Incidental Mutation 'IGL01739:Acp4'
ID 105819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acp4
Ensembl Gene ENSMUSG00000012777
Gene Name acid phosphatase 4
Synonyms Acpt, EG546967
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01739
Quality Score
Status
Chromosome 7
Chromosomal Location 43901572-43906802 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 43906210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 88 (Y88*)
Ref Sequence ENSEMBL: ENSMUSP00000112922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012921] [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107945] [ENSMUST00000107948] [ENSMUST00000118216] [ENSMUST00000124863] [ENSMUST00000107949] [ENSMUST00000188382] [ENSMUST00000107950] [ENSMUST00000188111]
AlphaFold D3YTS9
Predicted Effect probably null
Transcript: ENSMUST00000012921
AA Change: Y88*
SMART Domains Protein: ENSMUSP00000012921
Gene: ENSMUSG00000012777
AA Change: Y88*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:His_Phos_2 30 338 3.2e-53 PFAM
transmembrane domain 391 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055858
SMART Domains Protein: ENSMUSP00000103583
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071296
SMART Domains Protein: ENSMUSP00000071265
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084937
SMART Domains Protein: ENSMUSP00000095894
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107945
AA Change: Y88*
SMART Domains Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777
AA Change: Y88*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:His_Phos_2 30 324 2.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107948
SMART Domains Protein: ENSMUSP00000103581
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118216
AA Change: Y88*
SMART Domains Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777
AA Change: Y88*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:His_Phos_2 30 338 3.2e-53 PFAM
transmembrane domain 392 414 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137742
Predicted Effect probably benign
Transcript: ENSMUST00000107949
SMART Domains Protein: ENSMUSP00000103582
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188382
SMART Domains Protein: ENSMUSP00000140200
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107950
SMART Domains Protein: ENSMUSP00000103584
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188111
SMART Domains Protein: ENSMUSP00000139694
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,676,994 (GRCm39) D205G probably damaging Het
Arhgap31 T C 16: 38,423,793 (GRCm39) I758V probably benign Het
Atg9b A G 5: 24,591,513 (GRCm39) probably null Het
Auts2 T C 5: 131,469,056 (GRCm39) T754A probably benign Het
Birc6 A G 17: 74,966,216 (GRCm39) M4048V probably benign Het
Cacna1s T C 1: 136,024,870 (GRCm39) probably null Het
Cmpk1 C T 4: 114,822,121 (GRCm39) A143T probably benign Het
Cstf2t C A 19: 31,060,536 (GRCm39) P24Q probably damaging Het
Cwc22 A G 2: 77,757,640 (GRCm39) S163P probably damaging Het
Dnaaf11 T A 15: 66,321,326 (GRCm39) M272L probably benign Het
Faf1 T A 4: 109,534,278 (GRCm39) probably benign Het
Focad T A 4: 88,289,043 (GRCm39) I1279N unknown Het
Gp5 T C 16: 30,127,459 (GRCm39) D405G possibly damaging Het
Guf1 C A 5: 69,718,501 (GRCm39) N213K probably damaging Het
Hacd4 T C 4: 88,341,285 (GRCm39) T145A probably damaging Het
Itga11 T C 9: 62,681,399 (GRCm39) M1005T probably benign Het
Mast4 T A 13: 102,910,781 (GRCm39) T621S probably damaging Het
Mme T C 3: 63,247,534 (GRCm39) M273T possibly damaging Het
Mos A G 4: 3,871,816 (GRCm39) probably benign Het
Msln C T 17: 25,969,004 (GRCm39) probably null Het
Mtg1 A T 7: 139,730,149 (GRCm39) Q315L probably benign Het
Myh1 A G 11: 67,105,354 (GRCm39) E1048G probably damaging Het
Ndufa9 C T 6: 126,821,777 (GRCm39) G66D probably damaging Het
Nr1i2 T C 16: 38,086,333 (GRCm39) K44R probably benign Het
Nup155 T A 15: 8,165,272 (GRCm39) M636K probably benign Het
Or12d12 A T 17: 37,610,673 (GRCm39) F213L probably benign Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Plekha6 T C 1: 133,187,869 (GRCm39) V130A probably benign Het
Prag1 A G 8: 36,569,834 (GRCm39) N139S probably benign Het
Rbpj-ps3 T C 6: 46,507,694 (GRCm39) T19A probably benign Het
Scai A G 2: 38,984,803 (GRCm39) probably benign Het
Slc12a7 A G 13: 73,947,733 (GRCm39) T617A probably benign Het
Slc15a2 T C 16: 36,576,592 (GRCm39) M481V probably benign Het
Snx5 A G 2: 144,112,325 (GRCm39) L8P probably benign Het
Spg11 C T 2: 121,945,152 (GRCm39) A123T probably damaging Het
Supt6 T A 11: 78,113,013 (GRCm39) I977F probably damaging Het
Tjp3 T C 10: 81,114,490 (GRCm39) D442G probably benign Het
Ttc21b A T 2: 66,068,200 (GRCm39) N275K probably benign Het
Vmn2r50 A G 7: 9,771,364 (GRCm39) F779S probably damaging Het
Xirp2 A T 2: 67,345,482 (GRCm39) R2574S probably benign Het
Zbp1 T C 2: 173,054,038 (GRCm39) E161G possibly damaging Het
Other mutations in Acp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Acp4 APN 7 43,902,875 (GRCm39) missense possibly damaging 0.56
IGL01067:Acp4 APN 7 43,902,876 (GRCm39) missense probably benign 0.08
IGL02013:Acp4 APN 7 43,904,505 (GRCm39) missense probably benign 0.13
IGL02225:Acp4 APN 7 43,906,165 (GRCm39) splice site probably null
IGL02648:Acp4 APN 7 43,904,414 (GRCm39) unclassified probably benign
R0764:Acp4 UTSW 7 43,901,738 (GRCm39) unclassified probably benign
R1328:Acp4 UTSW 7 43,906,516 (GRCm39) splice site probably null
R1411:Acp4 UTSW 7 43,906,267 (GRCm39) unclassified probably benign
R1754:Acp4 UTSW 7 43,904,428 (GRCm39) missense probably benign 0.09
R2163:Acp4 UTSW 7 43,905,400 (GRCm39) missense probably damaging 1.00
R2193:Acp4 UTSW 7 43,902,993 (GRCm39) missense probably benign 0.01
R5120:Acp4 UTSW 7 43,906,395 (GRCm39) missense probably damaging 1.00
R7890:Acp4 UTSW 7 43,903,528 (GRCm39) missense probably damaging 1.00
R8557:Acp4 UTSW 7 43,905,272 (GRCm39) critical splice donor site probably null
R8915:Acp4 UTSW 7 43,903,751 (GRCm39) missense possibly damaging 0.64
R8959:Acp4 UTSW 7 43,906,399 (GRCm39) missense possibly damaging 0.95
R9685:Acp4 UTSW 7 43,906,733 (GRCm39) unclassified probably benign
Posted On 2014-01-21