Incidental Mutation 'IGL00157:Acp4'
ID 306550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acp4
Ensembl Gene ENSMUSG00000012777
Gene Name acid phosphatase 4
Synonyms EG546967, Acpt
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL00157
Quality Score
Status
Chromosome 7
Chromosomal Location 44252148-44257378 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44253451 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 331 (V331A)
Ref Sequence ENSEMBL: ENSMUSP00000103578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012921] [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107945] [ENSMUST00000107948] [ENSMUST00000107949] [ENSMUST00000107950] [ENSMUST00000118216] [ENSMUST00000137702] [ENSMUST00000187524] [ENSMUST00000185481] [ENSMUST00000188382] [ENSMUST00000146155] [ENSMUST00000145653] [ENSMUST00000188111] [ENSMUST00000191537] [ENSMUST00000186606]
AlphaFold D3YTS9
Predicted Effect possibly damaging
Transcript: ENSMUST00000012921
AA Change: V299A

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000012921
Gene: ENSMUSG00000012777
AA Change: V299A

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 possibly damaging
Transcript: ENSMUST00000107945
AA Change: V331A

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777
AA Change: V331A

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 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: 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 noncoding transcript
Transcript: ENSMUST00000116723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117033
Predicted Effect possibly damaging
Transcript: ENSMUST00000118216
AA Change: V331A

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777
AA Change: V331A

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 noncoding transcript
Transcript: ENSMUST00000125318
Predicted Effect probably benign
Transcript: ENSMUST00000137702
SMART Domains Protein: ENSMUSP00000119445
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138978
Predicted Effect probably benign
Transcript: ENSMUST00000187524
SMART Domains Protein: ENSMUSP00000140017
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185481
SMART Domains Protein: ENSMUSP00000139913
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 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: ENSMUST00000146155
SMART Domains Protein: ENSMUSP00000117318
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145653
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
Predicted Effect probably benign
Transcript: ENSMUST00000191537
SMART Domains Protein: ENSMUSP00000141077
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 50 60 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186606
SMART Domains Protein: ENSMUSP00000139441
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 50 60 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Casr C A 16: 36,495,810 V633F probably damaging Het
Cblb T G 16: 52,183,307 V716G probably benign Het
Cbln2 C T 18: 86,716,384 Q156* probably null Het
Cnn1 G T 9: 22,099,397 L14F possibly damaging Het
D830013O20Rik T C 12: 73,364,247 noncoding transcript Het
Drd1 A G 13: 54,053,878 S99P probably damaging Het
Fam35a A G 14: 34,268,625 V108A probably benign Het
Fat1 T C 8: 44,951,670 V486A possibly damaging Het
Galnt7 T C 8: 57,540,039 N416S probably damaging Het
Gm10735 T C 13: 113,041,484 probably benign Het
Gm8909 A T 17: 36,165,354 probably null Het
Jag2 T C 12: 112,912,718 T790A probably benign Het
Klhdc1 T A 12: 69,242,008 Y31N possibly damaging Het
Lama1 A T 17: 67,815,928 M2769L probably benign Het
Mms19 A G 19: 41,945,457 probably null Het
Msrb2 C A 2: 19,394,341 P172T probably damaging Het
Olfr228 T C 2: 86,483,218 S175G probably benign Het
Olfr955 A G 9: 39,470,243 V161A probably benign Het
Pcdhb9 T A 18: 37,403,279 D775E possibly damaging Het
Pkhd1 T C 1: 20,566,874 probably null Het
Preb A T 5: 30,955,964 D375E probably damaging Het
Prkdc T C 16: 15,697,226 I1010T probably damaging Het
Rbp2 A G 9: 98,498,897 probably null Het
Sept9 A G 11: 117,352,184 T66A probably damaging Het
Serpinb9b A T 13: 33,035,625 E178D probably benign Het
Tg A G 15: 66,847,166 Y258C probably damaging Het
Tmprss7 T C 16: 45,663,368 R548G probably benign Het
Uba7 G A 9: 107,979,111 A536T probably benign Het
Vmn2r114 G A 17: 23,291,665 P614S probably damaging Het
Xpc A G 6: 91,492,264 probably benign Het
Yrdc T C 4: 124,853,961 S86P probably damaging Het
Zbed6 G T 1: 133,657,376 A741D probably damaging Het
Other mutations in Acp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Acp4 APN 7 44253452 missense probably benign 0.08
IGL01739:Acp4 APN 7 44256786 nonsense probably null
IGL02013:Acp4 APN 7 44255081 missense probably benign 0.13
IGL02225:Acp4 APN 7 44256741 splice site probably null
IGL02648:Acp4 APN 7 44254990 unclassified probably benign
R0764:Acp4 UTSW 7 44252314 unclassified probably benign
R1328:Acp4 UTSW 7 44257092 splice site probably null
R1411:Acp4 UTSW 7 44256843 unclassified probably benign
R1754:Acp4 UTSW 7 44255004 missense probably benign 0.09
R2163:Acp4 UTSW 7 44255976 missense probably damaging 1.00
R2193:Acp4 UTSW 7 44253569 missense probably benign 0.01
R5120:Acp4 UTSW 7 44256971 missense probably damaging 1.00
R7890:Acp4 UTSW 7 44254104 missense probably damaging 1.00
R8557:Acp4 UTSW 7 44255848 critical splice donor site probably null
R8915:Acp4 UTSW 7 44254327 missense possibly damaging 0.64
R8959:Acp4 UTSW 7 44256975 missense possibly damaging 0.95
Posted On 2015-04-16