Incidental Mutation 'IGL00929:Acp1'
ID28738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acp1
Ensembl Gene ENSMUSG00000044573
Gene Nameacid phosphatase 1, soluble
SynonymsLMW-PTP, 4632432E04Rik, Acp-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL00929
Quality Score
Status
Chromosome12
Chromosomal Location30893326-30911589 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 30904900 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 67 (H67Q)
Ref Sequence ENSEMBL: ENSMUSP00000151833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062740] [ENSMUST00000074038] [ENSMUST00000219697]
Predicted Effect probably benign
Transcript: ENSMUST00000062740
AA Change: H67Q

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106509
Gene: ENSMUSG00000044573
AA Change: H67Q

DomainStartEndE-ValueType
LMWPc 7 156 1.58e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074038
SMART Domains Protein: ENSMUSP00000073686
Gene: ENSMUSG00000044573

DomainStartEndE-ValueType
LMWPc 7 156 5.62e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218696
Predicted Effect probably damaging
Transcript: ENSMUST00000219697
AA Change: H67Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222791
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a null allele show an increased mean serum IL-6 response to LPS challenge. Male homozygotes are smaller than controls whereas female homozygotes show an increased mean skin fibroblast proliferation rate. Males homozygous for a different null allele show decreased response of heart to induced stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13b A G 11: 77,472,752 S247P probably damaging Het
Aqp4 C T 18: 15,393,599 G275E probably benign Het
Arhgef15 A T 11: 68,954,102 L223Q probably damaging Het
Asb13 A G 13: 3,649,427 Y209C probably damaging Het
Cdk18 A G 1: 132,118,519 probably null Het
Cntnap5a G A 1: 116,060,274 probably null Het
Cops6 A G 5: 138,161,386 M1V probably null Het
Dab2ip A T 2: 35,708,877 M137L possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Lemd1 A G 1: 132,256,709 D73G probably benign Het
Lpin1 G A 12: 16,573,699 S228L probably benign Het
Mtmr9 A G 14: 63,543,497 L48P probably damaging Het
Ncoa3 T A 2: 166,051,609 probably null Het
Ndc1 T A 4: 107,389,497 N372K probably benign Het
Ndufa2 A G 18: 36,744,175 probably benign Het
Nmt1 A T 11: 103,060,076 probably null Het
Olfr593 A T 7: 103,212,685 H264L probably damaging Het
Pcdhgb6 T C 18: 37,743,705 Y489H probably damaging Het
Rttn A T 18: 89,028,935 K907M probably damaging Het
Soga3 C A 10: 29,148,292 N401K probably damaging Het
Sos1 T C 17: 80,408,596 Y979C probably damaging Het
Spag6l C T 16: 16,767,013 A424T possibly damaging Het
Stt3b A T 9: 115,266,165 I266N probably damaging Het
Tet3 A G 6: 83,368,655 L1600P probably benign Het
Tiam1 T A 16: 89,794,739 I1358F probably damaging Het
Usp37 G T 1: 74,490,154 T122N probably benign Het
Vit T C 17: 78,579,401 S153P probably damaging Het
Other mutations in Acp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Acp1 APN 12 30897793 missense probably damaging 1.00
IGL01982:Acp1 APN 12 30911492 missense possibly damaging 0.77
IGL03012:Acp1 APN 12 30895949 missense probably benign 0.08
R0918:Acp1 UTSW 12 30905127 nonsense probably null
R1433:Acp1 UTSW 12 30895935 missense possibly damaging 0.75
R1797:Acp1 UTSW 12 30896114 critical splice donor site probably null
R1854:Acp1 UTSW 12 30897805 missense possibly damaging 0.68
R4843:Acp1 UTSW 12 30896145 nonsense probably null
R5225:Acp1 UTSW 12 30905079 missense probably benign 0.05
Posted On2013-04-17