Incidental Mutation 'IGL01613:Ndufaf7'
ID 92277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufaf7
Ensembl Gene ENSMUSG00000024082
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 7
Synonyms 2410091C18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01613
Quality Score
Chromosome 17
Chromosomal Location 79244565-79255481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79244931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 17 (I17V)
Ref Sequence ENSEMBL: ENSMUSP00000024887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000024887]
AlphaFold Q9CWG8
Predicted Effect probably benign
Transcript: ENSMUST00000024885
SMART Domains Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081

low complexity region 23 36 N/A INTRINSIC
coiled coil region 113 143 N/A INTRINSIC
Pfam:CBF 523 732 5.7e-58 PFAM
low complexity region 834 851 N/A INTRINSIC
low complexity region 881 904 N/A INTRINSIC
low complexity region 957 969 N/A INTRINSIC
low complexity region 1028 1042 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000024887
AA Change: I17V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
AA Change: I17V

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Ano10 A T 9: 122,088,606 (GRCm39) L347M possibly damaging Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Bpnt1 T C 1: 185,086,191 (GRCm39) V182A possibly damaging Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Cela3b T C 4: 137,152,382 (GRCm39) D65G possibly damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Elovl1 T C 4: 118,288,467 (GRCm39) V108A probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Esco2 T G 14: 66,064,044 (GRCm39) H380P possibly damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Golga1 A G 2: 38,910,138 (GRCm39) M603T probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Or8k1 T G 2: 86,047,505 (GRCm39) D183A probably damaging Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 (GRCm39) F108L possibly damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Wdr12 T C 1: 60,119,718 (GRCm39) H385R probably damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V probably benign Het
Other mutations in Ndufaf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ndufaf7 APN 17 79,254,520 (GRCm39) unclassified probably benign
IGL01571:Ndufaf7 APN 17 79,251,281 (GRCm39) missense probably damaging 0.96
IGL01763:Ndufaf7 APN 17 79,253,771 (GRCm39) missense possibly damaging 0.76
IGL03149:Ndufaf7 APN 17 79,252,439 (GRCm39) missense possibly damaging 0.86
R0540:Ndufaf7 UTSW 17 79,253,885 (GRCm39) missense probably benign 0.02
R1728:Ndufaf7 UTSW 17 79,245,058 (GRCm39) missense probably damaging 0.99
R1729:Ndufaf7 UTSW 17 79,245,058 (GRCm39) missense probably damaging 0.99
R1784:Ndufaf7 UTSW 17 79,245,058 (GRCm39) missense probably damaging 0.99
R1907:Ndufaf7 UTSW 17 79,249,546 (GRCm39) missense possibly damaging 0.95
R2119:Ndufaf7 UTSW 17 79,252,442 (GRCm39) missense possibly damaging 0.76
R2369:Ndufaf7 UTSW 17 79,252,461 (GRCm39) missense probably damaging 0.99
R4167:Ndufaf7 UTSW 17 79,252,415 (GRCm39) missense probably benign 0.00
R4555:Ndufaf7 UTSW 17 79,249,516 (GRCm39) missense probably benign 0.05
R4556:Ndufaf7 UTSW 17 79,249,516 (GRCm39) missense probably benign 0.05
R5236:Ndufaf7 UTSW 17 79,247,060 (GRCm39) missense probably benign 0.23
R5405:Ndufaf7 UTSW 17 79,246,044 (GRCm39) missense probably damaging 1.00
R5514:Ndufaf7 UTSW 17 79,245,051 (GRCm39) missense probably damaging 1.00
R6377:Ndufaf7 UTSW 17 79,250,739 (GRCm39) missense probably null 0.99
R7440:Ndufaf7 UTSW 17 79,249,546 (GRCm39) missense probably damaging 0.98
R8205:Ndufaf7 UTSW 17 79,254,461 (GRCm39) missense probably benign
R8280:Ndufaf7 UTSW 17 79,251,275 (GRCm39) missense possibly damaging 0.95
R8931:Ndufaf7 UTSW 17 79,244,950 (GRCm39) missense possibly damaging 0.55
R9042:Ndufaf7 UTSW 17 79,245,968 (GRCm39) critical splice acceptor site probably null
R9463:Ndufaf7 UTSW 17 79,253,900 (GRCm39) critical splice donor site probably null
R9573:Ndufaf7 UTSW 17 79,246,036 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09