Table 3. Linked variants.
Mutant Allele | #Nonsyn Genome | # Linked Chr | Location; bp Change | Gene | AA Change | LOD Score |
---|---|---|---|---|---|---|
Stature | ||||||
dmh14 | 29 | 3 | 3:23104458 G/A X | col1a1a | G1144E | 5.41 |
dmh13 | 26 | 2 | 3:23104092 G/A | col1a1a | G1093R | 3.61 |
dmh29 | 303 | 17 | 12:3070126 C/T | col1a1b | G1123D | 7.22 |
dmh15 | 17/12 | 1/2 | 19:41411721 G/A | col1a2 | G882D | 12 |
dmh27 | 27 | 3 | 8:21181959 G/T | col2a1a | G1174X | 3.91 |
dmh28 | 22 | 6 | 8:21181691 G/A X | col2a1aa | G1141D | 4.8 |
dmh21b | 66 | 8 | 8:21303580 G/A X | itpr3 | G2135D | 8.4 |
dmh30b | 10 | 5 | 8:21303580 G/A | itpr3 | G2135D | 1.5 |
dmh16 | 17 | 4 | 12:13080359 T/G X | cmn | M10R | 5.11 |
dmh31 | 9 | 5 | 5:31610564 G/A X | myhz2 | M543I | 5.97 |
dmh4 | 10 | 3 | 24:39229412 T/A X | CU929145.1 | I156L | 3.61 |
Fin | ||||||
dmh35 | 41 | 12 | 20:40820378 C/T X | cx43 | G138D | 3.01 |
dmh20 | 38 | 12 | 20:28348113 C/A X | dll4 | H190N | 8.4 |
dmh32 | 28 | 3 | 20:28350489 T/A X | dll4 | C263X | 7.22 |
dmh33 | 16 | 5 | 20:28352804 C/A X | dll4 | Y449X | 6.02 |
dmh34 | 32 | 17 | 20:28350403 A/T X | dll4 | R235X | 1.5 |
Dermal skeleton | ||||||
dmh3c | — | — | 9:56069237 G/T | edar | D409Y | 14.8 |
dmh19 | 23 | 1 | 8:17607022 A/G X | prkcz | S113P | 5.7 |
dmh18 | 49 | N/A | ||||
dmh22 | 66 | N/A | ||||
Pigment | ||||||
dmh8 | 23 | 3 | 1:46725420 G/T X | cx41.8 | N63K | 4.82 |
dmh7 | 35 | 5 | 1:46725024 T/A X | cx41.8 | R195S | 4.52 |
dmh9 | 25 | 6 | 15:40379722 G/A | kcnj13 | T128M | 3.01 |
dmh1d | 102 | 6 | 15:40373740 A/T | kcnj13 | Y325X | N/D |
dmh11 | 12 | N/A |
Mutation in col2a1a was filtered out as a candidate due to a low Phred-scaled quality score of 5.46 of the alternative allele.
Mutants are most likely clonal; N/A, for these mutants, no linkage was found at time of publication; N/D, not determined; X, linkage to predicted chromosomes was confirmed.
Identified by candidate gene approach.
Identified by whole exome sequencing of a homozygous mutant pool.