Incidental Mutation 'R1471:Atp5f1a'
ID 164945
Institutional Source Beutler Lab
Gene Symbol Atp5f1a
Ensembl Gene ENSMUSG00000025428
Gene Name ATP synthase F1 subunit alpha
Synonyms Atp5a1, Atpm, D18Ertd206e, Mom2
MMRRC Submission 039524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1471 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 77861468-77870569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 77868969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 398 (Q398K)
Ref Sequence ENSEMBL: ENSMUSP00000110396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026495] [ENSMUST00000114748] [ENSMUST00000135678]
AlphaFold Q03265
Predicted Effect probably damaging
Transcript: ENSMUST00000026495
AA Change: Q448K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: Q448K

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 damaging
Transcript: ENSMUST00000114748
AA Change: Q398K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: Q398K

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.4%
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, 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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik C A 13: 61,001,336 (GRCm39) K130N probably damaging Het
Adam6a T A 12: 113,508,013 (GRCm39) S129T probably damaging Het
Adamts10 T A 17: 33,772,112 (GRCm39) F1087I probably damaging Het
Afp T A 5: 90,651,541 (GRCm39) N385K possibly damaging Het
Ahnak T G 19: 8,990,296 (GRCm39) probably benign Het
Akap6 A G 12: 53,188,279 (GRCm39) T1898A probably benign Het
Antxr2 C A 5: 98,123,199 (GRCm39) V283F possibly damaging Het
Asgr1 T C 11: 69,946,919 (GRCm39) V55A possibly damaging Het
Asxl3 A G 18: 22,649,411 (GRCm39) K467E probably damaging Het
Atxn2 T A 5: 121,924,437 (GRCm39) D455E probably damaging Het
B4galt6 C T 18: 20,878,410 (GRCm39) A39T possibly damaging Het
C130073F10Rik C T 4: 101,747,535 (GRCm39) E165K probably benign Het
Cabin1 A G 10: 75,530,626 (GRCm39) C1519R probably damaging Het
Casp8ap2 C T 4: 32,639,386 (GRCm39) R147* probably null Het
Ccdc88b A G 19: 6,831,391 (GRCm39) L517P probably benign Het
Cd109 G A 9: 78,561,869 (GRCm39) V220I probably damaging Het
Cd2ap T C 17: 43,131,488 (GRCm39) K369R probably benign Het
Cd300c A G 11: 114,850,614 (GRCm39) V63A probably benign Het
Cnot10 A G 9: 114,420,619 (GRCm39) V741A probably benign Het
Col18a1 G T 10: 76,932,040 (GRCm39) Q350K unknown Het
Crnkl1 T C 2: 145,774,236 (GRCm39) K76E possibly damaging Het
Cryzl2 A G 1: 157,298,291 (GRCm39) K227E probably benign Het
Cts6 G A 13: 61,344,194 (GRCm39) T286I probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Dcaf7 T A 11: 105,937,573 (GRCm39) F65L probably benign Het
Dgke A C 11: 88,946,320 (GRCm39) V160G possibly damaging Het
Dock8 C A 19: 25,178,400 (GRCm39) Q2098K possibly damaging Het
Efhb T A 17: 53,706,140 (GRCm39) D799V possibly damaging Het
Ephb2 T C 4: 136,386,262 (GRCm39) D829G probably benign Het
Exosc1 A T 19: 41,913,157 (GRCm39) S117R probably damaging Het
Fga T C 3: 82,935,925 (GRCm39) S51P probably benign Het
Fmn1 T C 2: 113,523,439 (GRCm39) F1141L possibly damaging Het
Foxm1 C T 6: 128,350,837 (GRCm39) L713F probably damaging Het
Galnt4 A G 10: 98,944,536 (GRCm39) E87G probably benign Het
Gamt T C 10: 80,096,692 (GRCm39) D15G probably benign Het
Gm15557 C A 2: 155,784,174 (GRCm39) D154E possibly damaging Het
Gnptab A G 10: 88,281,625 (GRCm39) I1211V probably benign Het
Greb1 A T 12: 16,761,775 (GRCm39) M535K probably damaging Het
Grm8 C A 6: 27,363,308 (GRCm39) A736S possibly damaging Het
Hspa14 T C 2: 3,492,645 (GRCm39) I373M probably benign Het
Ifi207 T A 1: 173,557,629 (GRCm39) T370S unknown Het
