Incidental Mutation 'IGL01613:Ndufaf7'
ID92277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufaf7
Ensembl Gene ENSMUSG00000024082
Gene NameNADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 7
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01613
Quality Score
Status
Chromosome17
Chromosomal Location78937135-78948052 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78937502 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000024885
SMART Domains Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081

DomainStartEndE-ValueType
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

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,512,652 M446R possibly damaging Het
Abca16 A G 7: 120,541,277 N1599S probably benign Het
Ankib1 G A 5: 3,713,146 Q528* probably null Het
Ano10 A T 9: 122,259,540 L347M possibly damaging Het
Bag6 T C 17: 35,143,016 probably benign Het
Bpnt1 T C 1: 185,353,994 V182A possibly damaging Het
Capn13 G T 17: 73,331,058 T450N probably benign Het
Cbr3 A T 16: 93,683,443 E40V probably benign Het
Cdk10 T C 8: 123,228,387 I159T probably damaging Het
Cela3b T C 4: 137,425,071 D65G possibly damaging Het
Csf2rb T G 15: 78,335,302 probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dpp9 T C 17: 56,190,713 H687R probably benign Het
Elovl1 T C 4: 118,431,270 V108A probably benign Het
Emb T A 13: 117,272,078 N318K probably damaging Het
Ermp1 A G 19: 29,639,939 L36P probably damaging Het
Esco2 T G 14: 65,826,595 H380P possibly damaging Het
Gm5724 G T 6: 141,713,214 T552K possibly damaging Het
Gm9747 G A 1: 82,234,088 probably benign Het
Golga1 A G 2: 39,020,126 M603T probably benign Het
Hsph1 A G 5: 149,627,278 V411A probably benign Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Ints11 T C 4: 155,885,198 probably null Het
Jakmip1 G T 5: 37,100,768 A253S probably damaging Het
Met A G 6: 17,540,577 Y834C probably damaging Het
Mgl2 A G 11: 70,134,158 T2A probably benign Het
Myh2 G T 11: 67,197,344 V1929L probably benign Het
Myh8 T C 11: 67,301,710 S1472P probably benign Het
Myo1e T C 9: 70,341,273 probably benign Het
Olfr1046 T G 2: 86,217,161 D183A probably damaging Het
Olfr1256 T C 2: 89,835,808 T46A probably damaging Het
Olfr193 A T 16: 59,109,921 S230T probably damaging Het
Olfr804 A G 10: 129,705,623 I248M probably benign Het
Olfr830 T A 9: 18,875,321 probably benign Het
Olfr914 A G 9: 38,606,554 I30V probably null Het
Olfr992 C T 2: 85,400,171 D121N probably damaging Het
Ppef2 T C 5: 92,235,820 E477G probably benign Het
Scmh1 T A 4: 120,529,900 probably benign Het
Scn1a C A 2: 66,285,937 D1473Y probably damaging Het
Sdr42e1 C T 8: 117,662,937 V322I probably benign Het
Spta1 G A 1: 174,208,394 A1089T probably damaging Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 F108L possibly damaging Het
Ttn T C 2: 76,974,964 N177S probably benign Het
Tyk2 T C 9: 21,120,576 D401G probably damaging Het
Vav1 T C 17: 57,307,067 F650L possibly damaging Het
Wdr12 T C 1: 60,080,559 H385R probably damaging Het
Xab2 T C 8: 3,610,880 M745V probably benign Het
Other mutations in Ndufaf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ndufaf7 APN 17 78947091 unclassified probably benign
IGL01571:Ndufaf7 APN 17 78943852 missense probably damaging 0.96
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
Posted On2013-12-09