Incidental Mutation 'IGL01571:Ndufaf7'
ID 93290
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufaf7
Ensembl Gene ENSMUSG00000024082
Gene Name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 7
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01571
Quality Score
Status
Chromosome 17
Chromosomal Location 78937135-78948052 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78943852 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 229 (R229G)
Ref Sequence ENSEMBL: ENSMUSP00000024887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024887]
AlphaFold Q9CWG8
Predicted Effect probably damaging
Transcript: ENSMUST00000024887
AA Change: R229G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
AA Change: R229G

DomainStartEndE-ValueType
Pfam:Methyltransf_28 95 349 5.5e-75 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Embryos homozygous for a gene trap mutation die prenatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in Ndufaf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ndufaf7 APN 17 78947091 unclassified probably benign
IGL01613:Ndufaf7 APN 17 78937502 missense probably benign 0.01
IGL01763:Ndufaf7 APN 17 78946342 missense possibly damaging 0.76
IGL03149:Ndufaf7 APN 17 78945010 missense possibly damaging 0.86
R0540:Ndufaf7 UTSW 17 78946456 missense probably benign 0.02
R1728:Ndufaf7 UTSW 17 78937629 missense probably damaging 0.99
R1729:Ndufaf7 UTSW 17 78937629 missense probably damaging 0.99
R1784:Ndufaf7 UTSW 17 78937629 missense probably damaging 0.99
R1907:Ndufaf7 UTSW 17 78942117 missense possibly damaging 0.95
R2119:Ndufaf7 UTSW 17 78945013 missense possibly damaging 0.76
R2369:Ndufaf7 UTSW 17 78945032 missense probably damaging 0.99
R4167:Ndufaf7 UTSW 17 78944986 missense probably benign 0.00
R4555:Ndufaf7 UTSW 17 78942087 missense probably benign 0.05
R4556:Ndufaf7 UTSW 17 78942087 missense probably benign 0.05
R5236:Ndufaf7 UTSW 17 78939631 missense probably benign 0.23
R5405:Ndufaf7 UTSW 17 78938615 missense probably damaging 1.00
R5514:Ndufaf7 UTSW 17 78937622 missense probably damaging 1.00
R6377:Ndufaf7 UTSW 17 78943310 missense probably null 0.99
R7440:Ndufaf7 UTSW 17 78942117 missense probably damaging 0.98
R8205:Ndufaf7 UTSW 17 78947032 missense probably benign
R8280:Ndufaf7 UTSW 17 78943846 missense possibly damaging 0.95
R8931:Ndufaf7 UTSW 17 78937521 missense possibly damaging 0.55
R9042:Ndufaf7 UTSW 17 78938539 critical splice acceptor site probably null
Posted On 2013-12-09