Incidental Mutation 'R1411:Acp4'
ID 200805
Institutional Source Beutler Lab
Gene Symbol Acp4
Ensembl Gene ENSMUSG00000012777
Gene Name acid phosphatase 4
Synonyms Acpt, EG546967
MMRRC Submission 039467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1411 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43901572-43906802 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 43906267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012921] [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107945] [ENSMUST00000107948] [ENSMUST00000118216] [ENSMUST00000124863] [ENSMUST00000188382] [ENSMUST00000107949] [ENSMUST00000107950] [ENSMUST00000188111]
AlphaFold D3YTS9
Predicted Effect probably benign
Transcript: ENSMUST00000012921
SMART Domains Protein: ENSMUSP00000012921
Gene: ENSMUSG00000012777

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 benign
Transcript: ENSMUST00000107945
SMART Domains Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777

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: ENSMUST00000118216
SMART Domains Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777

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 noncoding transcript
Transcript: ENSMUST00000187314
Predicted Effect probably benign
Transcript: ENSMUST00000124863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147088
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: 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 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
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (46/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,374 (GRCm39) I85F probably damaging Het
Baz1b T C 5: 135,259,177 (GRCm39) F1080L possibly damaging Het
Cbx5 A T 15: 103,121,547 (GRCm39) M30K probably benign Het
Cdc73 A G 1: 143,485,252 (GRCm39) probably benign Het
Cdcp1 A T 9: 123,019,177 (GRCm39) L34Q probably damaging Het
Chd8 C T 14: 52,462,103 (GRCm39) V738I probably benign Het
Cpeb2 T G 5: 43,391,113 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,627,035 (GRCm39) D265V probably damaging Het
Cyp2j11 A G 4: 96,233,453 (GRCm39) I81T probably benign Het
Dbx2 T C 15: 95,530,262 (GRCm39) E235G probably damaging Het
Dgkq C A 5: 108,798,228 (GRCm39) V677F probably damaging Het
Ercc5 A G 1: 44,217,441 (GRCm39) N928S probably damaging Het
Flt1 C T 5: 147,517,126 (GRCm39) V1054M probably damaging Het
Flywch1 T C 17: 23,974,798 (GRCm39) D614G probably damaging Het
Frmd3 T C 4: 74,071,858 (GRCm39) F247L probably damaging Het
Gm1527 A G 3: 28,968,632 (GRCm39) N228S probably benign Het
Gpld1 T A 13: 25,146,791 (GRCm39) L251Q probably damaging Het
Gvin-ps3 C T 7: 105,682,686 (GRCm39) A190T probably benign Het
Gzma C T 13: 113,232,742 (GRCm39) V117I probably benign Het
Hydin C A 8: 111,301,663 (GRCm39) T3798K probably benign Het
Il1rapl1 T A X: 85,790,904 (GRCm39) S679C possibly damaging Het
Lrrc8c G A 5: 105,756,045 (GRCm39) A607T probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mfsd4b4 A T 10: 39,768,136 (GRCm39) M319K probably damaging Het
Mroh2b A C 15: 4,947,799 (GRCm39) H538P probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nup188 A G 2: 30,233,807 (GRCm39) T1733A probably benign Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Ofcc1 A G 13: 40,296,263 (GRCm39) S524P probably benign Het
Or6x1 C T 9: 40,098,435 (GRCm39) T8I possibly damaging Het
Padi4 C T 4: 140,479,914 (GRCm39) S413N probably damaging Het
Pdzrn4 A G 15: 92,668,894 (GRCm39) *1015W probably null Het
Pkhd1 G A 1: 20,444,120 (GRCm39) P2314L probably damaging Het
Serpinb9c C G 13: 33,335,817 (GRCm39) V212L probably benign Het
Slc25a23 A G 17: 57,366,622 (GRCm39) F18L probably damaging Het
Smarca4 C A 9: 21,570,251 (GRCm39) N751K probably damaging Het
Tfip11 G T 5: 112,480,899 (GRCm39) V292L probably benign Het
Tnrc18 T C 5: 142,751,702 (GRCm39) K1201R unknown Het
Vmn1r199 T C 13: 22,567,671 (GRCm39) F322L probably benign Het
Vmn1r201 T C 13: 22,658,849 (GRCm39) V21A probably benign Het
Vmn2r108 A T 17: 20,683,107 (GRCm39) I699K probably damaging Het
Vmn2r117 T C 17: 23,679,527 (GRCm39) N566D probably damaging Het
Wdr12 A T 1: 60,127,231 (GRCm39) D141E probably benign Het
Zfp974 A G 7: 27,610,634 (GRCm39) S364P probably benign 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
IGL01739:Acp4 APN 7 43,906,210 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACTTAGAAGCCCATAGGGGTGCAG -3'
(R):5'- TCCAAGTCAGTCCTGACCTGGTTC -3'

Sequencing Primer
(F):5'- CCATAGGGGTGCAGGTCAAATAG -3'
(R):5'- AACATCCCCAGGTGTTCCG -3'
Posted On 2014-05-23