Incidental Mutation 'IGL01585:Atp5a1'
ID93337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5a1
Ensembl Gene ENSMUSG00000025428
Gene NameATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1
SynonymsAtpm, Mom2, D18Ertd206e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01585
Quality Score
Status
Chromosome18
Chromosomal Location77773729-77782869 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77781058 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 417 (V417A)
Ref Sequence ENSEMBL: ENSMUSP00000026495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026495] [ENSMUST00000114748] [ENSMUST00000135678]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026495
AA Change: V417A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: V417A

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: V367A

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: V367A

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T G 7: 131,244,758 V637G probably damaging Het
Abca12 T C 1: 71,319,886 D587G probably benign Het
Adcy1 T A 11: 7,167,143 N1003K probably damaging Het
Alpk1 T C 3: 127,679,813 D847G probably benign Het
Avp A C 2: 130,580,709 S159A probably benign Het
Brca2 C A 5: 150,539,516 A915D possibly damaging Het
Cdc42bpg G A 19: 6,320,432 R1185H possibly damaging Het
Clrn2 A G 5: 45,460,158 I124V probably benign Het
Cntn4 A T 6: 106,618,328 K469* probably null Het
Cxcl1 T A 5: 90,891,724 N70K probably damaging Het
Dbf4 A G 5: 8,408,492 probably null Het
Fbn1 A T 2: 125,360,110 V1281E probably damaging Het
Fgfr3 A T 5: 33,733,961 Q523L probably damaging Het
Golga5 A G 12: 102,479,695 K403R probably benign Het
Gpr22 A G 12: 31,709,337 I262T probably benign Het
Gstm3 G T 3: 107,966,158 Q166K probably benign Het
Ilf2 T A 3: 90,484,542 N183K probably damaging Het
Ip6k2 T A 9: 108,796,313 L40Q probably damaging Het
Itga8 A T 2: 12,160,312 probably benign Het
Lbr T A 1: 181,825,643 R70* probably null Het
Lilra6 T C 7: 3,914,499 T166A probably benign Het
Map3k4 T C 17: 12,248,959 K1063E probably damaging Het
Msi1 T C 5: 115,430,890 probably null Het
Pam A G 1: 97,864,472 V408A probably damaging Het
Plxna1 A G 6: 89,329,556 probably null Het
Ppp1r36 A T 12: 76,439,117 probably null Het
Prrt4 A G 6: 29,177,690 S27P probably benign Het
Psmg1 G A 16: 95,988,021 T112I possibly damaging Het
Rfx7 T G 9: 72,617,061 I511S probably benign Het
Ros1 G A 10: 52,155,102 T481M probably damaging Het
Scfd1 A G 12: 51,415,553 D397G probably damaging Het
Sel1l3 A G 5: 53,154,236 Y636H probably damaging Het
Sgms1 T G 19: 32,142,845 R220S probably damaging Het
Slc37a3 A T 6: 39,337,262 I472N probably damaging Het
Syne2 A G 12: 75,949,060 probably null Het
Tert T C 13: 73,634,344 V579A probably benign Het
Ush2a A T 1: 188,430,727 H1002L probably damaging Het
Other mutations in Atp5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Atp5a1 APN 18 77777533 missense probably damaging 1.00
IGL01536:Atp5a1 APN 18 77780312 intron probably benign
IGL02973:Atp5a1 APN 18 77780149 missense probably damaging 1.00
R0268:Atp5a1 UTSW 18 77780195 missense probably damaging 0.96
R0344:Atp5a1 UTSW 18 77780195 missense probably damaging 0.96
R0399:Atp5a1 UTSW 18 77781836 nonsense probably null
R0464:Atp5a1 UTSW 18 77779922 missense probably benign 0.04
R1471:Atp5a1 UTSW 18 77781269 missense probably damaging 1.00
R1476:Atp5a1 UTSW 18 77781925 missense probably benign 0.00
R1630:Atp5a1 UTSW 18 77777567 missense possibly damaging 0.94
R2102:Atp5a1 UTSW 18 77782317 missense probably damaging 0.99
R4424:Atp5a1 UTSW 18 77780066 intron probably benign
R4746:Atp5a1 UTSW 18 77778742 missense probably benign 0.00
R4864:Atp5a1 UTSW 18 77781315 missense possibly damaging 0.84
R5191:Atp5a1 UTSW 18 77780229 missense probably damaging 1.00
R6217:Atp5a1 UTSW 18 77781356 missense probably benign
R6262:Atp5a1 UTSW 18 77781212 missense probably damaging 1.00
R6263:Atp5a1 UTSW 18 77779230 splice site probably null
R6284:Atp5a1 UTSW 18 77778468 missense probably benign 0.30
R6873:Atp5a1 UTSW 18 77775840 nonsense probably null
R7442:Atp5a1 UTSW 18 77779120 missense probably benign 0.04
R7661:Atp5a1 UTSW 18 77774102 missense possibly damaging 0.70
R7696:Atp5a1 UTSW 18 77780986 missense probably damaging 1.00
R7846:Atp5a1 UTSW 18 77781315 missense possibly damaging 0.84
R7929:Atp5a1 UTSW 18 77781315 missense possibly damaging 0.84
X0021:Atp5a1 UTSW 18 77781273 missense probably damaging 1.00
Posted On2013-12-09