Incidental Mutation 'R7442:Atp5f1a'
ID 577058
Institutional Source Beutler Lab
Gene Symbol Atp5f1a
Ensembl Gene ENSMUSG00000025428
Gene Name ATP synthase F1 subunit alpha
Synonyms Atp5a1, Atpm, D18Ertd206e, Mom2
MMRRC Submission 045518-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7442 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 77861468-77870569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77866820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 231 (R231H)
Ref Sequence ENSEMBL: ENSMUSP00000026495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026495] [ENSMUST00000114748] [ENSMUST00000135678]
AlphaFold Q03265
Predicted Effect probably benign
Transcript: ENSMUST00000026495
AA Change: R231H

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: R231H

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 probably benign
Transcript: ENSMUST00000114748
AA Change: R181H

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: R181H

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (76/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,946,919 (GRCm39) I109T probably damaging Het
A430033K04Rik T C 5: 138,645,509 (GRCm39) S465P possibly damaging Het
Acap3 T C 4: 155,990,078 (GRCm39) F753L probably damaging Het
Adam9 A T 8: 25,457,223 (GRCm39) V635E probably damaging Het
Adgre4 T A 17: 56,159,340 (GRCm39) V675E probably benign Het
Anapc4 T C 5: 53,014,543 (GRCm39) Y469H probably benign Het
Ankdd1b T G 13: 96,561,268 (GRCm39) K325N possibly damaging Het
Aox1 T C 1: 58,121,172 (GRCm39) V881A probably damaging Het
Arhgap5 A G 12: 52,563,739 (GRCm39) T237A probably benign Het
Asah1 T C 8: 41,796,602 (GRCm39) D331G possibly damaging Het
Bod1l G A 5: 41,964,522 (GRCm39) P2694L probably damaging Het
Bst1 T C 5: 43,979,084 (GRCm39) S143P probably benign Het
Cacna1b A C 2: 24,497,513 (GRCm39) S2132A probably benign Het
Caps2 G T 10: 112,044,259 (GRCm39) R486L probably damaging Het
Ccdc168 A G 1: 44,097,868 (GRCm39) S1077P possibly damaging Het
Cd68 T C 11: 69,556,754 (GRCm39) T18A probably benign Het
Cdk8 T C 5: 146,229,579 (GRCm39) probably null Het
Col18a1 A T 10: 76,932,072 (GRCm39) I127N unknown Het
Dsc3 T C 18: 20,114,213 (GRCm39) D347G probably damaging Het
Dyrk2 T C 10: 118,695,786 (GRCm39) S491G probably damaging Het
Edem1 T A 6: 108,828,266 (GRCm39) Y530* probably null Het
Enc1 A T 13: 97,383,248 (GRCm39) H586L probably benign Het
Ephb6 T G 6: 41,594,981 (GRCm39) probably null Het
Etv5 G T 16: 22,254,809 (GRCm39) Q48K probably damaging Het
Exoc3l A G 8: 106,019,558 (GRCm39) W404R probably damaging Het
Fbn1 C A 2: 125,245,132 (GRCm39) A252S possibly damaging Het
Foxe3 A G 4: 114,782,490 (GRCm39) S241P unknown Het
Gm49380 T A 9: 44,023,709 (GRCm39) M180L probably benign Het
Hoxd1 A T 2: 74,593,903 (GRCm39) D153V probably damaging Het
Ifi207 C T 1: 173,554,997 (GRCm39) S895N probably benign Het
Igf1r G A 7: 67,823,026 (GRCm39) V385M probably damaging Het
Ints9 C T 14: 65,232,513 (GRCm39) Q191* probably null Het
