Incidental Mutation 'R4864:Atp5f1a'
ID 374792
Institutional Source Beutler Lab
Gene Symbol Atp5f1a
Ensembl Gene ENSMUSG00000025428
Gene Name ATP synthase F1 subunit alpha
Synonyms Atp5a1, Atpm, D18Ertd206e, Mom2
MMRRC Submission 042474-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4864 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 77861468-77870569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77869015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 413 (R413H)
Ref Sequence ENSEMBL: ENSMUSP00000110396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026495] [ENSMUST00000114748] [ENSMUST00000135678]
AlphaFold Q03265
Predicted Effect possibly damaging
Transcript: ENSMUST00000026495
AA Change: R463H

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: R463H

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
Pfam:ATP-synt_ab_N 67 135 3.4e-17 PFAM
Pfam:ATP-synt_ab 192 415 5.7e-76 PFAM
Pfam:ATP-synt_ab_C 427 528 1.3e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114748
AA Change: R413H

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: R413H

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 17 85 1.1e-19 PFAM
Pfam:ATP-synt_ab 141 365 4.8e-75 PFAM
Pfam:ATP-synt_ab_C 377 479 2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128073
Predicted Effect probably benign
Transcript: ENSMUST00000135678
SMART Domains Protein: ENSMUSP00000120436
Gene: ENSMUSG00000025428

