Incidental Mutation 'IGL00095:Ndufa8'
ID1901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa8
Ensembl Gene ENSMUSG00000026895
Gene NameNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8
Synonyms0610033L03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00095
Quality Score
Status
Chromosome2
Chromosomal Location36036326-36049406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36044455 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 37 (D37G)
Ref Sequence ENSEMBL: ENSMUSP00000065352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070112]
Predicted Effect probably damaging
Transcript: ENSMUST00000070112
AA Change: D37G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065352
Gene: ENSMUSG00000026895
AA Change: D37G

DomainStartEndE-ValueType
low complexity region 5 29 N/A INTRINSIC
Pfam:CHCH 78 113 3.6e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,882,751 Y65N probably damaging Het
Catsperg2 C A 7: 29,698,058 C1042F possibly damaging Het
Cluh T C 11: 74,664,064 V776A probably benign Het
Crxos T A 7: 15,898,618 C116* probably null Het
Csmd1 A G 8: 16,009,297 probably benign Het
Cubn C A 2: 13,491,820 probably benign Het
Exoc2 A G 13: 30,820,626 I858T probably benign Het
Fam105a A G 15: 27,658,116 S273P possibly damaging Het
Frmpd1 C A 4: 45,279,456 T727K possibly damaging Het
Gm3139 T C 5: 94,537,804 L441P probably damaging Het
Hapln3 T C 7: 79,121,983 T53A probably damaging Het
Hnrnpul1 T A 7: 25,726,154 Q584L possibly damaging Het
Ikbkb A T 8: 22,706,111 F26I probably damaging Het
Il31ra A T 13: 112,547,478 I120N possibly damaging Het
Itih1 C T 14: 30,929,821 V855M probably benign Het
Krtap4-16 A G 11: 99,851,206 S123P possibly damaging Het
Large1 C T 8: 72,837,497 R547Q probably damaging Het
Madd A G 2: 91,175,766 probably benign Het
Mark1 A G 1: 184,898,603 V770A probably damaging Het
Mpeg1 T C 19: 12,462,710 F511L probably benign Het
Mrgpra9 A G 7: 47,235,091 V276A possibly damaging Het
Nav3 T C 10: 109,841,733 T666A probably damaging Het
Nlrx1 A G 9: 44,253,279 L956P probably damaging Het
Nr5a1 T C 2: 38,708,341 E148G probably benign Het
Olfr310 T C 7: 86,269,669 N40S probably damaging Het
Olfr509 A T 7: 108,645,836 F247I possibly damaging Het
Patj A C 4: 98,535,562 Q1184P possibly damaging Het
Phf20l1 A G 15: 66,629,035 T619A probably benign Het
Pla2g6 T C 15: 79,289,241 T643A probably damaging Het
Radil A G 5: 142,497,922 S510P probably damaging Het
Spock1 A G 13: 57,587,739 probably benign Het
Stag3 C T 5: 138,299,138 T577M probably damaging Het
Tap2 C T 17: 34,215,378 R613C probably benign Het
Tnn A G 1: 160,125,451 V673A possibly damaging Het
Trrap T C 5: 144,779,974 probably benign Het
Vmn2r28 T C 7: 5,488,069 D393G probably benign Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Zc3h12d T C 10: 7,862,467 V179A probably damaging Het
Other mutations in Ndufa8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02603:Ndufa8 APN 2 36044458 missense probably damaging 1.00
R0322:Ndufa8 UTSW 2 36036622 missense probably benign 0.11
R2161:Ndufa8 UTSW 2 36036515 missense probably damaging 1.00
R2287:Ndufa8 UTSW 2 36036542 missense probably benign 0.36
R3001:Ndufa8 UTSW 2 36036559 missense possibly damaging 0.83
R3002:Ndufa8 UTSW 2 36036559 missense possibly damaging 0.83
R6186:Ndufa8 UTSW 2 36039740 missense probably benign 0.16
R7068:Ndufa8 UTSW 2 36044435 missense possibly damaging 0.95
Posted On2011-07-12