Mutagenetix > Incidental Mutation

Incidental Mutation 'R1328:Acp4'

157278

Institutional Source

Beutler Lab

Gene Symbol

Acp4

Ensembl Gene

ENSMUSG00000012777

Gene Name

acid phosphatase 4

Synonyms

Acpt, EG546967

MMRRC Submission

039394-MU

Accession Numbers

Essential gene?

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

Stock #

R1328 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43901572-43906802 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 43906516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012921] [ENSMUST00000012921] [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107945] [ENSMUST00000107945] [ENSMUST00000107948] [ENSMUST00000107949] [ENSMUST00000118216] [ENSMUST00000118216] [ENSMUST00000124863] [ENSMUST00000107950] [ENSMUST00000188111] [ENSMUST00000188382]

AlphaFold

D3YTS9

Predicted Effect

probably null
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 null
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: 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

probably null
Transcript: ENSMUST00000107945

SMART Domains

Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777

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 null
Transcript: ENSMUST00000107945

SMART Domains

Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777

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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000187314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147088

Predicted Effect

probably benign
Transcript: ENSMUST00000124863

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: 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: 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.9%

Validation Efficiency

100% (37/37)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcap29	T	C	12: 31,680,807 (GRCm39)	I60V	probably benign	Het
Ccdc71	T	A	9: 108,340,148 (GRCm39)		probably benign	Het
Ccnb1ip1	A	T	14: 51,027,382 (GRCm39)	V240E	probably benign	Het
Copa	C	T	1: 171,949,258 (GRCm39)		probably benign	Het
Dmxl2	G	T	9: 54,303,533 (GRCm39)	Q2314K	probably benign	Het
Fam181b	T	C	7: 92,729,437 (GRCm39)	I70T	probably damaging	Het
Fbxl14	T	C	6: 119,457,347 (GRCm39)	L176P	possibly damaging	Het
Fip1l1	T	A	5: 74,706,796 (GRCm39)	F144L	possibly damaging	Het
Flnc	T	C	6: 29,438,612 (GRCm39)	W169R	probably damaging	Het
H2-M3	T	C	17: 37,581,925 (GRCm39)	V127A	possibly damaging	Het
Il23r	T	A	6: 67,468,802 (GRCm39)		probably benign	Het
Krt18	C	T	15: 101,939,169 (GRCm39)	A251V	probably benign	Het
Mast1	A	G	8: 85,644,617 (GRCm39)		probably benign	Het
Or6c202	A	G	10: 128,996,293 (GRCm39)	S187P	possibly damaging	Het
Or9i14	G	A	19: 13,792,900 (GRCm39)	T18I	probably benign	Het
Pkhd1l1	T	C	15: 44,361,392 (GRCm39)	Y481H	probably benign	Het
Polr3e	C	T	7: 120,533,046 (GRCm39)		probably benign	Het
Pou4f2	G	A	8: 79,162,759 (GRCm39)	A92V	probably benign	Het
Pramel5	A	G	4: 143,998,058 (GRCm39)	L395P	probably damaging	Het
Prmt9	T	C	8: 78,299,283 (GRCm39)	I659T	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rrp36	T	A	17: 46,983,705 (GRCm39)	K36*	probably null	Het
Sag	G	A	1: 87,738,016 (GRCm39)		probably benign	Het
Setd7	T	C	3: 51,450,240 (GRCm39)	Y62C	possibly damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Sox13	T	C	1: 133,311,555 (GRCm39)	D559G	probably damaging	Het
Srd5a1	T	A	13: 69,723,310 (GRCm39)	Y236F	probably damaging	Het
Stxbp2	A	T	8: 3,692,657 (GRCm39)	I570F	possibly damaging	Het
Tbc1d31	T	C	15: 57,805,859 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,260,913 (GRCm39)	T1064A	possibly damaging	Het
Vmn1r8	T	C	6: 57,013,278 (GRCm39)	S110P	possibly damaging	Het
Vmn2r118	C	A	17: 55,915,620 (GRCm39)	M443I	probably benign	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
R0764:Acp4	UTSW	7	43,901,738 (GRCm39)	unclassified	probably benign
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'- ACTTAGAAGCCCATAGGGGTGCAG -3'
(R):5'- TGAGTCTGAGGCTAATGAGCAGGTG -3'

Sequencing Primer
(F):5'- GCTCAGGAAAGCCTTGTAAC -3'
(R):5'- CTAATGAGCAGGTGAGGCCAC -3'

Posted On

2014-02-18