptprc | Chr1:138101016 | T to C | P06800 | C463R | Benign | 0.56 | Tolerated | 0.11 | 1.59 | Low | 1.095 | * | * | Deleterious | 0.469 |
| Bcl2 | Chr1:106711797 | T to C | P10417 | S24P | Benign | 0.203 | Not Tol. | 0.00 | −0.17 | Low | 1.355 | −2.05643 | 0.28018 | Neutral | 0.411 |
NA, not applicable; Not Tol., not tolerated; Pdel., Pdeleterious; Poss. Dam., possibly damaging; Prob. Dam., probably damaging.
*
Position not aligned in the HMM.