Incidental Mutation 'R1280:Atp5mc3'
ID 150993
Institutional Source Beutler Lab
Gene Symbol Atp5mc3
Ensembl Gene ENSMUSG00000018770
Gene Name ATP synthase membrane subunit c locus 3
Synonyms Atp5g3
MMRRC Submission 039346-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R1280 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 73738791-73741670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73739714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 42 (T42K)
Ref Sequence ENSEMBL: ENSMUSP00000107627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018914] [ENSMUST00000111996]
AlphaFold P56384
Predicted Effect possibly damaging
Transcript: ENSMUST00000018914
AA Change: T42K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018914
Gene: ENSMUSG00000018770
AA Change: T42K

DomainStartEndE-ValueType
Pfam:ATP-synt_C 73 138 7.9e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111996
AA Change: T42K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107627
Gene: ENSMUSG00000018770
AA Change: T42K

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: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.1%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Brd2 T C 17: 34,333,124 (GRCm39) M60V possibly damaging Het
Cabp1 T C 5: 115,313,530 (GRCm39) N226S probably benign Het
Cers6 G A 2: 68,899,033 (GRCm39) V224I probably benign Het
Entpd2 C T 2: 25,289,496 (GRCm39) S326F probably damaging Het
Fez1 GACAAACA GACA 9: 36,781,845 (GRCm39) probably null Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Klhdc7a G A 4: 139,692,764 (GRCm39) R728C probably benign Het
Myo18b A G 5: 112,871,671 (GRCm39) probably null Het
Mzf1 A T 7: 12,787,010 (GRCm39) L20Q probably damaging Het
Neil1 T C 9: 57,054,185 (GRCm39) Y45C probably damaging Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Rbm12 T C 2: 155,938,749 (GRCm39) K508E probably damaging Het
Socs4 A T 14: 47,528,370 (GRCm39) Q435L probably benign Het
Tdrd9 T C 12: 112,005,842 (GRCm39) V905A probably damaging Het
Tekt4 T A 17: 25,690,861 (GRCm39) W56R probably damaging Het
Ttn A T 2: 76,608,508 (GRCm39) I16059N possibly damaging Het
Ubqln3 A G 7: 103,791,283 (GRCm39) V269A possibly damaging Het
Vps54 T A 11: 21,227,868 (GRCm39) I273N possibly damaging Het
Zfp831 A G 2: 174,545,852 (GRCm39) K1319R 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
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
Predicted Primers PCR Primer
(F):5'- TGCCAAAGACTGTTCCAATACCAGC -3'
(R):5'- GGCCAGCACAACCTTCTGAATTAGC -3'

Sequencing Primer
(F):5'- TGTTCCAATACCAGCACCAG -3'
(R):5'- CCAAAAAAGCCTGCTTTGTTG -3'
Posted On 2014-01-29