Table 1. Alternate major and minor alleles found in mouse or human supported by at least two samples.
For each mitochondrial DNA position, the number of samples supporting the variant allele either as a major alternate allele (frequency >90%) or a minor alternate allele (frequency ≤ 10%) is shown for positions where at least 2 samples support a variant. Also shown is the consequence of the mutation (mutation type/impact) and the number of single cell RNASeq samples containing reads that support the variant out of all single cells with reads covering the indicated position.
| Mouse | |||||||
|---|---|---|---|---|---|---|---|
| MAJOR ALLELE | |||||||
| Position | Gene | Reference | Variant | #Samples | Mutation Type | Impact | RNASeq |
| 6543 | Mt-Co1 | G | A | 3 | missense | moderate | 0/297 (0%) |
| 9027 | Mt-Co3 | G | A | 39 | missense | moderate | 178/293 (61%) |
| 9461 | Mt-ND3 | T | C | 22 | Alternate START | high | No read coverage |
| MINOR ALLELE | |||||||
| Position | Gene | Reference | Variant | #Samples | Mutation Type | Impact | RNASeq |
| 1317 | Mt-rnr1 | T | A | 1 | Non-coding | Not annotated | 31/288(11%) |
| C | 1 | 21/288(7%) | |||||
| 2651 | Mt-rnr2 | T | C | 2 | Non-coding | Modifying | 6/31(19%) |
| 3079 | Mt-ND1 | G | A | 1 | Missense | Moderate | 12/221(5%) |
| T | 1 | 10/221(5%) | |||||
| 3739 | Mt-Ti | G | A | 2 | Non-coding | Modifying | 1/22(5%) |
| 3816 | Mt-Tq | T | C | 5 | Non-coding | Modifying | 2/7(29%) |
| 5613 | Mt-Co1 | C | T | 2 | Missense | Moderate | 2/149(14%) |
| 7612 | Mt-Co2 | T | C | 2 | Synonymouse | Low | 41/309(13%) |
| 9027 | Mt-Co3 | G | A | 20 | Missense | Moderate | 8/293(3%) |
| 9221 | Mt-Co3 | A | G | 2 | Synonymous | Low | 76/297(26%) |
| 9461 | Mt-Nd3 | C | T | 48 | Alternate START | High | No read coverage |
| 12913 | Mt-Nd5 | C | A | 2 | STOP gained | High | 3/108(3%) |
| 13776 | Mt-Nd6 | C | T | 2 | Missense | Moderate | 10/224(5%) |
| 15191 | Mt-Cyb | C | T | 2 | Synonymous | Low | 16/303(5%) |
| 15475 | D-loop | A | G | 2 | Non-coding | Not annotated | 1/34(3%) |
| 15706 | D-loop | C | A | 2 | Non-coding | Not annotated | 0/37 (0%) |
| 16029 | D-loop | A | G | 2 | Non-coding | Not annotated | 4/59(7%) |
| 16265 | D-loop | C | T | 17 | Non-coding | Not annotated | No read coverage |
| HUMAN | |||||||
| MAJOR ALLELE | |||||||
| 309 | D-loop | C | T | 5 | Non-coding | Unknown | 0/62(0%) |
| 13928 | Mt-Nd5 | C | G | 3 | Non-coding | Unknown | 5/187(3%) |
| MINOR ALLELE | |||||||
| 309 | D-loop | C | T | 15 | Non-coding | Unknown | 45/62(73%) |
| 310 | D-loop | C | T | 3 | Non-coding | Unknown | 53/54(98%) |
| 961 | Mt-rnr1 | T | C | 2 | Non-coding | Unknown | 66/224(29%) |
| 13928 | Mt-Nd5 | C | G | 3 | Missense | Moderate | 56/187(30%) |