Incidental Mutation 'R6536:Atp5f1c'
ID 520381
Institutional Source Beutler Lab
Gene Symbol Atp5f1c
Ensembl Gene ENSMUSG00000025781
Gene Name ATP synthase F1 subunit gamma
Synonyms Atp5c1, 1700094F02Rik, F1 gamma
MMRRC Submission 044662-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R6536 (G1)
Quality Score 157.009
Status Not validated
Chromosome 2
Chromosomal Location 10060841-10085321 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 10085127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026887] [ENSMUST00000042512] [ENSMUST00000114896] [ENSMUST00000114897] [ENSMUST00000130067] [ENSMUST00000145530] [ENSMUST00000139810] [ENSMUST00000153554]
AlphaFold Q91VR2
Predicted Effect probably benign
Transcript: ENSMUST00000026887
SMART Domains Protein: ENSMUSP00000026887
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 26 297 1.7e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042512
SMART Domains Protein: ENSMUSP00000043614
Gene: ENSMUSG00000037262

DomainStartEndE-ValueType
ZnF_C2H2 26 50 2.35e1 SMART
Kin17_mid 52 178 5.41e-89 SMART
low complexity region 209 224 N/A INTRINSIC
low complexity region 242 258 N/A INTRINSIC
low complexity region 290 300 N/A INTRINSIC
KOW 334 361 1.97e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104545
Predicted Effect probably benign
Transcript: ENSMUST00000114896
SMART Domains Protein: ENSMUSP00000110546
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 2 273 1.2e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114897
SMART Domains Protein: ENSMUSP00000110547
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 27 297 6.8e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130067
SMART Domains Protein: ENSMUSP00000117182
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 2 101 2.1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145530
SMART Domains Protein: ENSMUSP00000116508
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 2 187 1.2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139810
SMART Domains Protein: ENSMUSP00000123100
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 2 153 6.1e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142599
Predicted Effect probably benign
Transcript: ENSMUST00000153554
SMART Domains Protein: ENSMUSP00000116368
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 2 171 1.2e-43 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 G T 11: 48,910,550 (GRCm39) H628N probably benign Het
Abcb1a T A 5: 8,769,030 (GRCm39) F751I probably benign Het
Adamts13 G A 2: 26,865,762 (GRCm39) V106M probably damaging Het
Add1 C A 5: 34,758,780 (GRCm39) N31K possibly damaging Het
Adgrf5 G T 17: 43,733,552 (GRCm39) probably benign Het
Akap11 T G 14: 78,748,754 (GRCm39) D1211A possibly damaging Het
Cd320 T C 17: 34,066,477 (GRCm39) S72P probably benign Het
Clca4b C A 3: 144,622,490 (GRCm39) W525L possibly damaging Het
Cripto A T 9: 110,773,257 (GRCm39) probably null Het
Csmd3 G A 15: 47,701,863 (GRCm39) T1740I probably damaging Het
Dnah7c T G 1: 46,697,450 (GRCm39) S2122A probably benign Het
Enpp2 T C 15: 54,726,027 (GRCm39) N583S probably damaging Het
Fcsk A G 8: 111,610,511 (GRCm39) V964A possibly damaging Het
Gpd2 A T 2: 57,235,367 (GRCm39) I366F probably benign Het
Hsd17b2 G A 8: 118,428,921 (GRCm39) V63M possibly damaging Het
Hsdl2 A T 4: 59,610,508 (GRCm39) probably null Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Ifi44 A G 3: 151,438,126 (GRCm39) V387A probably benign Het
Kcnc4 T C 3: 107,355,512 (GRCm39) D312G possibly damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Klra6 C T 6: 130,000,682 (GRCm39) V41I probably benign Het
Lrp1 A G 10: 127,393,937 (GRCm39) probably null Het
Mpdz T C 4: 81,301,654 (GRCm39) E257G probably damaging Het
Or10v1 T C 19: 11,873,760 (GRCm39) V125A probably benign Het
Or4f14 T C 2: 111,743,119 (GRCm39) D52G possibly damaging Het
Papln A G 12: 83,828,661 (GRCm39) Y789C probably damaging Het
Pcdh15 T C 10: 74,467,221 (GRCm39) L1680P probably damaging Het
Pcdhac1 A G 18: 37,223,367 (GRCm39) N60S probably benign Het
Polr3g T C 13: 81,826,335 (GRCm39) N162S unknown Het
Pou3f3 A G 1: 42,737,374 (GRCm39) I357V probably damaging Het
Sycp2 A G 2: 177,993,441 (GRCm39) S1235P probably damaging Het
Tns3 A T 11: 8,384,531 (GRCm39) V1429E probably damaging Het
Trim67 T C 8: 125,521,081 (GRCm39) S148P possibly damaging Het
Usp49 A T 17: 47,990,617 (GRCm39) I348F probably damaging Het
Wac A T 18: 7,905,189 (GRCm39) probably null Het
Zfp775 A G 6: 48,596,543 (GRCm39) K139R probably damaging Het
Other mutations in Atp5f1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Atp5f1c APN 2 10,073,477 (GRCm39) missense probably damaging 1.00
R3106:Atp5f1c UTSW 2 10,068,276 (GRCm39) missense probably benign 0.35
R4651:Atp5f1c UTSW 2 10,068,287 (GRCm39) missense probably damaging 1.00
R4670:Atp5f1c UTSW 2 10,064,428 (GRCm39) missense probably damaging 1.00
R5097:Atp5f1c UTSW 2 10,068,323 (GRCm39) missense probably benign 0.01
R5275:Atp5f1c UTSW 2 10,073,544 (GRCm39) missense possibly damaging 0.51
R5295:Atp5f1c UTSW 2 10,073,544 (GRCm39) missense possibly damaging 0.51
R6195:Atp5f1c UTSW 2 10,068,926 (GRCm39) missense possibly damaging 0.79
R9050:Atp5f1c UTSW 2 10,069,049 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2018-06-06