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
PDB:2W6J|C 22 78 5e-27 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146869
Meta Mutation Damage Score 0.8394 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 99% (93/94)
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, using 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 alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice carrying a targeted mutation of this gene display preweaning and embryonic lethality. Heterozygous mutants exhibit decreased body weight and lean body mass and reduced circulating insulin, serum albumin, and total protein levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Acp6 T C 3: 97,066,683 (GRCm39) probably null Het
Adora3 T A 3: 105,815,131 (GRCm39) Y148N probably damaging Het
Ahnak2 G A 12: 112,740,040 (GRCm39) S538L probably damaging Het
Aox3 T G 1: 58,215,646 (GRCm39) V1026G probably damaging Het
Ap3d1 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 10: 80,548,612 (GRCm39) probably null Het
Arhgef37 G A 18: 61,627,996 (GRCm39) A649V probably benign Het
Bace1 A T 9: 45,766,109 (GRCm39) I179F probably damaging Het
Brinp1 A G 4: 68,717,123 (GRCm39) F242L probably damaging Het
Brk1 T C 6: 113,592,805 (GRCm39) Y63H possibly damaging Het
Ccdc74a A G 16: 17,466,736 (GRCm39) T148A probably benign Het
Cenpc1 T A 5: 86,193,180 (GRCm39) L236F probably damaging Het
Col13a1 C T 10: 61,698,439 (GRCm39) E541K unknown Het
Copg1 T A 6: 87,866,678 (GRCm39) C44S probably damaging Het
D130043K22Rik A G 13: 25,047,595 (GRCm39) E380G probably damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dgkd A T 1: 87,844,560 (GRCm39) N242I possibly damaging Het
Dnah2 C T 11: 69,313,416 (GRCm39) V4248I probably damaging Het
Dpy19l3 T A 7: 35,411,607 (GRCm39) K376* probably null Het
Eef1d A G 15: 75,775,255 (GRCm39) S135P possibly damaging Het
Epc2 T A 2: 49,427,177 (GRCm39) S574T probably benign Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Eps8 T C 6: 137,455,967 (GRCm39) probably benign Het
Exoc5 A T 14: 49,289,839 (GRCm39) V13E probably benign Het
Fbn1 A T 2: 125,214,317 (GRCm39) C765S possibly damaging Het
Fbxo5 A T 10: 5,752,392 (GRCm39) C74S probably benign Het
Fbxw9 T C 8: 85,792,530 (GRCm39) S322P probably damaging Het
Fmo5 T A 3: 97,553,195 (GRCm39) I381N probably damaging Het
Fmo6 T C 1: 162,751,964 (GRCm39) D175G probably benign Het
Gm7361 A G 5: 26,467,008 (GRCm39) probably null Het
Gm9961 G A 16: 11,720,899 (GRCm39) probably benign Het
Golga7b T A 19: 42,255,405 (GRCm39) probably null Het
Gorab T C 1: 163,213,967 (GRCm39) E321G probably benign Het
Gpx1 T A 9: 108,216,594 (GRCm39) V28E probably benign Het
H2-T15 T A 17: 36,369,253 (GRCm39) probably benign Het
H3c14 T C 3: 96,154,575 (GRCm39) I125T probably damaging Het
Hk1 T C 10: 62,178,318 (GRCm39) S8G probably benign Het
Iqsec1 C T 6: 90,641,038 (GRCm39) R1026H probably damaging Het
Kdm4b A T 17: 56,660,091 (GRCm39) Y86F probably benign Het
Kprp C T 3: 92,731,829 (GRCm39) R407Q unknown Het
Lamb1 C T 12: 31,371,005 (GRCm39) T1400M probably benign Het
Lcor G T 19: 41,573,803 (GRCm39) A853S probably benign Het
Lrriq3 T A 3: 154,893,447 (GRCm39) Y383N possibly damaging Het
Map3k21 T C 8: 126,654,294 (GRCm39) I371T probably benign Het
Mllt1 A T 17: 57,212,819 (GRCm39) F105I probably damaging Het
Nfatc2 A G 2: 168,378,312 (GRCm39) M451T probably damaging Het
Nfkbiz A C 16: 55,638,787 (GRCm39) N224K probably damaging Het
Nlrp4d A G 7: 10,115,088 (GRCm39) V531A noncoding transcript Het
Noc3l A G 19: 38,778,081 (GRCm39) Y778H probably benign Het
Nup98 C A 7: 101,802,403 (GRCm39) A734S possibly damaging Het
Or2ag18 T C 7: 106,405,171 (GRCm39) Y166C probably damaging Het
Or4k2 T A 14: 50,424,039 (GRCm39) I212F probably damaging Het
Or9g20 A G 2: 85,630,033 (GRCm39) Y194H probably damaging Het
Or9r7 T A 10: 129,962,756 (GRCm39) R57* probably null Het
Pate4 A T 9: 35,519,535 (GRCm39) C52S probably damaging Het
Pecr C A 1: 72,316,490 (GRCm39) A72S probably benign Het
Pomt1 A G 2: 32,142,004 (GRCm39) N578S probably benign Het
