Incidental Mutation 'IGL02547:Atp5po'
ID 297866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5po
Ensembl Gene ENSMUSG00000022956
Gene Name ATP synthase peripheral stalk subunit OSCP
Synonyms D12Wsu28e, Atp5o
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02547
Quality Score
Status
Chromosome 16
Chromosomal Location 91722111-91728518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91725849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 48 (Y48N)
Ref Sequence ENSEMBL: ENSMUSP00000156308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023677] [ENSMUST00000139277] [ENSMUST00000154661] [ENSMUST00000155452] [ENSMUST00000159295]
AlphaFold Q9DB20
Predicted Effect probably damaging
Transcript: ENSMUST00000023677
AA Change: Y46N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023677
Gene: ENSMUSG00000022956
AA Change: Y46N

DomainStartEndE-ValueType
Pfam:OSCP 37 209 2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132049
Predicted Effect probably benign
Transcript: ENSMUST00000139277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150642
Predicted Effect probably damaging
Transcript: ENSMUST00000154661
AA Change: Y48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000155452
AA Change: Y43N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118216
Gene: ENSMUSG00000022956
AA Change: Y43N

DomainStartEndE-ValueType
Pfam:OSCP 34 67 1e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159295
SMART Domains Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933

DomainStartEndE-ValueType
Pfam:OSCP 1 89 1.1e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,479 (GRCm39) L1631H probably damaging Het
Atf7ip T A 6: 136,580,274 (GRCm39) probably benign Het
Birc6 T G 17: 74,886,640 (GRCm39) M656R probably benign Het
Camkk1 A G 11: 72,929,259 (GRCm39) R455G probably benign Het
Casr A T 16: 36,336,036 (GRCm39) M91K probably benign Het
Ccdc28a A T 10: 18,089,894 (GRCm39) V124D possibly damaging Het
Ccnh T C 13: 85,350,623 (GRCm39) probably benign Het
Cdc37 G T 9: 21,051,262 (GRCm39) probably benign Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cstdc3 A T 16: 36,132,888 (GRCm39) probably benign Het
Cyp4f15 A G 17: 32,919,229 (GRCm39) R351G probably benign Het
Dclk3 T C 9: 111,298,091 (GRCm39) I545T probably damaging Het
Dock4 A G 12: 40,787,478 (GRCm39) M798V probably benign Het
Gas7 A T 11: 67,556,261 (GRCm39) Q200L probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm39) probably null Het
Idh3a T A 9: 54,499,679 (GRCm39) V31D probably benign Het
Il3ra A T 14: 14,351,970 (GRCm38) T247S probably benign Het
Itgb7 A G 15: 102,126,945 (GRCm39) C497R probably damaging Het
Itm2c T C 1: 85,834,182 (GRCm39) Y166H probably damaging Het
Mphosph8 A G 14: 56,909,941 (GRCm39) D98G probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Muc15 A G 2: 110,561,650 (GRCm39) R29G probably damaging Het
Neb T A 2: 52,078,742 (GRCm39) T142S probably damaging Het
Nipbl G A 15: 8,381,082 (GRCm39) T570I probably benign Het
Nr5a2 T A 1: 136,868,665 (GRCm39) M196L probably benign Het
Nrp1 C A 8: 129,219,512 (GRCm39) F643L probably benign Het
Or52ad1 A G 7: 102,995,451 (GRCm39) F228S probably damaging Het
Or52z15 T C 7: 103,331,973 (GRCm39) I16T probably benign Het
Or5a3 A T 19: 12,399,675 (GRCm39) M1L probably benign Het
Or8h8 A G 2: 86,753,372 (GRCm39) F168S probably damaging Het
Osbpl9 C T 4: 108,925,680 (GRCm39) W446* probably null Het
Pced1a T C 2: 130,261,627 (GRCm39) D342G possibly damaging Het
Pira13 T C 7: 3,824,660 (GRCm39) D573G probably damaging Het
Prkcd C A 14: 30,321,426 (GRCm39) W555L probably damaging Het
Prpf31 T C 7: 3,633,898 (GRCm39) S78P probably benign Het
Psg27 T C 7: 18,294,553 (GRCm39) T285A probably benign Het
Retreg3 A T 11: 100,997,204 (GRCm39) L92* probably null Het
Rmdn1 A G 4: 19,605,501 (GRCm39) K282E possibly damaging Het
Septin8 G T 11: 53,428,092 (GRCm39) R302L probably damaging Het
Serpina3a A G 12: 104,082,802 (GRCm39) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,936,116 (GRCm39) L323Q probably damaging Het
Spats1 A T 17: 45,785,743 (GRCm39) probably benign Het
Tcerg1l C T 7: 137,850,100 (GRCm39) probably null Het
Ttn A G 2: 76,559,730 (GRCm39) V21230A probably damaging Het
Ubxn11 A C 4: 133,836,895 (GRCm39) D41A possibly damaging Het
Vps13c T G 9: 67,815,301 (GRCm39) I979S possibly damaging Het
Zc3h6 T A 2: 128,857,531 (GRCm39) H683Q probably benign Het
Zfp1007 C T 5: 109,826,628 (GRCm39) probably null Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp629 T C 7: 127,210,846 (GRCm39) probably null Het
Other mutations in Atp5po
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02158:Atp5po APN 16 91,727,289 (GRCm39) missense probably damaging 1.00
IGL02626:Atp5po APN 16 91,483,201 (GRCm39) missense probably damaging 1.00
IGL02632:Atp5po APN 16 91,725,830 (GRCm39) missense probably benign 0.15
R0644:Atp5po UTSW 16 91,723,372 (GRCm39) missense probably damaging 0.99
R3410:Atp5po UTSW 16 91,725,794 (GRCm39) missense probably damaging 1.00
R3411:Atp5po UTSW 16 91,725,794 (GRCm39) missense probably damaging 1.00
R5543:Atp5po UTSW 16 91,723,418 (GRCm39) missense probably benign 0.00
R5550:Atp5po UTSW 16 91,727,292 (GRCm39) missense probably damaging 0.99
R7257:Atp5po UTSW 16 91,723,755 (GRCm39) missense probably damaging 1.00
R7781:Atp5po UTSW 16 91,723,417 (GRCm39) missense possibly damaging 0.61
R9313:Atp5po UTSW 16 91,723,805 (GRCm39) frame shift probably null
R9313:Atp5po UTSW 16 91,723,804 (GRCm39) frame shift probably null
Posted On 2015-04-16