Incidental Mutation 'IGL00594:Ndufaf6'
ID12316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufaf6
Ensembl Gene ENSMUSG00000050323
Gene NameNADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Synonyms2310030N02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.326) question?
Stock #IGL00594
Quality Score
Status
Chromosome4
Chromosomal Location11051045-11076205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11062127 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 168 (Y168C)
Ref Sequence ENSEMBL: ENSMUSP00000062039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058183]
Predicted Effect probably damaging
Transcript: ENSMUST00000058183
AA Change: Y168C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062039
Gene: ENSMUSG00000050323
AA Change: Y168C

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in Ndufaf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Ndufaf6 APN 4 11070251 missense probably benign 0.00
IGL02524:Ndufaf6 APN 4 11059091 missense probably benign 0.10
PIT4366001:Ndufaf6 UTSW 4 11073215 missense probably benign 0.00
R0605:Ndufaf6 UTSW 4 11051224 missense probably damaging 0.99
R0855:Ndufaf6 UTSW 4 11051169 missense probably damaging 1.00
R1674:Ndufaf6 UTSW 4 11070264 missense probably benign 0.04
R1857:Ndufaf6 UTSW 4 11053474 missense probably benign 0.00
R1858:Ndufaf6 UTSW 4 11053474 missense probably benign 0.00
R1859:Ndufaf6 UTSW 4 11053474 missense probably benign 0.00
R2174:Ndufaf6 UTSW 4 11070228 missense probably benign 0.00
R4651:Ndufaf6 UTSW 4 11062070 missense probably damaging 1.00
R4870:Ndufaf6 UTSW 4 11060917 missense probably benign 0.01
R5131:Ndufaf6 UTSW 4 11060931 missense probably damaging 0.99
R5929:Ndufaf6 UTSW 4 11051150 missense probably benign 0.00
Posted On2012-12-06