Incidental Mutation 'IGL02616:Ndufv3'
ID300666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufv3
Ensembl Gene ENSMUSG00000024038
Gene NameNADH dehydrogenase (ubiquinone) flavoprotein 3
Synonyms1500032D16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL02616
Quality Score
Status
Chromosome17
Chromosomal Location31520115-31531326 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 31527669 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 178 (V178M)
Ref Sequence ENSEMBL: ENSMUSP00000049000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046288] [ENSMUST00000064798] [ENSMUST00000191598]
Predicted Effect probably damaging
Transcript: ENSMUST00000046288
AA Change: V178M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049000
Gene: ENSMUSG00000024038
AA Change: V178M

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
low complexity region 80 88 N/A INTRINSIC
low complexity region 151 166 N/A INTRINSIC
Pfam:NDUFV3 427 461 1.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064798
SMART Domains Protein: ENSMUSP00000066303
Gene: ENSMUSG00000024038

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189436
Predicted Effect probably benign
Transcript: ENSMUST00000191598
SMART Domains Protein: ENSMUSP00000140032
Gene: ENSMUSG00000024038

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193280
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 is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,161,662 R190G probably benign Het
4931406B18Rik T C 7: 43,501,013 probably null Het
Adcy4 T C 14: 55,783,514 probably null Het
Ahnak C A 19: 9,005,627 P1425Q probably benign Het
Arih1 A G 9: 59,412,476 V285A probably benign Het
Atp13a1 T C 8: 69,805,313 V906A probably benign Het
Atp2a2 A T 5: 122,461,684 I548N probably benign Het
C2cd5 A T 6: 143,035,111 S643T probably benign Het
Calcoco1 T C 15: 102,715,850 D210G probably damaging Het
Cep128 A G 12: 91,296,258 I289T probably benign Het
Ces1c C T 8: 93,106,615 M407I probably benign Het
Cntln T G 4: 85,115,452 probably null Het
Cypt12 T A 3: 17,948,728 H88Q possibly damaging Het
Ddc T A 11: 11,880,645 probably benign Het
Dnajb12 T C 10: 59,892,863 probably null Het
Gata2 A G 6: 88,205,480 T477A possibly damaging Het
Gckr A G 5: 31,327,075 D619G probably benign Het
Gm5699 A T 1: 30,998,351 noncoding transcript Het
Gm8257 T A 14: 44,655,226 S106C probably damaging Het
Gpr15 A C 16: 58,718,204 L174R probably damaging Het
Hnrnph3 T A 10: 63,019,485 H7L possibly damaging Het
Ide A T 19: 37,298,056 I518N unknown Het
Igdcc4 G A 9: 65,133,078 G957D probably damaging Het
Igsf10 G A 3: 59,318,606 P2549S probably benign Het
Kcnj9 A G 1: 172,325,964 S198P probably damaging Het
Lclat1 T C 17: 73,169,533 I45T probably benign Het
Met T C 6: 17,553,347 L1044S probably damaging Het
Msh4 T C 3: 153,857,523 T739A probably benign Het
Ncam1 T C 9: 49,508,688 E776G probably benign Het
Nlgn1 T C 3: 25,434,245 Y613C probably damaging Het
Nmbr T C 10: 14,760,687 probably benign Het
Orc1 T A 4: 108,595,479 W184R probably benign Het
Pde6b T C 5: 108,431,541 S850P probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pnpt1 T C 11: 29,135,505 probably benign Het
Pomt2 T A 12: 87,124,862 H378L probably damaging Het
Sh3gl3 C T 7: 82,285,018 probably benign Het
Thsd7a A T 6: 12,408,985 N679K probably damaging Het
Tns2 T C 15: 102,111,415 M572T probably benign Het
Twf2 C T 9: 106,212,756 Q103* probably null Het
Uncx T C 5: 139,546,768 I196T possibly damaging Het
Urgcp A G 11: 5,717,400 S313P probably damaging Het
Vmn1r222 A T 13: 23,232,141 C301S possibly damaging Het
Vmn2r111 T A 17: 22,571,050 Q325L possibly damaging Het
Vps4a C T 8: 107,042,277 R236W probably damaging Het
Wdr19 T A 5: 65,223,581 H344Q probably damaging Het
Wiz A T 17: 32,359,469 D356E probably damaging Het
Zc3h10 T C 10: 128,544,882 E202G probably benign Het
Other mutations in Ndufv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Ndufv3 APN 17 31527486 missense possibly damaging 0.92
IGL01974:Ndufv3 APN 17 31521609 missense probably benign 0.00
R1823:Ndufv3 UTSW 17 31531245 missense probably damaging 0.96
R1824:Ndufv3 UTSW 17 31531245 missense probably damaging 0.96
R2095:Ndufv3 UTSW 17 31527486 missense possibly damaging 0.92
R4852:Ndufv3 UTSW 17 31528069 missense probably benign
R5791:Ndufv3 UTSW 17 31527408 missense probably benign 0.12
R5914:Ndufv3 UTSW 17 31531232 nonsense probably null
R7081:Ndufv3 UTSW 17 31527433 missense possibly damaging 0.80
R7570:Ndufv3 UTSW 17 31527622 missense probably damaging 0.98
Posted On2015-04-16