Incidental Mutation 'IGL01587:Acyp2'
ID93360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acyp2
Ensembl Gene ENSMUSG00000060923
Gene Nameacylphosphatase 2, muscle type
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL01587
Quality Score
Status
Chromosome11
Chromosomal Location30505991-30649587 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 30506362 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 95 (S95F)
Ref Sequence ENSEMBL: ENSMUSP00000074195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074613]
Predicted Effect probably benign
Transcript: ENSMUST00000074613
AA Change: S95F

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074195
Gene: ENSMUSG00000060923
AA Change: S95F

DomainStartEndE-ValueType
Pfam:Acylphosphatase 10 105 1.5e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Casr A T 16: 36,509,765 N402K probably benign Het
Col24a1 A G 3: 145,433,355 probably null Het
Eps8 A G 6: 137,514,713 F339S probably damaging Het
Gnaz T A 10: 74,991,944 L176Q probably damaging Het
Pik3c2g T A 6: 139,754,741 Y134* probably null Het
Sall2 A G 14: 52,314,571 I387T probably damaging Het
Sh3rf1 A G 8: 61,226,058 N45D probably damaging Het
Simc1 A T 13: 54,539,704 R95S probably damaging Het
Tas1r3 C T 4: 155,861,359 V527M probably damaging Het
Tbx18 A G 9: 87,724,408 V228A probably damaging Het
Tenm4 G A 7: 96,863,502 V1319I probably benign Het
Utp20 C T 10: 88,787,535 R1044Q probably damaging Het
Other mutations in Acyp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Acyp2 APN 11 30649318 missense probably damaging 1.00
R1470:Acyp2 UTSW 11 30506452 splice site probably benign
R2419:Acyp2 UTSW 11 30632316 missense probably benign 0.20
R5389:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5393:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5423:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5425:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5426:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5460:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5462:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5464:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5560:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5561:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5602:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5826:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5901:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5902:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R5999:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R6046:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R6066:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R6107:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R6128:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R6196:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
R6198:Acyp2 UTSW 11 30506354 missense possibly damaging 0.94
Posted On2013-12-09