Incidental Mutation 'R0268:Atp5f1a'
ID 35117
Institutional Source Beutler Lab
Gene Symbol Atp5f1a
Ensembl Gene ENSMUSG00000025428
Gene Name ATP synthase F1 subunit alpha
Synonyms Atp5a1, Atpm, D18Ertd206e, Mom2
MMRRC Submission 038494-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0268 (G1)
Quality Score 176
Status Validated
Chromosome 18
Chromosomal Location 77861468-77870569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 77867895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 356 (N356K)
Ref Sequence ENSEMBL: ENSMUSP00000026495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026495] [ENSMUST00000114748] [ENSMUST00000135678]
AlphaFold Q03265
Predicted Effect probably damaging
Transcript: ENSMUST00000026495
AA Change: N356K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: N356K

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: N306K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: N306K

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 0.2464 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 95.9%
  • 20x: 93.0%
Validation Efficiency 98% (93/95)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,274,027 (GRCm39) noncoding transcript Het
Aadacl4 A T 4: 144,349,565 (GRCm39) H274L probably benign Het
Aldh1a7 T A 19: 20,686,866 (GRCm39) probably null Het
Ap3m1 A C 14: 21,087,170 (GRCm39) probably benign Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Avpr1a T C 10: 122,285,614 (GRCm39) V302A probably damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Cd209e T C 8: 3,899,125 (GRCm39) I196V probably benign Het
Cdc42bpa G T 1: 179,983,347 (GRCm39) probably benign Het
Cdcp3 A G 7: 130,839,905 (GRCm39) D609G probably damaging Het
Clec16a T A 16: 10,462,692 (GRCm39) L670* probably null Het
Cmtm2b A G 8: 105,049,066 (GRCm39) E27G probably damaging Het
Col4a1 T A 8: 11,317,588 (GRCm39) probably benign Het
Cyp26b1 A T 6: 84,551,554 (GRCm39) F221I probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dip2c G A 13: 9,687,186 (GRCm39) R1270H probably damaging Het
Dlg1 T C 16: 31,503,011 (GRCm39) C73R probably benign Het
Dnah8 A G 17: 30,988,681 (GRCm39) D3217G probably damaging Het
Dtx1 T C 5: 120,819,356 (GRCm39) E614G probably damaging Het
Dut C A 2: 125,099,011 (GRCm39) A166E probably damaging Het
Ebf1 C A 11: 44,534,240 (GRCm39) D166E probably damaging Het
Egln2 A T 7: 26,864,672 (GRCm39) D84E possibly damaging Het
Exosc7 T A 9: 122,948,025 (GRCm39) S65T probably benign Het
Fam83e G A 7: 45,376,334 (GRCm39) R349Q probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fras1 A G 5: 96,884,868 (GRCm39) N2582S probably damaging Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gfral A T 9: 76,104,383 (GRCm39) C210S probably damaging Het
Gls GGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTG 1: 52,271,853 (GRCm39) probably benign Het
Hcn4 A C 9: 58,767,445 (GRCm39) E1002A unknown Het
Hcrtr2 A G 9: 76,135,470 (GRCm39) V449A probably benign Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 C A 12: 51,815,890 (GRCm39) S1394I probably damaging Het
Hecw2 A G 1: 53,965,857 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itsn2 G A 12: 4,750,333 (GRCm39) R1199Q probably benign Het
Kcnj3 C A 2: 55,484,971 (GRCm39) Y356* probably null Het
Klb T A 5: 65,506,180 (GRCm39) D142E probably benign Het
Klhl35 T A 7: 99,120,958 (GRCm39) S409T probably benign Het
Krt16 T A 11: 100,137,351 (GRCm39) probably benign Het
Krt82 C A 15: 101,450,148 (GRCm39) R516L probably benign Het
Lce3a A T 3: 92,833,038 (GRCm39) C21S unknown Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Map2 A T 1: 66,419,881 (GRCm39) K71* probably null Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Mycbp2 T A 14: 103,551,761 (GRCm39) R157* probably null Het
Nat10 C A 2: 103,558,262 (GRCm39) probably benign Het
Obscn G A 11: 58,958,098 (GRCm39) T3810M possibly damaging Het
Or13a19 G A 7: 139,903,068 (GRCm39) S152N possibly damaging Het
Or1x6 T A 11: 50,939,768 (GRCm39) M278K probably damaging Het
Or5d35 A T 2: 87,855,812 (GRCm39) I249F probably damaging Het
Or5g29 A G 2: 85,421,645 (GRCm39) T254A possibly damaging Het
Or6c209 A T 10: 129,483,045 (GRCm39) D16V possibly damaging Het
Or7a38 C T 10: 78,753,439 (GRCm39) T255I probably damaging Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgm2 T A 5: 64,263,151 (GRCm39) V266E probably damaging Het
Phip G A 9: 82,753,341 (GRCm39) T1801I probably damaging Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Ppp1r12a T A 10: 108,109,242 (GRCm39) probably benign Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Ptprq A T 10: 107,541,409 (GRCm39) D372E probably benign Het
Ptprr G A 10: 116,088,868 (GRCm39) V340I possibly damaging Het
Qki A G 17: 10,428,575 (GRCm39) probably benign Het
Qpct T A 17: 79,385,081 (GRCm39) D240E probably benign Het
Ren1 A G 1: 133,283,349 (GRCm39) T162A possibly damaging Het
Rif1 T C 2: 51,980,298 (GRCm39) probably null Het
Sart3 A G 5: 113,890,460 (GRCm39) V461A probably damaging Het
Saxo4 A G 19: 10,454,449 (GRCm39) V329A possibly damaging Het
Scgb1b24 G A 7: 33,443,278 (GRCm39) G19R probably null Het
Spen A T 4: 141,204,868 (GRCm39) I1253N unknown Het
Sspo C A 6: 48,442,489 (GRCm39) H1995N probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Togaram2 T C 17: 72,004,993 (GRCm39) probably null Het
Trim65 T A 11: 116,017,470 (GRCm39) probably benign Het
Trpm3 T A 19: 22,874,885 (GRCm39) probably null Het
Ubxn7 T C 16: 32,178,864 (GRCm39) I87T probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r102 A G 17: 19,898,112 (GRCm39) T376A probably benign Het
Vmn2r105 A T 17: 20,428,938 (GRCm39) C713S probably benign Het
Zbtb45 C T 7: 12,742,254 (GRCm39) M1I probably null Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign Het
Zfp932 T C 5: 110,156,929 (GRCm39) I176T probably benign Het
Zswim1 G A 2: 164,668,046 (GRCm39) E433K 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
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
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'- CTCAGATGCCATGAAGTACACCATCG -3'
(R):5'- TCATGCTTGTTAGTCTCAACTAGTGCC -3'

Sequencing Primer
(F):5'- TCTATGACGATCTATCCAAGCAGG -3'
(R):5'- GTCTCAACTAGTGCCTTAGAATAATC -3'
Posted On 2013-05-09