Incidental Mutation 'IGL00562:Ndufb3'
ID 277753
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: 0.317) question?
Stock # IGL00562
Quality Score
Status
Chromosome 1
Chromosomal Location 58625556-58635123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58634958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 103 (H103Q)
Ref Sequence ENSEMBL: ENSMUSP00000027193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027193]
AlphaFold Q9CQZ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000027193
AA Change: H103Q

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027193
Gene: ENSMUSG00000026032
AA Change: H103Q

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 25,202,619 (GRCm39) probably benign Het
AU016765 C A 17: 64,826,877 (GRCm39) noncoding transcript Het
Chaf1b T C 16: 93,697,079 (GRCm39) probably benign Het
Clstn2 A G 9: 97,464,505 (GRCm39) probably benign Het
Crip1 T A 12: 113,117,232 (GRCm39) probably null Het
Cubn A G 2: 13,299,041 (GRCm39) S3211P probably benign Het
Dlx6 C T 6: 6,865,143 (GRCm39) R172W probably damaging Het
Fktn A T 4: 53,747,007 (GRCm39) probably null Het
Focad T A 4: 88,267,046 (GRCm39) M1019K unknown Het
Fuca2 A T 10: 13,381,651 (GRCm39) D188V probably damaging Het
Kcna3 A G 3: 106,944,046 (GRCm39) D103G probably damaging Het
Mrpl19 A G 6: 81,942,853 (GRCm39) V19A probably benign Het
Pkd1l3 T C 8: 110,382,779 (GRCm39) V1675A possibly damaging Het
Ptger4 A T 15: 5,272,614 (GRCm39) S2T probably benign Het
Saxo1 C T 4: 86,363,809 (GRCm39) E225K probably damaging Het
Sftpb G T 6: 72,286,845 (GRCm39) A228S probably benign Het
Slc22a29 T A 19: 8,138,993 (GRCm39) T490S probably benign Het
Slc29a1 T C 17: 45,900,918 (GRCm39) N50S probably damaging Het
Smc6 T A 12: 11,351,532 (GRCm39) S854T probably benign Het
Smim23 T C 11: 32,771,893 (GRCm39) T58A probably benign Het
Tas2r134 T C 2: 51,518,100 (GRCm39) I193T possibly damaging Het
Thsd7a G T 6: 12,379,658 (GRCm39) probably null Het
Trav13n-4 T G 14: 53,601,423 (GRCm39) V64G possibly damaging Het
Trmt10a G A 3: 137,853,177 (GRCm39) E13K probably damaging Het
Txndc11 T C 16: 10,922,496 (GRCm39) S239G probably damaging Het
Vmn2r96 T A 17: 18,804,077 (GRCm39) N442K probably benign Het
Vps13a C T 19: 16,712,078 (GRCm39) probably null Het
Other mutations in Ndufb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Ndufb3 APN 1 58,634,958 (GRCm39) missense possibly damaging 0.95
IGL01615:Ndufb3 APN 1 58,634,912 (GRCm39) nonsense probably null
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 2015-04-16