Ktn1 A G 14: 47,952,097 (GRCm39) E979G probably benign Het
Lama3 G A 18: 12,605,238 (GRCm39) probably null Het
Lrtm2 C T 6: 119,294,392 (GRCm39) M246I probably damaging Het
Mdm1 T C 10: 117,982,590 (GRCm39) V75A probably benign Het
Mia3 T C 1: 183,140,220 (GRCm39) E165G probably benign Het
Mrps21 T C 3: 95,770,128 (GRCm39) E67G probably damaging Het
Mybpc1 A C 10: 88,362,155 (GRCm39) I995S probably damaging Het
Mylk2 T G 2: 152,753,346 (GRCm39) probably benign Het
Myo16 G A 8: 10,322,537 (GRCm39) C11Y probably damaging Het
Nudt18 A C 14: 70,816,798 (GRCm39) D134A probably benign Het
Obox1 G T 7: 15,289,491 (GRCm39) K93N probably benign Het
Or12d2 T A 17: 37,624,816 (GRCm39) H153L possibly damaging Het
Or2r3 A T 6: 42,448,434 (GRCm39) M226K probably benign Het
Or56a4 T C 7: 104,806,289 (GRCm39) Y200C probably damaging Het
Or5ar1 A T 2: 85,672,096 (GRCm39) V13D probably benign Het
Pkd2l1 T C 19: 44,145,668 (GRCm39) H185R probably benign Het
Ptpn18 A G 1: 34,501,831 (GRCm39) T48A probably benign Het
Ptprd A T 4: 75,978,058 (GRCm39) Y583* probably null Het
Ptprk G A 10: 28,450,815 (GRCm39) G992D probably damaging Het
Setdb2 A G 14: 59,656,700 (GRCm39) F206L probably damaging Het
Slain1 A G 14: 103,923,150 (GRCm39) D247G probably damaging Het
Slc10a2 A T 8: 5,139,086 (GRCm39) V286E possibly damaging Het
Slc44a2 C T 9: 21,256,819 (GRCm39) T367I probably damaging Het
Slco4a1 T C 2: 180,115,919 (GRCm39) V685A probably benign Het
Srp54c T A 12: 55,302,347 (GRCm39) Y333N probably damaging Het
Srrm2 T C 17: 24,039,091 (GRCm39) S1912P unknown Het
St7l A G 3: 104,796,645 (GRCm39) T253A possibly damaging Het
Styxl2 T C 1: 165,928,584 (GRCm39) K343E probably benign Het
Sun3 T G 11: 8,981,445 (GRCm39) Y53S possibly damaging Het
Tktl2 A G 8: 66,965,561 (GRCm39) N373S possibly damaging Het
Tmco3 T A 8: 13,370,781 (GRCm39) S648R probably damaging Het
Tmem178 T A 17: 81,252,185 (GRCm39) V23D probably damaging Het
Tmem229a C A 6: 24,955,689 (GRCm39) G22W probably damaging Het
Top3a C T 11: 60,644,744 (GRCm39) S320N possibly damaging Het
Treml1 C A 17: 48,673,719 (GRCm39) D243E probably damaging Het
Trim42 C T 9: 97,244,998 (GRCm39) V601M probably damaging Het
Ttn A G 2: 76,573,350 (GRCm39) S25848P probably damaging Het
Vmn1r86 A T 7: 12,835,983 (GRCm39) F298I possibly damaging Het
Vmn2r96 T C 17: 18,793,662 (GRCm39) F2S probably benign Het
Xpc A G 6: 91,481,631 (GRCm39) L230P probably damaging Het
Xpo4 A G 14: 57,867,680 (GRCm39) V189A probably benign Het
Zfhx3 A G 8: 109,519,468 (GRCm39) T197A probably damaging Het
Zswim1 A G 2: 164,667,710 (GRCm39) K321E probably 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
R4864:Atp5f1a UTSW 18 77,869,015 (GRCm39) missense possibly damaging 0.84
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
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'- CAGACAGACTGGGTAATGACTC -3'
(R):5'- TTAGGCAGAGGCTGTTCCAAG -3'

Sequencing Primer
(F):5'- CAGACTGGGTAATGACTCAAAATCTG -3'
(R):5'- GCAGAGGCTGTTCCAAGATTATC -3'
Posted On 2019-10-07