Incidental Mutation 'IGL00987:Atp5mc3'
ID 27044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5mc3
Ensembl Gene ENSMUSG00000018770
Gene Name ATP synthase membrane subunit c locus 3
Synonyms Atp5g3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # IGL00987
Quality Score
Status
Chromosome 2
Chromosomal Location 73738791-73741670 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 73740270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 19 (R19*)
Ref Sequence ENSEMBL: ENSMUSP00000107627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018914] [ENSMUST00000111996]
AlphaFold P56384
Predicted Effect probably null
Transcript: ENSMUST00000018914
AA Change: R19*
SMART Domains Protein: ENSMUSP00000018914
Gene: ENSMUSG00000018770
AA Change: R19*

DomainStartEndE-ValueType
Pfam:ATP-synt_C 73 138 7.9e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111996
AA Change: R19*
SMART Domains Protein: ENSMUSP00000107627
Gene: ENSMUSG00000018770
AA Change: R19*

DomainStartEndE-ValueType
Pfam:ATP-synt_C 72 140 2.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155474
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a subunit of mitochondrial membrane ATP synthase, the enzyme that catalyzes ATP synthesis during oxidative phosphorylation. This gene encodes subunit 9, which is present in multiple copies in the transmembrane part of the ATP synthase complex. Phenotype and gene expression profiles suggest correlations between this gene and alcoholism- and obesity-related phenotypes. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 T C X: 154,078,177 (GRCm39) I241T probably benign Het
Celf4 T C 18: 25,620,007 (GRCm39) D420G probably damaging Het
Cideb C A 14: 55,992,017 (GRCm39) R179L possibly damaging Het
Cmtr1 G A 17: 29,916,143 (GRCm39) R591H probably benign Het
Dync1li2 A T 8: 105,169,130 (GRCm39) S34T possibly damaging Het
Eri2 A G 7: 119,390,389 (GRCm39) Y80H probably damaging Het
Eya2 A G 2: 165,596,401 (GRCm39) E304G probably damaging Het
Fam135a A C 1: 24,094,979 (GRCm39) L130V probably damaging Het
Fancb A T X: 163,774,594 (GRCm39) K410N probably damaging Het
Gabpb2 A C 3: 95,107,502 (GRCm39) V191G probably damaging Het
Gfm1 A G 3: 67,345,893 (GRCm39) H197R possibly damaging Het
Gm11595 A G 11: 99,663,365 (GRCm39) V105A unknown Het
Hectd3 T A 4: 116,856,840 (GRCm39) D462E probably damaging Het
Herc1 G T 9: 66,315,334 (GRCm39) V1139L probably benign Het
Itgal T C 7: 126,901,183 (GRCm39) F190L probably damaging Het
Krt87 G A 15: 101,336,327 (GRCm39) H109Y probably benign Het
Lmf2 T C 15: 89,238,771 (GRCm39) Y115C probably benign Het
Papolg T A 11: 23,826,377 (GRCm39) Y259F possibly damaging Het
Parn T C 16: 13,485,467 (GRCm39) I10V probably benign Het
Pdcd11 T A 19: 47,102,989 (GRCm39) probably benign Het
Phldb2 T A 16: 45,583,465 (GRCm39) Q1003L possibly damaging Het
Pigg T A 5: 108,489,944 (GRCm39) F850I probably damaging Het
Pkp4 T C 2: 59,138,701 (GRCm39) L317P probably damaging Het
Polr2a T C 11: 69,634,620 (GRCm39) probably benign Het
Prdm16 G A 4: 154,426,426 (GRCm39) T453M possibly damaging Het
Rnf144b A T 13: 47,360,969 (GRCm39) E36D possibly damaging Het
Ryr2 G A 13: 11,750,388 (GRCm39) T1961I probably damaging Het
Sash1 T A 10: 8,627,177 (GRCm39) K305I probably damaging Het
Tbc1d7 A T 13: 43,312,797 (GRCm39) I32N probably damaging Het
Thop1 T C 10: 80,917,529 (GRCm39) F623L probably damaging Het
Thsd7b G A 1: 129,541,016 (GRCm39) G297R probably damaging Het
Tln1 C A 4: 43,551,297 (GRCm39) probably benign Het
Vmn1r183 A G 7: 23,754,649 (GRCm39) N151D probably damaging Het
Other mutations in Atp5mc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Atp5mc3 APN 2 73,741,293 (GRCm39) splice site probably benign
IGL01945:Atp5mc3 APN 2 73,741,313 (GRCm39) missense probably benign
R1280:Atp5mc3 UTSW 2 73,739,714 (GRCm39) missense possibly damaging 0.67
R4254:Atp5mc3 UTSW 2 73,740,319 (GRCm39) intron probably benign
R5713:Atp5mc3 UTSW 2 73,739,651 (GRCm39) missense probably benign
R6782:Atp5mc3 UTSW 2 73,739,672 (GRCm39) missense probably benign
R7939:Atp5mc3 UTSW 2 73,740,206 (GRCm39) critical splice donor site probably null
R9667:Atp5mc3 UTSW 2 73,739,567 (GRCm39) missense probably damaging 0.98
Posted On 2013-04-17