Igf1r A G 7: 67,653,585 (GRCm39) N41S probably damaging Het
Ikzf5 A T 7: 130,993,496 (GRCm39) V224D probably damaging Het
Il10 C A 1: 130,949,110 (GRCm39) Y90* probably null Het
Itga4 A G 2: 79,117,376 (GRCm39) D394G probably benign Het
Kif21a A T 15: 90,840,622 (GRCm39) S1165T probably benign Het
Krtap14 A G 16: 88,622,515 (GRCm39) S155P probably damaging Het
Loxl2 A G 14: 69,930,546 (GRCm39) N770S probably benign Het
Man2b1 A G 8: 85,813,474 (GRCm39) D222G probably damaging Het
Mcub T A 3: 129,709,464 (GRCm39) Y283F probably damaging Het
Meis3 T A 7: 15,911,496 (GRCm39) Y64* probably null Het
Mfsd6 T A 1: 52,748,716 (GRCm39) I50F probably benign Het
Micu2 T C 14: 58,182,854 (GRCm39) T165A probably damaging Het
Mtcl1 T C 17: 66,686,143 (GRCm39) E921G probably damaging Het
Muc5b A T 7: 141,396,971 (GRCm39) N215Y unknown Het
Muc6 A G 7: 141,234,176 (GRCm39) F772L possibly damaging Het
Myt1 A G 2: 181,438,904 (GRCm39) D142G probably benign Het
Nol6 C T 4: 41,120,281 (GRCm39) V479I probably benign Het
Nsun7 A G 5: 66,441,572 (GRCm39) K414E probably benign Het
Nup210l A C 3: 90,077,869 (GRCm39) I914L probably benign Het
Obox3 G A 7: 15,360,875 (GRCm39) P88L probably benign Het
Or10ag57 A G 2: 87,218,862 (GRCm39) Y271C probably damaging Het
Or4f4b T C 2: 111,314,351 (GRCm39) L192P probably damaging Het
Or8h8 C T 2: 86,752,922 (GRCm39) probably null Het
Or8w1 T C 2: 87,466,014 (GRCm39) T26A probably benign Het
Pclo T C 5: 14,730,441 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,545,688 (GRCm39) N745D probably damaging Het
Pdzrn3 T A 6: 101,128,473 (GRCm39) N731I possibly damaging Het
Pkdrej T A 15: 85,701,334 (GRCm39) Q1534L probably benign Het
Pramel28 T C 4: 143,691,523 (GRCm39) N400S probably benign Het
Rell1 T A 5: 64,093,428 (GRCm39) D109V probably damaging Het
Rplp0 C T 5: 115,701,403 (GRCm39) T285I probably damaging Het
Sanbr A T 11: 23,565,222 (GRCm39) M255K probably damaging Het
Sema3g C T 14: 30,950,002 (GRCm39) R728C probably damaging Het
Slc15a2 A G 16: 36,574,153 (GRCm39) Y536H probably damaging Het
Slc26a5 T A 5: 22,021,962 (GRCm39) Y488F probably benign Het
Slc5a4a A T 10: 76,022,362 (GRCm39) S566C probably damaging Het
Spink7 C T 18: 62,729,275 (GRCm39) E21K possibly damaging Het
Src C T 2: 157,299,107 (GRCm39) Q35* probably null Het
Srrm2 T A 17: 24,039,770 (GRCm39) V2234E probably damaging Het
Stk36 A T 1: 74,650,314 (GRCm39) Q282L probably benign Het
Tas2r118 T G 6: 23,969,170 (GRCm39) E297A probably damaging Het
Terf1 A G 1: 15,913,194 (GRCm39) Y385C probably damaging Het
Tmc3 T C 7: 83,247,498 (GRCm39) S198P probably damaging Het
Tmprss11b C T 5: 86,808,355 (GRCm39) R407H possibly damaging Het
Tspyl4 G A 10: 34,174,107 (GRCm39) E200K probably damaging Het
Ttc21a T C 9: 119,771,707 (GRCm39) Y169H probably damaging Het
Ugt2b36 C T 5: 87,239,930 (GRCm39) D152N probably damaging Het
Unk T C 11: 115,940,235 (GRCm39) I196T probably benign Het
Uroc1 T G 6: 90,321,153 (GRCm39) V243G probably damaging Het
Usp34 C A 11: 23,438,862 (GRCm39) Q3475K probably benign Het
Vmn2r117 T A 17: 23,697,447 (GRCm39) I82L probably benign Het
Vmn2r44 A T 7: 8,380,882 (GRCm39) V337E probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp362 T C 4: 128,680,993 (GRCm39) T111A probably benign Het
Zfp598 T C 17: 24,899,046 (GRCm39) V615A probably benign 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
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
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'- TTGTTCTATAAAGGCATCCGCCCTG -3'
(R):5'- CCCTGGCAGTGTTACACAGCATTTG -3'

Sequencing Primer
(F):5'- GCCATGAAGCAGGTAAGTTTTCC -3'
(R):5'- TCAACACTTCATTCAAATGGTGG -3'
Posted On 2014-03-28