Incidental Mutation 'IGL01615:Ndufb3'
ID 92369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufb3
Ensembl Gene ENSMUSG00000026032
Gene Name NADH:ubiquinone oxidoreductase subunit B3
Synonyms 2700033I16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # IGL01615
Quality Score
Status
Chromosome 1
Chromosomal Location 58625556-58635123 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 58634912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 88 (L88*)
Ref Sequence ENSEMBL: ENSMUSP00000027193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027193]
AlphaFold Q9CQZ6
Predicted Effect probably null
Transcript: ENSMUST00000027193
AA Change: L88*
SMART Domains Protein: ENSMUSP00000027193
Gene: ENSMUSG00000026032
AA Change: L88*

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
Pfam:NDUF_B12 48 104 1.3e-25 PFAM
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 an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,171,692 (GRCm39) T906A probably damaging Het
Akap13 A G 7: 75,347,141 (GRCm39) S1731G probably damaging Het
Apbb2 A G 5: 66,465,044 (GRCm39) V650A probably benign Het
Appl1 A G 14: 26,681,427 (GRCm39) probably benign Het
Avpr1b T G 1: 131,527,885 (GRCm39) V136G probably damaging Het
C6 T C 15: 4,811,378 (GRCm39) F409L probably benign Het
Ccdc121rt3 A G 5: 112,503,696 (GRCm39) S3P possibly damaging Het
Cdk20 A G 13: 64,584,124 (GRCm39) probably benign Het
Cenpf T C 1: 189,385,381 (GRCm39) K2300E possibly damaging Het
Cfap57 C T 4: 118,457,993 (GRCm39) R399Q probably damaging Het
Cimap3 G T 3: 105,904,523 (GRCm39) probably null Het
Cnnm1 A T 19: 43,460,375 (GRCm39) S706C probably benign Het
Cr1l T C 1: 194,812,189 (GRCm39) I45V possibly damaging Het
D130043K22Rik A T 13: 25,083,779 (GRCm39) R1081S probably damaging Het
Ddx60 A T 8: 62,416,774 (GRCm39) H573L probably null Het
Eif5b T C 1: 38,084,787 (GRCm39) L878S probably damaging Het
Ets1 T C 9: 32,644,235 (GRCm39) probably benign Het
Evi5 A G 5: 107,912,573 (GRCm39) L696P probably damaging Het
Fbh1 C A 2: 11,762,334 (GRCm39) E12* probably null Het
Gabpb1 C A 2: 126,495,520 (GRCm39) M77I possibly damaging Het
Glul T A 1: 153,782,222 (GRCm39) N152K probably benign Het
Gm45234 T C 6: 124,723,394 (GRCm39) Y613C probably damaging Het
Gm5611 A G 9: 16,941,647 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,808,953 (GRCm39) I225K probably damaging Het
Herc4 T C 10: 63,126,461 (GRCm39) probably benign Het
Iqsec3 C T 6: 121,387,580 (GRCm39) V720M probably damaging Het
Itgam A T 7: 127,715,939 (GRCm39) H1104L possibly damaging Het
Itgb3 T A 11: 104,534,791 (GRCm39) D549E probably damaging Het
Kctd7 A T 5: 130,176,976 (GRCm39) M76L probably damaging Het
Kdm3b T G 18: 34,962,284 (GRCm39) N1523K probably damaging Het
Map3k12 T A 15: 102,412,186 (GRCm39) E318D probably damaging Het
Mc1r T C 8: 124,134,789 (GRCm39) Y181H probably damaging Het
Mex3c G A 18: 73,706,703 (GRCm39) A197T unknown Het
Mvk A G 5: 114,584,353 (GRCm39) D71G probably benign Het
Or56a4 A G 7: 104,806,667 (GRCm39) V74A probably benign Het
Or5p55 A G 7: 107,567,144 (GRCm39) D180G probably damaging Het
Pramel17 T A 4: 101,694,201 (GRCm39) R227S possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Slc5a3 C T 16: 91,876,000 (GRCm39) Q686* probably null Het
Vmn2r75 T C 7: 85,797,681 (GRCm39) I711V probably benign Het
Vps13c T A 9: 67,863,063 (GRCm39) H3026Q probably benign Het
Zfp354c A G 11: 50,708,732 (GRCm39) S22P possibly damaging Het
Other mutations in Ndufb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Ndufb3 APN 1 58,634,958 (GRCm39) missense possibly damaging 0.95
IGL00563:Ndufb3 APN 1 58,634,958 (GRCm39) missense possibly damaging 0.95
R5014:Ndufb3 UTSW 1 58,630,401 (GRCm39) missense probably damaging 0.96
R5199:Ndufb3 UTSW 1 58,630,281 (GRCm39) unclassified probably benign
R7243:Ndufb3 UTSW 1 58,630,282 (GRCm39) missense unknown
R8900:Ndufb3 UTSW 1 58,634,824 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09