Mutagenetix > Incidental Mutation

Incidental Mutation 'R0764:Acp4'

72553

Institutional Source

Beutler Lab

Gene Symbol

Acp4

Ensembl Gene

ENSMUSG00000012777

Gene Name

acid phosphatase 4

Synonyms

Acpt, EG546967

MMRRC Submission

038944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R0764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43901572-43906802 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 43901738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012921] [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000071296] [ENSMUST00000071296] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107945] [ENSMUST00000107948] [ENSMUST00000107949] [ENSMUST00000107949] [ENSMUST00000107949] [ENSMUST00000107949] [ENSMUST00000107950] [ENSMUST00000107950] [ENSMUST00000107950] [ENSMUST00000107950] [ENSMUST00000146155] [ENSMUST00000137702] [ENSMUST00000118216] [ENSMUST00000145653] [ENSMUST00000188382] [ENSMUST00000186606] [ENSMUST00000188111] [ENSMUST00000185481] [ENSMUST00000191537] [ENSMUST00000187524]

AlphaFold

D3YTS9

Predicted Effect

probably benign
Transcript: ENSMUST00000012921

SMART Domains

Protein: ENSMUSP00000012921
Gene: ENSMUSG00000012777

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000107945
AA Change: R432G

SMART Domains

Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777
AA Change: R432G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144905

Predicted Effect

probably benign
Transcript: ENSMUST00000146155

SMART Domains

Protein: ENSMUSP00000117318
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137702

SMART Domains

Protein: ENSMUSP00000119445
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118216

SMART Domains

Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777

Domain	Start	End	E-Value	Type
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: ENSMUST00000145653

Predicted Effect

probably benign
Transcript: ENSMUST00000188382

SMART Domains

Protein: ENSMUSP00000140200
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188476

Predicted Effect

probably benign
Transcript: ENSMUST00000186606

SMART Domains

Protein: ENSMUSP00000139441
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188111

SMART Domains

Protein: ENSMUSP00000139694
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185481

SMART Domains

Protein: ENSMUSP00000139913
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191537

SMART Domains

Protein: ENSMUSP00000141077
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187524

SMART Domains

Protein: ENSMUSP00000140017
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.1%

Validation Efficiency

98% (48/49)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,950,772 (GRCm39)	Y898N	probably damaging	Het
Adipor2	T	C	6: 119,334,215 (GRCm39)	I332V	probably benign	Het
Ago3	T	A	4: 126,248,885 (GRCm39)	K555N	possibly damaging	Het
Angpt4	A	G	2: 151,753,204 (GRCm39)		probably benign	Het
Ano5	G	T	7: 51,187,590 (GRCm39)		probably benign	Het
Ap3b1	C	T	13: 94,616,387 (GRCm39)		probably benign	Het
Cbl	A	T	9: 44,075,449 (GRCm39)	C399S	probably damaging	Het
Cdkl2	C	A	5: 92,168,136 (GRCm39)	V353L	probably benign	Het
Celsr3	A	G	9: 108,705,017 (GRCm39)	Y500C	probably damaging	Het
Cep162	A	G	9: 87,083,798 (GRCm39)	S1242P	probably damaging	Het
Crhr1	C	T	11: 104,050,152 (GRCm39)	R66W	probably damaging	Het
Ddx49	T	C	8: 70,749,907 (GRCm39)	E170G	probably benign	Het
Fam193a	T	C	5: 34,600,685 (GRCm39)	F305L	probably damaging	Het
Fam76a	C	T	4: 132,638,010 (GRCm39)	G198R	probably damaging	Het
Gm43302	T	A	5: 105,428,355 (GRCm39)	I130F	probably benign	Het
Hectd4	T	A	5: 121,424,832 (GRCm39)	I745N	possibly damaging	Het
Ina	T	A	19: 47,012,087 (GRCm39)	*502K	probably null	Het
Kdm1b	A	T	13: 47,222,079 (GRCm39)	D506V	possibly damaging	Het
Lrrk2	A	G	15: 91,659,249 (GRCm39)		probably null	Het
Ly6g2	T	A	15: 75,092,572 (GRCm39)	F97Y	probably benign	Het
Naip5	A	T	13: 100,353,613 (GRCm39)	D1215E	probably benign	Het
Neb	A	G	2: 52,106,879 (GRCm39)		probably benign	Het
Nectin2	T	A	7: 19,483,096 (GRCm39)		probably null	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2aj5	G	T	16: 19,425,182 (GRCm39)	P79T	probably damaging	Het
Or4a71	A	G	2: 89,358,340 (GRCm39)	V138A	probably benign	Het
Osbp	A	G	19: 11,961,520 (GRCm39)		probably benign	Het
Otog	A	G	7: 45,949,918 (GRCm39)	D2460G	probably benign	Het
Pcgf1	T	C	6: 83,056,150 (GRCm39)	C2R	probably damaging	Het
Per2	C	T	1: 91,357,142 (GRCm39)	V674M	probably damaging	Het
Pias3	C	T	3: 96,608,611 (GRCm39)	P218S	probably damaging	Het
Plod3	C	T	5: 137,018,437 (GRCm39)		probably benign	Het
Purb	C	T	11: 6,425,661 (GRCm39)	V76M	probably damaging	Het
Ranbp1	C	A	16: 18,058,022 (GRCm39)	E181*	probably null	Het
Rit2	T	C	18: 31,286,754 (GRCm39)		probably benign	Het
Rnf103	C	A	6: 71,486,566 (GRCm39)	T399K	probably damaging	Het
Slc22a13	T	C	9: 119,037,746 (GRCm39)		probably null	Het
Slc35f4	T	A	14: 49,543,796 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tnfrsf17	C	T	16: 11,133,063 (GRCm39)	T47M	possibly damaging	Het
Tram1	A	G	1: 13,649,933 (GRCm39)	I97T	probably damaging	Het
Ttc38	T	C	15: 85,730,604 (GRCm39)		probably benign	Het
Zfp113	T	A	5: 138,143,506 (GRCm39)	Q248L	probably damaging	Het

Other mutations in Acp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGGGCCAGTCTCCCTAGTGTAAAG -3'
(R):5'- GGAGCATACCCTGGAATCCAAGAAC -3'

Sequencing Primer
(F):5'- CAGTCTCCCTAGTGTAAAGGCTTAAC -3'
(R):5'- ACTAGAGGGTCTGATCAATTGC -3'

Posted On

2013-09-30