Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02648:Acp4'

302041

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 #

IGL02648

Quality Score

Status

Chromosome

Chromosomal Location

43901572-43906802 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 43904414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141077 (fasta)

Gene Model

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

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: 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 benign
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 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

noncoding transcript
Transcript: ENSMUST00000138978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137742

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: 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: ENSMUST00000187524

SMART Domains

Protein: ENSMUSP00000140017
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	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: ENSMUST00000145653

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: ENSMUST00000186606

SMART Domains

Protein: ENSMUSP00000139441
Gene: ENSMUSG00000045411

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188476

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: 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

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,344,392 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,659,738 (GRCm39)	M1997K	probably benign	Het
Arhgdib	T	C	6: 136,910,647 (GRCm39)	D38G	probably damaging	Het
Bbox1	T	G	2: 110,135,871 (GRCm39)	D36A	probably damaging	Het
Cacna1c	T	C	6: 118,734,457 (GRCm39)	K104R	probably damaging	Het
Cacna1i	G	A	15: 80,182,839 (GRCm39)	C75Y	probably damaging	Het
Ccdc14	T	C	16: 34,517,528 (GRCm39)	L70S	probably damaging	Het
Ccdc88a	T	G	11: 29,451,051 (GRCm39)	V1580G	probably benign	Het
Cdadc1	C	A	14: 59,823,812 (GRCm39)	D227Y	probably damaging	Het
Chd3	T	C	11: 69,242,976 (GRCm39)	Y1415C	probably damaging	Het
Cngb3	A	G	4: 19,428,489 (GRCm39)	N493S	probably benign	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Gm10549	C	A	18: 33,597,303 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,758,683 (GRCm39)	V678M	probably damaging	Het
Gucy2c	G	A	6: 136,706,211 (GRCm39)	R497*	probably null	Het
Itgad	T	C	7: 127,782,546 (GRCm39)		probably benign	Het
Lgr4	C	A	2: 109,842,718 (GRCm39)	T877K	probably damaging	Het
Lrig3	A	G	10: 125,802,463 (GRCm39)	D40G	probably benign	Het
Myo3b	T	C	2: 69,935,716 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,161,093 (GRCm39)	Y2193H	possibly damaging	Het
Or4b1	T	A	2: 89,979,697 (GRCm39)	I218F	possibly damaging	Het
Or8b3b	T	C	9: 38,584,312 (GRCm39)	M143V	probably benign	Het
Pard6b	A	G	2: 167,940,847 (GRCm39)	Q278R	probably benign	Het
Pate10	A	T	9: 35,652,405 (GRCm39)	M21L	probably benign	Het
Pkd2l1	T	C	19: 44,143,975 (GRCm39)	Y366C	possibly damaging	Het
Prl2c1	A	G	13: 28,041,542 (GRCm39)	D188G	probably benign	Het
Prl3a1	G	T	13: 27,454,218 (GRCm39)	M65I	probably benign	Het
Psg26	T	A	7: 18,216,691 (GRCm39)	E49D	probably benign	Het
Rapgef3	G	A	15: 97,656,273 (GRCm39)	R38W	probably damaging	Het
Rrn3	T	C	16: 13,629,453 (GRCm39)	F590L	probably benign	Het
Serpina12	T	C	12: 104,004,267 (GRCm39)	K122E	probably benign	Het
Slc39a6	T	C	18: 24,715,424 (GRCm39)	I699V	probably damaging	Het
Tmem259	G	A	10: 79,813,651 (GRCm39)	P443S	probably damaging	Het
Vmn1r75	T	A	7: 11,615,091 (GRCm39)	F274L	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
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

2015-04-16