Incidental Mutation 'IGL00563:Ndufb3'
ID277775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufb3
Ensembl Gene ENSMUSG00000026032
Gene NameNADH dehydrogenase (ubiquinone) 1 beta subcomplex 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #IGL00563
Quality Score
Status
Chromosome1
Chromosomal Location58586384-58595964 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58595799 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 103 (H103Q)
Ref Sequence ENSEMBL: ENSMUSP00000027193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027193]
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: 24,997,621 probably benign Het
Atp13a4 T C 16: 29,403,778 probably benign Het
AU016765 C A 17: 64,519,882 noncoding transcript Het
Clstn2 A G 9: 97,582,452 probably benign Het
Crip1 T A 12: 113,153,612 probably null Het
Dnah6 T C 6: 73,195,620 N285S possibly damaging Het
Fktn A T 4: 53,747,007 probably null Het
Fndc3a C A 14: 72,559,357 probably benign Het
Focad T A 4: 88,348,809 M1019K unknown Het
Fuca2 A T 10: 13,505,907 D188V probably damaging Het
Gzmk C T 13: 113,173,124 V92I probably benign Het
Mprip C T 11: 59,752,617 R520W probably damaging Het
Mrpl19 A G 6: 81,965,872 V19A probably benign Het
Pkd1l3 T C 8: 109,656,147 V1675A possibly damaging Het
Saxo1 C T 4: 86,445,572 E225K probably damaging Het
Sbno1 A G 5: 124,402,205 S383P probably damaging Het
Slc22a29 T A 19: 8,161,629 T490S probably benign Het
Smc6 T A 12: 11,301,531 S854T probably benign Het
Smim23 T C 11: 32,821,893 T58A probably benign Het
Tas2r134 T C 2: 51,628,088 I193T possibly damaging Het
Thsd7a G T 6: 12,379,659 probably null Het
Trav13n-4 T G 14: 53,363,966 V64G possibly damaging Het
Trmt10a G A 3: 138,147,416 E13K probably damaging Het
Txndc11 T C 16: 11,104,632 S239G probably damaging Het
Vmn2r96 T A 17: 18,583,815 N442K probably benign Het
Vps13a C T 19: 16,734,714 probably null Het
Wdr64 A G 1: 175,698,800 D5G probably benign Het
Other mutations in Ndufb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Ndufb3 APN 1 58595799 missense possibly damaging 0.95
IGL01615:Ndufb3 APN 1 58595753 nonsense probably null
R5014:Ndufb3 UTSW 1 58591242 missense probably damaging 0.96
R5199:Ndufb3 UTSW 1 58591122 unclassified probably benign
R7243:Ndufb3 UTSW 1 58591123 missense unknown
Posted On2015-04-16