Incidental Mutation 'R4670:Atp5f1c'
ID 348341
Institutional Source Beutler Lab
Gene Symbol Atp5f1c
Ensembl Gene ENSMUSG00000025781
Gene Name ATP synthase F1 subunit gamma
Synonyms Atp5c1, 1700094F02Rik, F1 gamma
MMRRC Submission 041926-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R4670 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 10060841-10085321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10064428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 226 (L226Q)
Ref Sequence ENSEMBL: ENSMUSP00000110547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026887] [ENSMUST00000114896] [ENSMUST00000114897] [ENSMUST00000130067] [ENSMUST00000139810] [ENSMUST00000145530] [ENSMUST00000153554]
AlphaFold Q91VR2
Predicted Effect probably damaging
Transcript: ENSMUST00000026887
AA Change: L226Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026887
Gene: ENSMUSG00000025781
AA Change: L226Q

DomainStartEndE-ValueType
Pfam:ATP-synt 26 297 1.7e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114896
AA Change: L202Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110546
Gene: ENSMUSG00000025781
AA Change: L202Q

DomainStartEndE-ValueType
Pfam:ATP-synt 2 273 1.2e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114897
AA Change: L226Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110547
Gene: ENSMUSG00000025781
AA Change: L226Q

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: ENSMUST00000139810
SMART Domains Protein: ENSMUSP00000123100
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 2 153 6.1e-39 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: ENSMUST00000153554
SMART Domains Protein: ENSMUSP00000116368
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 2 171 1.2e-43 PFAM
Meta Mutation Damage Score 0.9243 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (69/71)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 T A 7: 119,130,983 (GRCm39) probably null Het
Alb T A 5: 90,610,665 (GRCm39) S82T probably benign Het
Arf4 A G 14: 26,374,248 (GRCm39) probably benign Het
Arhgap22 T C 14: 33,084,500 (GRCm39) C260R probably damaging Het
Arhgap32 A G 9: 32,081,441 (GRCm39) E153G probably benign Het
Arhgef18 T A 8: 3,484,897 (GRCm39) M200K probably damaging Het
Atp1a4 T A 1: 172,062,567 (GRCm39) N647Y probably benign Het
Bcas1 T C 2: 170,226,245 (GRCm39) K310R probably damaging Het
Cadm3 T A 1: 173,174,013 (GRCm39) T67S probably damaging Het
Cartpt C T 13: 100,036,588 (GRCm39) probably null Het
Cenpj A T 14: 56,790,840 (GRCm39) V403E possibly damaging Het
Chst7 C A X: 19,927,110 (GRCm39) R386S probably damaging Het
Cyp4f37 A T 17: 32,844,126 (GRCm39) M77L probably benign Het
Dnah7b A T 1: 46,117,684 (GRCm39) D50V probably damaging Het
Galnt4 A G 10: 98,945,160 (GRCm39) D295G possibly damaging Het
Gin1 C T 1: 97,712,565 (GRCm39) P154S probably damaging Het
Gm6471 G A 7: 142,385,360 (GRCm39) noncoding transcript Het
Gm6818 T A 7: 38,101,981 (GRCm39) noncoding transcript Het
Gm9271 T A 7: 39,013,734 (GRCm39) noncoding transcript Het
Gpam A G 19: 55,084,551 (GRCm39) probably null Het
Gpr183 T C 14: 122,192,149 (GRCm39) D124G probably damaging Het
Ift140 C A 17: 25,317,935 (GRCm39) probably benign Het
Itih5 A C 2: 10,195,180 (GRCm39) I191L probably benign Het
Jcad A G 18: 4,674,175 (GRCm39) T646A probably benign Het
Kank1 T C 19: 25,387,944 (GRCm39) M511T probably benign Het
Krt74 A T 15: 101,667,304 (GRCm39) noncoding transcript Het
Lrrc37a A G 11: 103,395,363 (GRCm39) S21P probably benign Het
Lrrc8c G A 5: 105,756,240 (GRCm39) V672I probably benign Het
Lypd4 T C 7: 24,566,151 (GRCm39) R58G probably benign Het
Magi1 A T 6: 93,663,624 (GRCm39) probably null Het
Mefv T A 16: 3,526,071 (GRCm39) L745F possibly damaging Het
Myh13 A T 11: 67,255,564 (GRCm39) K1645* probably null Het
Naip6 A G 13: 100,431,239 (GRCm39) probably null Het
Nlrp1c-ps T C 11: 71,171,382 (GRCm39) noncoding transcript Het
Nsmce3 A T 7: 64,522,530 (GRCm39) L46Q probably benign Het
Or51aa2 A G 7: 103,188,393 (GRCm39) V16A possibly damaging Het
Or6k6 T A 1: 173,945,427 (GRCm39) M52L probably benign Het
Or8k37 T C 2: 86,469,512 (GRCm39) D180G possibly damaging Het
P2ry12 T C 3: 59,125,325 (GRCm39) probably null Het
Pcx T A 19: 4,669,916 (GRCm39) V861E probably damaging Het
Pkp3 C T 7: 140,662,612 (GRCm39) P75S probably benign Het
Plscr4 T C 9: 92,364,920 (GRCm39) probably null Het
Pole A G 5: 110,454,253 (GRCm39) T923A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rhot2 A C 17: 26,060,305 (GRCm39) probably benign Het
Rsrp1 A G 4: 134,651,488 (GRCm39) Y84C unknown Het
Sbf2 T C 7: 109,934,606 (GRCm39) K1348E probably damaging Het
Sgip1 A T 4: 102,726,951 (GRCm39) N53Y probably damaging Het
Snapc2 A G 8: 4,304,998 (GRCm39) T127A possibly damaging Het
Snx8 A G 5: 140,341,713 (GRCm39) probably null Het
Spag8 A G 4: 43,653,378 (GRCm39) probably benign Het
Srebf2 T C 15: 82,076,503 (GRCm39) F718L probably damaging Het
Szt2 C G 4: 118,233,026 (GRCm39) probably benign Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Tubgcp4 T A 2: 121,004,146 (GRCm39) Y62* probably null Het
Usp29 T A 7: 6,965,914 (GRCm39) S586T possibly damaging Het
Vasp T C 7: 18,998,350 (GRCm39) N108S probably benign Het
Vmn1r214 A G 13: 23,219,141 (GRCm39) M212V probably benign Het
Wipi2 G C 5: 142,645,345 (GRCm39) A194P probably benign Het
Zbtb4 T A 11: 69,667,355 (GRCm39) I220N probably damaging Het
Zcchc2 A T 1: 105,917,996 (GRCm39) probably benign Het
Zfp729a T A 13: 67,769,534 (GRCm39) K232* probably null Het
Zfp995 A T 17: 22,106,320 (GRCm39) M1K probably null 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
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
R6536:Atp5f1c UTSW 2 10,085,127 (GRCm39) unclassified probably benign
R9050:Atp5f1c UTSW 2 10,069,049 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCACTACTCTGAGCAAAGC -3'
(R):5'- AGCCTGTTGACACATATTTTGCTG -3'

Sequencing Primer
(F):5'- GCACACACAGGTTCTCGTTC -3'
(R):5'- GAACAGATTCATTTACCTCAAGAT -3'
Posted On 2015-10-08