Incidental Mutation 'IGL02255:Acp7'
ID286558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acp7
Ensembl Gene ENSMUSG00000037469
Gene Nameacid phosphatase 7, tartrate resistant
SynonymsPapl, C330005M16Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.301) question?
Stock #IGL02255
Quality Score
Status
Chromosome7
Chromosomal Location28607634-28631332 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 28614723 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 349 (C349Y)
Ref Sequence ENSEMBL: ENSMUSP00000045437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040112] [ENSMUST00000159418] [ENSMUST00000159560]
Predicted Effect probably damaging
Transcript: ENSMUST00000040112
AA Change: C349Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469
AA Change: C349Y

DomainStartEndE-ValueType
Pfam:Pur_ac_phosph_N 90 183 2.2e-19 PFAM
Pfam:Metallophos 192 395 6.4e-27 PFAM
Pfam:Metallophos_C 420 482 4.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159418
Predicted Effect probably benign
Transcript: ENSMUST00000159560
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 C T 12: 84,042,025 L216F probably damaging Het
C330027C09Rik T A 16: 49,010,813 D541E probably damaging Het
Cdc42ep5 G A 7: 4,151,400 Q130* probably null Het
Dmxl2 A G 9: 54,393,768 I2353T probably benign Het
Dnmt3a T A 12: 3,872,886 probably benign Het
Dtx3l A G 16: 35,933,336 V300A probably benign Het
Fbxo15 G T 18: 84,964,196 probably null Het
Fbxw22 C A 9: 109,386,551 probably benign Het
Gli2 A T 1: 118,844,349 probably null Het
Gli3 T A 13: 15,648,719 I342N probably damaging Het
Gm5431 T A 11: 48,888,958 N657I possibly damaging Het
Mybpc1 A T 10: 88,536,428 I766N probably damaging Het
Olfr1475 T A 19: 13,479,985 Y71F probably damaging Het
Pkhd1 A T 1: 20,584,101 I244N probably damaging Het
Ret G T 6: 118,175,120 probably null Het
Rrp12 A T 19: 41,872,971 F966I probably damaging Het
Rubcn T C 16: 32,827,345 I681V probably benign Het
Selenof T C 3: 144,596,827 V121A possibly damaging Het
Srl A T 16: 4,487,558 V541D probably damaging Het
Thbs2 T C 17: 14,689,785 E184G probably benign Het
Vmn2r81 G A 10: 79,247,972 W60* probably null Het
Zfp526 A G 7: 25,225,533 M406V possibly damaging Het
Other mutations in Acp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Acp7 APN 7 28614697 missense possibly damaging 0.79
IGL00808:Acp7 APN 7 28614952 missense probably damaging 1.00
IGL01085:Acp7 APN 7 28611053 missense probably damaging 1.00
IGL02123:Acp7 APN 7 28629489 missense probably benign
IGL02250:Acp7 APN 7 28629710 splice site probably benign
IGL02904:Acp7 APN 7 28608003 missense probably benign 0.11
IGL03110:Acp7 APN 7 28611039 missense probably benign 0.25
R0172:Acp7 UTSW 7 28615124 missense possibly damaging 0.95
R0360:Acp7 UTSW 7 28611128 splice site probably benign
R0364:Acp7 UTSW 7 28611128 splice site probably benign
R1616:Acp7 UTSW 7 28611078 missense probably damaging 1.00
R1973:Acp7 UTSW 7 28607989 missense probably damaging 1.00
R2077:Acp7 UTSW 7 28629482 missense probably damaging 1.00
R2125:Acp7 UTSW 7 28629549 missense probably damaging 0.99
R2256:Acp7 UTSW 7 28614413 missense probably damaging 0.98
R2257:Acp7 UTSW 7 28614413 missense probably damaging 0.98
R2696:Acp7 UTSW 7 28614576 missense probably benign 0.00
R3103:Acp7 UTSW 7 28610984 critical splice donor site probably null
R3753:Acp7 UTSW 7 28616660 missense probably damaging 1.00
R3833:Acp7 UTSW 7 28615094 missense probably benign 0.00
R4622:Acp7 UTSW 7 28614397 missense probably damaging 1.00
R4849:Acp7 UTSW 7 28615452 missense possibly damaging 0.82
R5364:Acp7 UTSW 7 28611023 missense probably benign 0.25
R5382:Acp7 UTSW 7 28615419 missense possibly damaging 0.80
R5665:Acp7 UTSW 7 28616543 missense probably benign 0.31
R5688:Acp7 UTSW 7 28616495 missense probably benign 0.20
R7278:Acp7 UTSW 7 28630882 missense unknown
R7295:Acp7 UTSW 7 28629530 missense possibly damaging 0.83
R7384:Acp7 UTSW 7 28615088 missense possibly damaging 0.89
R7875:Acp7 UTSW 7 28614727 missense probably damaging 1.00
R7958:Acp7 UTSW 7 28614727 missense probably damaging 1.00
RF006:Acp7 UTSW 7 28614779 missense possibly damaging 0.94
X0018:Acp7 UTSW 7 28607981 missense probably damaging 1.00
Posted On2015-04-16