Incidental Mutation 'R5131:Ndufaf6'
ID 394992
Institutional Source Beutler Lab
Gene Symbol Ndufaf6
Ensembl Gene ENSMUSG00000050323
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 6
Synonyms 2310030N02Rik
MMRRC Submission 042719-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.385) question?
Stock # R5131 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 11051045-11076205 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 11060931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 215 (T215K)
Ref Sequence ENSEMBL: ENSMUSP00000062039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058183]
AlphaFold A2AIL4
Predicted Effect probably damaging
Transcript: ENSMUST00000058183
AA Change: T215K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062039
Gene: ENSMUSG00000050323
AA Change: T215K

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
Pfam:SQS_PSY 65 323 3.7e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154122
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C T 4: 40,163,797 (GRCm39) P17S probably benign Het
Arhgap35 A G 7: 16,245,112 (GRCm39) probably null Het
Brd3 A T 2: 27,343,427 (GRCm39) N480K probably benign Het
Ccnk T C 12: 108,168,890 (GRCm39) probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh1 T C 8: 107,390,430 (GRCm39) V590A possibly damaging Het
Cert1 A G 13: 96,751,343 (GRCm39) D331G probably damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Cmklr2 T A 1: 63,222,840 (GRCm39) S132C probably damaging Het
Cyp4a12a T A 4: 115,185,017 (GRCm39) D399E possibly damaging Het
Dnah11 A C 12: 117,918,486 (GRCm39) Y3482D probably damaging Het
Gtf3c3 A T 1: 54,458,657 (GRCm39) probably null Het
Gzmk G T 13: 113,310,482 (GRCm39) A73E probably benign Het
Hnrnpul1 A G 7: 25,426,219 (GRCm39) V444A probably benign Het
Lgr4 T C 2: 109,842,678 (GRCm39) S864P probably benign Het
Lrp2 A T 2: 69,260,686 (GRCm39) V4515E possibly damaging Het
Map3k19 A T 1: 127,751,427 (GRCm39) N641K possibly damaging Het
Mesp2 A G 7: 79,461,475 (GRCm39) T267A possibly damaging Het
Mipep T C 14: 61,140,823 (GRCm39) L682P probably damaging Het
Nalcn G T 14: 123,753,182 (GRCm39) T268K probably damaging Het
Ncam2 T C 16: 81,234,550 (GRCm39) V135A probably benign Het
Nr1h4 T C 10: 89,319,317 (GRCm39) D183G probably damaging Het
Pate9 C T 9: 36,446,242 (GRCm39) A57T possibly damaging Het
Pax2 G T 19: 44,749,394 (GRCm39) V41L probably damaging Het
Pde4dip T A 3: 97,616,830 (GRCm39) N1804I probably damaging Het
Phtf2 A T 5: 20,979,050 (GRCm39) V526E probably damaging Het
Ppp1ca G A 19: 4,244,895 (GRCm39) C291Y probably damaging Het
Prag1 G T 8: 36,607,123 (GRCm39) G955C probably damaging Het
Psap T A 10: 60,135,736 (GRCm39) V394E possibly damaging Het
Rap1b C T 10: 117,660,516 (GRCm39) V14I probably damaging Het
Rnf181 G A 6: 72,337,811 (GRCm39) probably null Het
Rsbn1l G A 5: 21,101,243 (GRCm39) R766C possibly damaging Het
Rusc2 C T 4: 43,414,948 (GRCm39) P85S probably benign Het
Rxfp1 T C 3: 79,559,471 (GRCm39) probably null Het
Serpinb6a T A 13: 34,102,855 (GRCm39) M202L probably benign Het
Snd1 T C 6: 28,885,049 (GRCm39) F800S probably damaging Het
Tbc1d2b G A 9: 90,091,812 (GRCm39) T830I probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Tmtc3 T C 10: 100,284,841 (GRCm39) D598G probably damaging Het
Ube3b A G 5: 114,545,607 (GRCm39) D622G probably damaging Het
Zbtb43 A T 2: 33,344,778 (GRCm39) M112K probably damaging Het
Other mutations in Ndufaf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Ndufaf6 APN 4 11,062,127 (GRCm39) missense probably damaging 1.00
IGL01325:Ndufaf6 APN 4 11,070,251 (GRCm39) missense probably benign 0.00
IGL02524:Ndufaf6 APN 4 11,059,091 (GRCm39) missense probably benign 0.10
PIT4366001:Ndufaf6 UTSW 4 11,073,215 (GRCm39) missense probably benign 0.00
R0605:Ndufaf6 UTSW 4 11,051,224 (GRCm39) missense probably damaging 0.99
R0855:Ndufaf6 UTSW 4 11,051,169 (GRCm39) missense probably damaging 1.00
R1674:Ndufaf6 UTSW 4 11,070,264 (GRCm39) missense probably benign 0.04
R1857:Ndufaf6 UTSW 4 11,053,474 (GRCm39) missense probably benign 0.00
R1858:Ndufaf6 UTSW 4 11,053,474 (GRCm39) missense probably benign 0.00
R1859:Ndufaf6 UTSW 4 11,053,474 (GRCm39) missense probably benign 0.00
R2174:Ndufaf6 UTSW 4 11,070,228 (GRCm39) missense probably benign 0.00
R4651:Ndufaf6 UTSW 4 11,062,070 (GRCm39) missense probably damaging 1.00
R4870:Ndufaf6 UTSW 4 11,060,917 (GRCm39) missense probably benign 0.01
R5929:Ndufaf6 UTSW 4 11,051,150 (GRCm39) missense probably benign 0.00
R8253:Ndufaf6 UTSW 4 11,059,086 (GRCm39) missense probably damaging 1.00
R9170:Ndufaf6 UTSW 4 11,070,301 (GRCm39) missense probably benign 0.33
R9224:Ndufaf6 UTSW 4 11,062,089 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGCATACCTTCCAAACAGCG -3'
(R):5'- AGAGTCTTCCGATGTCTGCCAG -3'

Sequencing Primer
(F):5'- GCATACCTTCCAAACAGCGATATAAC -3'
(R):5'- GGAAGATCCCTGACATCCAGTTTC -3'
Posted On 2016-06-21