Incidental Mutation 'R4245:Ndufs6'
ID 320393
Institutional Source Beutler Lab
Gene Symbol Ndufs6
Ensembl Gene ENSMUSG00000021606
Gene Name NADH:ubiquinone oxidoreductase core subunit S6
Synonyms IP13
MMRRC Submission 041061-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R4245 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73467995-73476601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73468512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 62 (D62E)
Ref Sequence ENSEMBL: ENSMUSP00000152073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022097] [ENSMUST00000147407] [ENSMUST00000222930] [ENSMUST00000223293]
AlphaFold P52503
Predicted Effect probably benign
Transcript: ENSMUST00000022097
AA Change: D62E

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022097
Gene: ENSMUSG00000021606
AA Change: D62E

DomainStartEndE-ValueType
Pfam:zf-CHCC 73 112 1.7e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000085163
SMART Domains Protein: ENSMUSP00000136886
Gene: ENSMUSG00000066407

DomainStartEndE-ValueType
Pfam:Ribosomal_S28e 1 69 2.9e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147407
Predicted Effect possibly damaging
Transcript: ENSMUST00000222930
AA Change: D62E

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000223293
AA Change: D62E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.0743 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (47/48)
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorph allele display premature death asscoiated with rapid weight loss and cardiac failure. These mice have enlarged hearts with impaired function and mitochondrial abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,733,203 (GRCm39) noncoding transcript Het
Acacb A T 5: 114,368,845 (GRCm39) T1688S probably damaging Het
Actr1b T C 1: 36,740,911 (GRCm39) Y171C possibly damaging Het
C8a A G 4: 104,733,543 (GRCm39) V4A probably benign Het
Ccdc171 A G 4: 83,473,045 (GRCm39) D158G probably damaging Het
Ccdc184 T A 15: 98,066,750 (GRCm39) probably null Het
Cdc23 T C 18: 34,770,100 (GRCm39) probably benign Het
Dnah5 A G 15: 28,219,335 (GRCm39) N51S probably benign Het
Dock10 T A 1: 80,544,472 (GRCm39) E905V probably benign Het
Eepd1 T C 9: 25,505,920 (GRCm39) I460T probably benign Het
Fen1 T A 19: 10,177,731 (GRCm39) I238F probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm5493 A G 17: 22,966,199 (GRCm39) E28G probably benign Het
Jakmip2 A G 18: 43,710,501 (GRCm39) V234A probably benign Het
Map3k6 T C 4: 132,979,258 (GRCm39) Y1204H possibly damaging Het
Mpeg1 C A 19: 12,440,272 (GRCm39) Q577K probably damaging Het
Mthfd1 T C 12: 76,348,047 (GRCm39) S564P probably damaging Het
Mtmr11 T A 3: 96,075,393 (GRCm39) C358S probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Myo18b G A 5: 112,840,261 (GRCm39) H2511Y possibly damaging Het
Or5af2 T C 11: 58,708,604 (GRCm39) Y257H probably damaging Het
Or7e178 T C 9: 20,225,629 (GRCm39) I196V possibly damaging Het
Pcdhga1 T A 18: 37,796,605 (GRCm39) D536E probably damaging Het
Phactr3 G A 2: 177,924,982 (GRCm39) probably null Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptk2 C T 15: 73,103,825 (GRCm39) G749D probably benign Het
Rab3il1 A T 19: 10,007,518 (GRCm39) D222V probably damaging Het
Radil T C 5: 142,529,546 (GRCm39) D50G probably damaging Het
Rfx7 A G 9: 72,499,051 (GRCm39) T72A possibly damaging Het
Scn7a T C 2: 66,572,345 (GRCm39) I209V probably benign Het
Sf3a1 C T 11: 4,117,774 (GRCm39) R179C probably damaging Het
Spata31e2 T C 1: 26,721,161 (GRCm39) N1340D probably benign Het
Styxl2 T C 1: 165,928,685 (GRCm39) E309G probably damaging Het
Tg T C 15: 66,568,318 (GRCm39) V1335A possibly damaging Het
Thnsl1 A G 2: 21,217,059 (GRCm39) E271G probably benign Het
Vill T A 9: 118,900,359 (GRCm39) probably benign Het
Vmn2r79 A G 7: 86,651,624 (GRCm39) D341G possibly damaging Het
Wdr59 T C 8: 112,216,996 (GRCm39) N272D possibly damaging Het
Zar1 T C 5: 72,737,736 (GRCm39) E121G possibly damaging Het
Zfp985 A G 4: 147,667,396 (GRCm39) K88R probably damaging Het
Zscan29 C T 2: 120,995,275 (GRCm39) probably null Het
Other mutations in Ndufs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5807:Ndufs6 UTSW 13 73,475,553 (GRCm39) missense probably damaging 1.00
R6166:Ndufs6 UTSW 13 73,466,060 (GRCm39) unclassified probably benign
R6358:Ndufs6 UTSW 13 73,468,438 (GRCm39) missense probably damaging 1.00
R6520:Ndufs6 UTSW 13 73,476,471 (GRCm39) missense probably damaging 1.00
R7154:Ndufs6 UTSW 13 73,468,411 (GRCm39) missense possibly damaging 0.46
Z1088:Ndufs6 UTSW 13 73,476,555 (GRCm39) missense probably benign
Z1176:Ndufs6 UTSW 13 73,476,555 (GRCm39) missense probably benign
Z1177:Ndufs6 UTSW 13 73,476,555 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCTATGACTGTTAACTGGGACAC -3'
(R):5'- GGGTAATATTCCACTGCAGGC -3'

Sequencing Primer
(F):5'- GACACCCAGAGAGCCAGTG -3'
(R):5'- GTAATATTCCACTGCAGGCACACG -3'
Posted On 2015-06-12