Incidental Mutation 'IGL01945:Atp5mc3'
ID 181212
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 # IGL01945
Quality Score
Status
Chromosome 2
Chromosomal Location 73738791-73741670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73741313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 9 (R9C)
Ref Sequence ENSEMBL: ENSMUSP00000107627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018914] [ENSMUST00000111996]
AlphaFold P56384
Predicted Effect probably benign
Transcript: ENSMUST00000018914
AA Change: R9C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018914
Gene: ENSMUSG00000018770
AA Change: R9C

DomainStartEndE-ValueType
Pfam:ATP-synt_C 73 138 7.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111996
AA Change: R9C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107627
Gene: ENSMUSG00000018770
AA Change: R9C

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 109,974,130 (GRCm39) probably benign Het
Acta2 A G 19: 34,229,254 (GRCm39) V45A probably benign Het
Adam11 G A 11: 102,663,736 (GRCm39) V305M probably damaging Het
Adcy1 A G 11: 7,111,891 (GRCm39) K919E probably damaging Het
Afap1l1 T C 18: 61,889,934 (GRCm39) T101A probably benign Het
Apbb2 T A 5: 66,557,594 (GRCm39) D289V probably damaging Het
Appl1 A G 14: 26,650,612 (GRCm39) V520A possibly damaging Het
Atp8a2 A G 14: 60,263,609 (GRCm39) L375P probably damaging Het
Cavin1 A T 11: 100,861,246 (GRCm39) F16Y probably benign Het
Ccdc185 C A 1: 182,576,441 (GRCm39) V83L probably benign Het
Ccdc80 T A 16: 44,938,608 (GRCm39) S772T probably damaging Het
Cntn4 T A 6: 106,414,865 (GRCm39) V132E probably damaging Het
Coa5 A T 1: 37,468,979 (GRCm39) C24S probably damaging Het
Col6a5 A T 9: 105,805,489 (GRCm39) V1139D unknown Het
Ddx46 C A 13: 55,802,885 (GRCm39) S469* probably null Het
Ep300 A G 15: 81,500,310 (GRCm39) probably benign Het
Fcna A T 2: 25,517,847 (GRCm39) M1K probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gstm3 T C 3: 107,874,973 (GRCm39) E93G probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Hepacam2 T A 6: 3,487,117 (GRCm39) Y4F probably benign Het
Hipk1 T C 3: 103,651,320 (GRCm39) I1148V possibly damaging Het
Il1r2 A G 1: 40,141,613 (GRCm39) T9A possibly damaging Het
Kl A T 5: 150,912,402 (GRCm39) D717V probably damaging Het
Krt75 G A 15: 101,478,599 (GRCm39) T345M possibly damaging Het
Myo5a T A 9: 75,047,953 (GRCm39) H260Q probably damaging Het
Nckap1l G A 15: 103,370,069 (GRCm39) G156D probably damaging Het
Nlrp1b T G 11: 71,072,233 (GRCm39) T537P probably damaging Het
Nudt17 A G 3: 96,614,355 (GRCm39) I201T probably damaging Het
Or5k3 T C 16: 58,969,827 (GRCm39) S205P probably benign Het
Or6c8 A T 10: 128,915,172 (GRCm39) I220N probably damaging Het
Or7g27 A T 9: 19,250,628 (GRCm39) S291C probably damaging Het
Padi6 T C 4: 140,469,235 (GRCm39) D35G probably benign Het
Plcb1 A T 2: 135,062,711 (GRCm39) Y107F probably benign Het
Plek2 T A 12: 78,938,922 (GRCm39) H279L probably damaging Het
Plk2 A G 13: 110,535,588 (GRCm39) D470G possibly damaging Het
Ranbp17 T C 11: 33,278,520 (GRCm39) T116A possibly damaging Het
Rbck1 G A 2: 152,160,236 (GRCm39) P481L probably damaging Het
Reps1 A G 10: 17,969,584 (GRCm39) N229S probably benign Het
Rngtt T C 4: 33,339,073 (GRCm39) W293R probably damaging Het
Robo1 A T 16: 72,759,114 (GRCm39) I376F probably damaging Het
Ryr2 T A 13: 11,805,249 (GRCm39) I872F probably damaging Het
Sgip1 T C 4: 102,823,439 (GRCm39) Y707H probably damaging Het
Slc17a5 G T 9: 78,495,214 (GRCm39) D12E probably benign Het
Slco1a5 T A 6: 142,189,715 (GRCm39) probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strap A G 6: 137,718,333 (GRCm39) I146V probably benign Het
Tcim A T 8: 24,928,892 (GRCm39) H7Q probably benign Het
Tgfbr3 A G 5: 107,269,224 (GRCm39) probably null Het
Thada G T 17: 84,530,194 (GRCm39) T1725N probably benign Het
Trhr T C 15: 44,060,540 (GRCm39) V20A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wnt5a A G 14: 28,240,519 (GRCm39) N223S probably damaging Het
Other mutations in Atp5mc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Atp5mc3 APN 2 73,740,270 (GRCm39) nonsense probably null
IGL01125:Atp5mc3 APN 2 73,741,293 (GRCm39) splice site 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 2014-05-07