Incidental Mutation 'IGL00722:Acp1'
ID 12435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acp1
Ensembl Gene ENSMUSG00000044573
Gene Name acid phosphatase 1, soluble
Synonyms Acp-1, LMW-PTP, 4632432E04Rik, Lmptp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL00722
Quality Score
Status
Chromosome 12
Chromosomal Location 30943325-30961588 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30947792 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D358
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: 127,473,862 (GRCm39) S714P probably benign Het
Atp11b T C 3: 35,874,084 (GRCm39) I491T probably damaging Het
Frg2f1 C T 4: 119,388,307 (GRCm39) R64K possibly damaging Het
Hibch T C 1: 52,940,479 (GRCm39) V216A probably damaging Het
Mttp C A 3: 137,814,776 (GRCm39) V500F possibly damaging Het
Osbpl9 T C 4: 108,929,207 (GRCm39) I397V probably damaging Het
Rpusd4 T A 9: 35,179,714 (GRCm39) V69D possibly damaging Het
Setd2 T C 9: 110,380,204 (GRCm39) S1340P possibly damaging Het
Stk17b T C 1: 53,803,299 (GRCm39) S167G probably damaging Het
Strn T C 17: 78,999,849 (GRCm39) D129G possibly damaging Het
Wdr44 T C X: 23,598,548 (GRCm39) probably benign Het
Zfp558 G T 9: 18,367,817 (GRCm39) P324T probably damaging Het
Other mutations in Acp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Acp1 APN 12 30,954,899 (GRCm39) missense probably damaging 1.00
IGL01982:Acp1 APN 12 30,961,491 (GRCm39) missense possibly damaging 0.77
IGL03012:Acp1 APN 12 30,945,948 (GRCm39) missense probably benign 0.08
R0918:Acp1 UTSW 12 30,955,126 (GRCm39) nonsense probably null
R1433:Acp1 UTSW 12 30,945,934 (GRCm39) missense possibly damaging 0.75
R1797:Acp1 UTSW 12 30,946,113 (GRCm39) critical splice donor site probably null
R1854:Acp1 UTSW 12 30,947,804 (GRCm39) missense possibly damaging 0.68
R4843:Acp1 UTSW 12 30,946,144 (GRCm39) nonsense probably null
R5225:Acp1 UTSW 12 30,955,078 (GRCm39) missense probably benign 0.05
Posted On 2012-12-06