Incidental Mutation 'R5097:Atp5f1c'
ID 388063
Institutional Source Beutler Lab
Gene Symbol Atp5f1c
Ensembl Gene ENSMUSG00000025781
Gene Name ATP synthase F1 subunit gamma
Synonyms Atp5c1, 1700094F02Rik, F1 gamma
MMRRC Submission 042686-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R5097 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 10060841-10085321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10068323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 144 (V144A)
Ref Sequence ENSEMBL: ENSMUSP00000110546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026887] [ENSMUST00000114896] [ENSMUST00000114897] [ENSMUST00000130067] [ENSMUST00000139810] [ENSMUST00000145530] [ENSMUST00000153554]
AlphaFold Q91VR2
Predicted Effect probably benign
Transcript: ENSMUST00000026887
AA Change: V168A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026887
Gene: ENSMUSG00000025781
AA Change: V168A

DomainStartEndE-ValueType
Pfam:ATP-synt 26 297 1.7e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114896
AA Change: V144A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000110546
Gene: ENSMUSG00000025781
AA Change: V144A

DomainStartEndE-ValueType
Pfam:ATP-synt 2 273 1.2e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114897
AA Change: V168A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000110547
Gene: ENSMUSG00000025781
AA Change: V168A

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
AA Change: V144A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123100
Gene: ENSMUSG00000025781
AA Change: V144A

DomainStartEndE-ValueType
Pfam:ATP-synt 2 153 6.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145530
AA Change: V144A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116508
Gene: ENSMUSG00000025781
AA Change: V144A

DomainStartEndE-ValueType
Pfam:ATP-synt 2 187 1.2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153554
AA Change: V144A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000116368
Gene: ENSMUSG00000025781
AA Change: V144A

DomainStartEndE-ValueType
Pfam:ATP-synt 2 171 1.2e-43 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C A 5: 89,840,909 (GRCm39) V805F probably damaging Het
Adgrb3 G A 1: 25,865,165 (GRCm39) T226M probably damaging Het
Ak5 A G 3: 152,187,270 (GRCm39) S406P probably damaging Het
Akt3 C G 1: 177,076,254 (GRCm39) V12L probably benign Het
Arhgef40 A C 14: 52,227,146 (GRCm39) S397R probably damaging Het
Ccser1 A G 6: 61,289,144 (GRCm39) S436G probably benign Het
Clgn G T 8: 84,137,152 (GRCm39) V290F possibly damaging Het
Dis3l T A 9: 64,226,498 (GRCm39) D261V probably damaging Het
Dnah11 T A 12: 117,981,435 (GRCm39) Y2577F probably damaging Het
Evi5l A G 8: 4,243,317 (GRCm39) E371G probably damaging Het
Fat2 A G 11: 55,201,530 (GRCm39) S515P probably damaging Het
Fsip2 A G 2: 82,822,329 (GRCm39) I6021V probably benign Het
Ftdc1 A C 16: 58,434,227 (GRCm39) N163K probably benign Het
Gstm5 A T 3: 107,803,258 (GRCm39) probably benign Het
H2-Oa G A 17: 34,312,809 (GRCm39) D29N probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ireb2 A G 9: 54,802,668 (GRCm39) I434M probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Micall1 A G 15: 79,014,078 (GRCm39) T658A probably benign Het
Mitf C T 6: 97,973,423 (GRCm39) A252V possibly damaging Het
Mpzl1 A G 1: 165,433,285 (GRCm39) I122T probably damaging Het
Mtus2 G A 5: 148,232,392 (GRCm39) V146I probably damaging Het
Myh11 C T 16: 14,023,770 (GRCm39) probably null Het
Myrfl A G 10: 116,653,609 (GRCm39) I486T probably damaging Het
N4bp2 T C 5: 65,974,561 (GRCm39) V1477A probably damaging Het
Ndc1 T A 4: 107,231,358 (GRCm39) S100T probably benign Het
Nek10 T A 14: 14,857,851 (GRCm38) N433K probably benign Het
Noc4l C T 5: 110,799,212 (GRCm39) S190N probably benign Het
Nprl2 A G 9: 107,420,731 (GRCm39) E122G probably damaging Het
Or13a19 A G 7: 139,903,008 (GRCm39) Y132C probably damaging Het
Or1e16 G C 11: 73,286,119 (GRCm39) S243C probably damaging Het
Or6n2 C T 1: 173,897,095 (GRCm39) T77I probably benign Het
Osbpl1a T C 18: 12,896,594 (GRCm39) I324V probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Peg3 C T 7: 6,713,026 (GRCm39) R732H probably damaging Het
Rfc4 A G 16: 22,933,046 (GRCm39) I297T possibly damaging Het
Rpl3l T A 17: 24,952,435 (GRCm39) D218E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sesn2 C T 4: 132,224,209 (GRCm39) V400I probably benign Het
Syt11 C T 3: 88,655,231 (GRCm39) V51I probably benign Het
Tas2r115 A C 6: 132,714,216 (GRCm39) L245R probably damaging Het
Tmem115 G A 9: 107,412,059 (GRCm39) V128I probably benign Het
Trim47 A G 11: 115,997,260 (GRCm39) V499A probably benign Het
Trpm7 A T 2: 126,638,256 (GRCm39) probably null Het
Zfp143 A G 7: 109,687,998 (GRCm39) D479G probably damaging Het
Zfp292 T C 4: 34,839,878 (GRCm39) T91A possibly 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
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'- GCTTACCAGCAGTCGCAATG -3'
(R):5'- AGACAGCCTGACTTGTAGTTC -3'

Sequencing Primer
(F):5'- CAGCAGTCGCAATGGTATTC -3'
(R):5'- TGCAGGTGACTTTAAAGGAATAGTC -3'
Posted On 2016-06-06