Incidental Mutation 'IGL01974:Ndufv3'
ID181681
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 #IGL01974
Quality Score
Status
Chromosome17
Chromosomal Location31520115-31531326 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31521609 bp
ZygosityHeterozygous
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]
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: 32,659,805 D1401G possibly damaging Het
Adamts2 G A 11: 50,776,174 G433S probably damaging Het
Cacna2d2 A C 9: 107,517,422 S598R probably benign Het
Cdkl3 A G 11: 52,011,237 Q91R probably damaging Het
Celf2 T C 2: 6,604,031 Y313C probably damaging Het
Clint1 C A 11: 45,909,035 N558K probably benign Het
Dcbld1 A G 10: 52,304,681 H147R probably benign Het
Dusp27 A T 1: 166,100,536 C502* probably null Het
Ednrb A C 14: 103,820,818 Y350D probably damaging Het
Elp2 C T 18: 24,626,203 P539L probably damaging Het
Fam217b G A 2: 178,421,227 R328Q probably damaging Het
Gm9991 G T 1: 90,675,475 noncoding transcript Het
Herc4 T G 10: 63,299,241 probably null Het
Hus1 T C 11: 9,000,088 N211S possibly damaging Het
Immt A G 6: 71,872,858 D454G probably damaging Het
Itga4 G A 2: 79,273,127 probably benign Het
Kank1 A T 19: 25,410,232 N423I possibly damaging Het
Kynu T A 2: 43,681,340 probably benign Het
Mycbp2 A C 14: 103,143,211 S3670A possibly damaging Het
Olfr1048 G T 2: 86,235,960 L292I probably benign Het
Per2 C T 1: 91,423,718 R1022Q probably benign Het
Rad23a T C 8: 84,838,939 E30G probably damaging Het
Ropn1l T A 15: 31,449,109 Y91F probably benign Het
Sertad4 C A 1: 192,846,966 E181* probably null Het
Tnfrsf1b G A 4: 145,215,851 P454L probably damaging Het
Ttbk2 G A 2: 120,786,083 R110W probably damaging Het
Usp17le G T 7: 104,768,435 S500Y probably benign Het
Other mutations in Ndufv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Ndufv3 APN 17 31527486 missense possibly damaging 0.92
IGL02616:Ndufv3 APN 17 31527669 missense probably damaging 0.98
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 On2014-05-07