Incidental Mutation 'IGL00722:Acp1'
ID12435
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: 0.101) question?
Stock #IGL00722
Quality Score
Status
Chromosome12
Chromosomal Location30893326-30911589 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30897793 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 82 (D82G)
Ref Sequence ENSEMBL: ENSMUSP00000106509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062740] [ENSMUST00000067087] [ENSMUST00000074038] [ENSMUST00000219697]
PDB Structure
Crystal structure of acid phosphatase 1 (Acp1) from Mus musculus [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000062740
AA Change: D82G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106509
Gene: ENSMUSG00000044573
AA Change: D82G

DomainStartEndE-ValueType
LMWPc 7 156 1.58e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067087
SMART Domains Protein: ENSMUSP00000070037
Gene: ENSMUSG00000054204

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:FAM150 32 150 5.3e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000074038
AA Change: D82G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000073686
Gene: ENSMUSG00000044573
AA Change: D82G

DomainStartEndE-ValueType
LMWPc 7 156 5.62e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218696
Predicted Effect probably benign
Transcript: ENSMUST00000219697
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 A G 3: 127,680,213 S714P probably benign Het
Atp11b T C 3: 35,819,935 I491T probably damaging Het
Frg2f1 C T 4: 119,531,110 R64K possibly damaging Het
Hibch T C 1: 52,901,320 V216A probably damaging Het
Mttp C A 3: 138,109,015 V500F possibly damaging Het
Osbpl9 T C 4: 109,072,010 I397V probably damaging Het
Rpusd4 T A 9: 35,268,418 V69D possibly damaging Het
Setd2 T C 9: 110,551,136 S1340P possibly damaging Het
Stk17b T C 1: 53,764,140 S167G probably damaging Het
Strn T C 17: 78,692,420 D129G possibly damaging Het
Wdr44 T C X: 23,732,309 probably benign Het
Zfp558 G T 9: 18,456,521 P324T probably damaging Het
Other mutations in Acp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Acp1 APN 12 30904900 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 On2012-12-06