Incidental Mutation 'R4254:Atp5mc3'
ID 321728
Institutional Source Beutler Lab
Gene Symbol Atp5mc3
Ensembl Gene ENSMUSG00000018770
Gene Name ATP synthase membrane subunit c locus 3
Synonyms Atp5g3
MMRRC Submission 041067-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R4254 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 73738791-73741670 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 73740319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018914] [ENSMUST00000111996]
AlphaFold P56384
Predicted Effect probably benign
Transcript: ENSMUST00000018914
SMART Domains Protein: ENSMUSP00000018914
Gene: ENSMUSG00000018770

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

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (40/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg1 T G 8: 95,732,530 (GRCm39) probably null Het
Adgrg2 T G X: 159,265,404 (GRCm39) S551R possibly damaging Het
Anapc2 T C 2: 25,163,357 (GRCm39) V198A probably benign Het
Asxl3 T C 18: 22,657,423 (GRCm39) I1811T possibly damaging Het
Ccdc27 A C 4: 154,123,976 (GRCm39) S186A unknown Het
Ccdc28a A G 10: 18,100,683 (GRCm39) L48P probably damaging Het
Cdh19 C T 1: 110,852,760 (GRCm39) A392T probably damaging Het
Cfap65 T C 1: 74,942,517 (GRCm39) D1679G probably benign Het
Copa C T 1: 171,929,811 (GRCm39) R293C probably damaging Het
Depdc1a A G 3: 159,204,124 (GRCm39) R58G probably damaging Het
Dnah5 T A 15: 28,438,248 (GRCm39) S3960T probably benign Het
Dsg4 A T 18: 20,604,595 (GRCm39) T1021S probably benign Het
Hrh1 T A 6: 114,456,962 (GRCm39) M81K probably damaging Het
Ipo11 G A 13: 107,029,017 (GRCm39) T312I probably benign Het
Itgb2l T C 16: 96,231,777 (GRCm39) N330D probably benign Het
Itsn1 G A 16: 91,615,440 (GRCm39) probably benign Het
Kcnb1 A G 2: 166,947,651 (GRCm39) I399T probably damaging Het
Muc13 G A 16: 33,636,221 (GRCm39) M568I probably benign Het
Nlrp1a A C 11: 71,013,854 (GRCm39) Y465* probably null Het
Nwd2 G A 5: 63,963,889 (GRCm39) V1158I possibly damaging Het
Or2h1b A G 17: 37,462,530 (GRCm39) I111T possibly damaging Het
Or5d14 C T 2: 87,880,123 (GRCm39) V282I possibly damaging Het
Or8b101 T A 9: 38,020,546 (GRCm39) L183H probably damaging Het
Ptprr T A 10: 115,998,348 (GRCm39) probably null Het
Rasd2 G A 8: 75,948,538 (GRCm39) E155K probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serinc3 T A 2: 163,478,888 (GRCm39) M80L probably benign Het
Sf1 T C 19: 6,421,677 (GRCm39) V140A probably damaging Het
Slc15a2 A T 16: 36,574,852 (GRCm39) V519E probably benign Het
Slc16a10 A G 10: 39,952,997 (GRCm39) Y166H probably damaging Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Smim29 A T 17: 27,784,696 (GRCm39) probably null Het
Tmbim1 C A 1: 74,333,090 (GRCm39) V92F probably damaging Het
Vsig4 C A X: 95,334,107 (GRCm39) R134L probably benign 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
IGL01945:Atp5mc3 APN 2 73,741,313 (GRCm39) missense probably benign
R1280:Atp5mc3 UTSW 2 73,739,714 (GRCm39) missense possibly damaging 0.67
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
Predicted Primers PCR Primer
(F):5'- AGTTCCTCTCAGTGGCTCAC -3'
(R):5'- TCCACAACACTCAGTCACTTGG -3'

Sequencing Primer
(F):5'- TACACCCCTTCATGATAACAACTCTG -3'
(R):5'- CACTCAGTCACTTGGTAACTAATTGG -3'
Posted On 2015-06-20