Ppm1a T C 12: 72,830,738 (GRCm39) S88P probably benign Het
Ppm1l T A 3: 69,449,844 (GRCm39) probably benign Het
Prdm13 A G 4: 21,685,543 (GRCm39) S86P unknown Het
Prph2 T C 17: 47,221,848 (GRCm39) S76P probably benign Het
Sarnp G A 10: 128,669,212 (GRCm39) R23H probably damaging Het
Septin1 T C 7: 126,816,064 (GRCm39) probably benign Het
Serpini1 T C 3: 75,520,481 (GRCm39) I26T probably benign Het
Setdb2 A G 14: 59,646,715 (GRCm39) I616T probably benign Het
Slc2a10 T C 2: 165,356,541 (GRCm39) F67S probably benign Het
Slc38a6 T A 12: 73,390,424 (GRCm39) probably null Het
Smg6 T C 11: 74,820,988 (GRCm39) S420P possibly damaging Het
Srp72 T A 5: 77,132,009 (GRCm39) H229Q probably benign Het
Ston2 A G 12: 91,615,448 (GRCm39) V320A possibly damaging Het
Stx3 A T 19: 11,754,515 (GRCm39) I269N possibly damaging Het
Tdg-ps A G 15: 82,400,843 (GRCm39) noncoding transcript Het
Tecpr1 T A 5: 144,150,935 (GRCm39) N291I probably benign Het
Tmem177 A G 1: 119,838,553 (GRCm39) V42A probably benign Het
Trim26 T A 17: 37,168,886 (GRCm39) probably benign Het
Ttc17 A G 2: 94,196,980 (GRCm39) S456P probably benign Het
Tubgcp6 T C 15: 88,988,021 (GRCm39) Y984C probably benign Het
Unc5cl A G 17: 48,766,872 (GRCm39) E82G possibly damaging Het
Uncx T C 5: 139,529,875 (GRCm39) S43P probably damaging Het
Vmn1r1 A G 1: 181,985,332 (GRCm39) V111A probably benign Het
Vmn1r168 A G 7: 23,240,907 (GRCm39) I255V probably damaging Het
Vwce A G 19: 10,628,000 (GRCm39) T487A probably benign Het
Xaf1 A G 11: 72,197,682 (GRCm39) probably benign Het
Zfp27 G T 7: 29,594,261 (GRCm39) P568Q probably damaging Het
Zfp382 A T 7: 29,832,885 (GRCm39) I179F possibly damaging Het
Other mutations in Atp5f1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Atp5f1a APN 18 77,865,233 (GRCm39) missense probably damaging 1.00
IGL01536:Atp5f1a APN 18 77,868,012 (GRCm39) intron probably benign
IGL01585:Atp5f1a APN 18 77,868,758 (GRCm39) missense possibly damaging 0.95
IGL02973:Atp5f1a APN 18 77,867,849 (GRCm39) missense probably damaging 1.00
R0268:Atp5f1a UTSW 18 77,867,895 (GRCm39) missense probably damaging 0.96
R0344:Atp5f1a UTSW 18 77,867,895 (GRCm39) missense probably damaging 0.96
R0399:Atp5f1a UTSW 18 77,869,536 (GRCm39) nonsense probably null
R0464:Atp5f1a UTSW 18 77,867,622 (GRCm39) missense probably benign 0.04
R1471:Atp5f1a UTSW 18 77,868,969 (GRCm39) missense probably damaging 1.00
R1476:Atp5f1a UTSW 18 77,869,625 (GRCm39) missense probably benign 0.00
R1630:Atp5f1a UTSW 18 77,865,267 (GRCm39) missense possibly damaging 0.94
R2102:Atp5f1a UTSW 18 77,870,017 (GRCm39) missense probably damaging 0.99
R4424:Atp5f1a UTSW 18 77,867,766 (GRCm39) intron probably benign
R4746:Atp5f1a UTSW 18 77,866,442 (GRCm39) missense probably benign 0.00
R5191:Atp5f1a UTSW 18 77,867,929 (GRCm39) missense probably damaging 1.00
R6217:Atp5f1a UTSW 18 77,869,056 (GRCm39) missense probably benign
R6262:Atp5f1a UTSW 18 77,868,912 (GRCm39) missense probably damaging 1.00
R6263:Atp5f1a UTSW 18 77,866,930 (GRCm39) splice site probably null
R6284:Atp5f1a UTSW 18 77,866,168 (GRCm39) missense probably benign 0.30
R6873:Atp5f1a UTSW 18 77,863,540 (GRCm39) nonsense probably null
R7442:Atp5f1a UTSW 18 77,866,820 (GRCm39) missense probably benign 0.04
R7661:Atp5f1a UTSW 18 77,861,802 (GRCm39) missense possibly damaging 0.70
R7696:Atp5f1a UTSW 18 77,868,686 (GRCm39) missense probably damaging 1.00
R7846:Atp5f1a UTSW 18 77,869,015 (GRCm39) missense possibly damaging 0.84
R8473:Atp5f1a UTSW 18 77,867,625 (GRCm39) missense probably damaging 1.00
R8785:Atp5f1a UTSW 18 77,866,923 (GRCm39) missense probably benign 0.05
R9062:Atp5f1a UTSW 18 77,866,459 (GRCm39) nonsense probably null
R9275:Atp5f1a UTSW 18 77,868,997 (GRCm39) missense probably damaging 1.00
R9301:Atp5f1a UTSW 18 77,868,938 (GRCm39) missense probably damaging 1.00
X0021:Atp5f1a UTSW 18 77,868,973 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGACACAGGAGTTTGTTACTAGC -3'
(R):5'- CTGGCAGTGTTACACAGCATTTG -3'

Sequencing Primer
(F):5'- CTAACTTGTGTGCTCAGGT -3'
(R):5'- ACAGCATTTGTGGTGTAATTTGTCAC -3'
Posted On 2016-03-17