Incidental Mutation 'IGL01974:Ndufv3'
ID 181681
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufv3
Ensembl Gene ENSMUSG00000024038
Gene Name NADH:ubiquinone oxidoreductase core subunit V3
Synonyms 1500032D16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01974
Quality Score
Status
Chromosome 17
Chromosomal Location 31739089-31750300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31740583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 30 (V30A)
Ref Sequence ENSEMBL: ENSMUSP00000140032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046288] [ENSMUST00000064798] [ENSMUST00000167419] [ENSMUST00000171291] [ENSMUST00000191598]
AlphaFold Q8BK30
Predicted Effect probably benign
Transcript: ENSMUST00000046288
AA Change: V30A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049000
Gene: ENSMUSG00000024038
AA Change: V30A

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
AA Change: V30A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066303
Gene: ENSMUSG00000024038
AA Change: V30A

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167419
SMART Domains Protein: ENSMUSP00000127617
Gene: ENSMUSG00000024037

DomainStartEndE-ValueType
SCOP:d1e1aa_ 71 143 5e-4 SMART
Blast:WD40 74 134 2e-36 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000171291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189436
Predicted Effect probably benign
Transcript: ENSMUST00000191598
AA Change: V30A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140032
Gene: ENSMUSG00000024038
AA Change: V30A

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,381,762 (GRCm39) D1401G possibly damaging Het
Adamts2 G A 11: 50,667,001 (GRCm39) G433S probably damaging Het
Cacna2d2 A C 9: 107,394,621 (GRCm39) S598R probably benign Het
Cdkl3 A G 11: 51,902,064 (GRCm39) Q91R probably damaging Het
Celf2 T C 2: 6,608,842 (GRCm39) Y313C probably damaging Het
Clint1 C A 11: 45,799,862 (GRCm39) N558K probably benign Het
Dcbld1 A G 10: 52,180,777 (GRCm39) H147R probably benign Het
Ednrb A C 14: 104,058,254 (GRCm39) Y350D probably damaging Het
Elp2 C T 18: 24,759,260 (GRCm39) P539L probably damaging Het
Fam217b G A 2: 178,063,020 (GRCm39) R328Q probably damaging Het
Gm9991 G T 1: 90,603,197 (GRCm39) noncoding transcript Het
Herc4 T G 10: 63,135,020 (GRCm39) probably null Het
Hus1 T C 11: 8,950,088 (GRCm39) N211S possibly damaging Het
Immt A G 6: 71,849,842 (GRCm39) D454G probably damaging Het
Itga4 G A 2: 79,103,471 (GRCm39) probably benign Het
Kank1 A T 19: 25,387,596 (GRCm39) N423I possibly damaging Het
Kynu T A 2: 43,571,352 (GRCm39) probably benign Het
Mycbp2 A C 14: 103,380,647 (GRCm39) S3670A possibly damaging Het
Or8k17 G T 2: 86,066,304 (GRCm39) L292I probably benign Het
Per2 C T 1: 91,351,440 (GRCm39) R1022Q probably benign Het
Rad23a T C 8: 85,565,568 (GRCm39) E30G probably damaging Het
Ropn1l T A 15: 31,449,255 (GRCm39) Y91F probably benign Het
Sertad4 C A 1: 192,529,274 (GRCm39) E181* probably null Het
Styxl2 A T 1: 165,928,105 (GRCm39) C502* probably null Het
Tnfrsf1b G A 4: 144,942,421 (GRCm39) P454L probably damaging Het
Ttbk2 G A 2: 120,616,564 (GRCm39) R110W probably damaging Het
Usp17le G T 7: 104,417,642 (GRCm39) S500Y probably benign Het
Other mutations in Ndufv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Ndufv3 APN 17 31,746,460 (GRCm39) missense possibly damaging 0.92
IGL02616:Ndufv3 APN 17 31,746,643 (GRCm39) missense probably damaging 0.98
R1823:Ndufv3 UTSW 17 31,750,219 (GRCm39) missense probably damaging 0.96
R1824:Ndufv3 UTSW 17 31,750,219 (GRCm39) missense probably damaging 0.96
R2095:Ndufv3 UTSW 17 31,746,460 (GRCm39) missense possibly damaging 0.92
R4852:Ndufv3 UTSW 17 31,747,043 (GRCm39) missense probably benign
R5791:Ndufv3 UTSW 17 31,746,382 (GRCm39) missense probably benign 0.12
R5914:Ndufv3 UTSW 17 31,750,206 (GRCm39) nonsense probably null
R7081:Ndufv3 UTSW 17 31,746,407 (GRCm39) missense possibly damaging 0.80
R7570:Ndufv3 UTSW 17 31,746,596 (GRCm39) missense probably damaging 0.98
R8949:Ndufv3 UTSW 17 31,746,742 (GRCm39) missense possibly damaging 0.61
R9296:Ndufv3 UTSW 17 31,739,197 (GRCm39) missense probably benign
R9587:Ndufv3 UTSW 17 31,747,106 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07