Incidental Mutation 'IGL02250:Acp7'
ID286350
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 #IGL02250
Quality Score
Status
Chromosome7
Chromosomal Location28607634-28631332 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 28629710 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040112] [ENSMUST00000159095] [ENSMUST00000159418] [ENSMUST00000159560] [ENSMUST00000162880]
Predicted Effect unknown
Transcript: ENSMUST00000040112
AA Change: D15V
SMART Domains Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469
AA Change: D15V

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: ENSMUST00000159095
Predicted Effect probably benign
Transcript: ENSMUST00000159418
Predicted Effect probably benign
Transcript: ENSMUST00000159560
Predicted Effect unknown
Transcript: ENSMUST00000162880
AA Change: D15V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208431
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr2 A C 5: 97,977,595 probably null Het
Areg T A 5: 91,141,108 I91K possibly damaging Het
Arf1 G A 11: 59,213,167 R79C probably benign Het
Bbs2 A T 8: 94,092,426 I105N probably benign Het
Ccdc158 A T 5: 92,608,478 I1090N probably damaging Het
Ccdc90b T A 7: 92,574,615 probably benign Het
Cep57 A T 9: 13,810,643 F221I probably damaging Het
Ckap5 C T 2: 91,548,901 A62V probably damaging Het
Cntn5 G A 9: 10,145,331 R125C probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cxxc1 T A 18: 74,219,169 D321E probably benign Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dnm1l A G 16: 16,321,686 probably benign Het
Eif2d T A 1: 131,160,429 S184T probably benign Het
Emcn T A 3: 137,418,986 probably benign Het
Fry A T 5: 150,403,434 probably benign Het
Gas2 T A 7: 51,888,038 M37K probably damaging Het
Habp2 A G 19: 56,308,929 S100G probably benign Het
Kcnj5 A G 9: 32,317,756 C49R probably damaging Het
Lhx2 T A 2: 38,354,833 D236E probably benign Het
Megf8 T A 7: 25,342,575 S1273T probably benign Het
Mrps2 T C 2: 28,469,545 I138T possibly damaging Het
Mta1 T C 12: 113,126,798 S175P possibly damaging Het
Npat T A 9: 53,548,951 Y66* probably null Het
Nup160 A G 2: 90,708,870 R798G probably damaging Het
Olfr668 T C 7: 104,925,015 I250V probably damaging Het
Olfr921 C A 9: 38,775,554 Q100K probably damaging Het
Plxnc1 C T 10: 94,871,031 G548E probably benign Het
Radil A G 5: 142,543,774 S56P probably damaging Het
Rpgrip1l A T 8: 91,232,861 M1137K probably benign Het
Serpina1c T G 12: 103,897,228 M238L probably benign Het
Tbc1d14 A G 5: 36,571,519 S168P probably damaging Het
Tmem209 A G 6: 30,487,388 S498P probably damaging Het
Utrn A G 10: 12,436,391 Y607H probably damaging Het
Vipr1 A G 9: 121,665,189 I279V probably benign Het
Vmn2r67 T G 7: 85,155,800 N35H probably benign Het
Xirp2 C T 2: 67,514,012 T2199I probably benign Het
Zfp423 A G 8: 87,783,255 S86P probably damaging Het
Zfp831 A G 2: 174,648,201 K1254E possibly damaging Het
Zfp873 T A 10: 82,058,418 M1K probably null 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
IGL02255:Acp7 APN 7 28614723 missense probably damaging 1.00
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