Mutagenetix > Incidental Mutation

Incidental Mutation 'R1754:Acp4'

193839

Institutional Source

Beutler Lab

Gene Symbol

Acp4

Ensembl Gene

ENSMUSG00000012777

Gene Name

acid phosphatase 4

Synonyms

EG546967, Acpt

MMRRC Submission

039786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1754 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

44252148-44257378 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44255004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 212 (I212V)

Ref Sequence

ENSEMBL: ENSMUSP00000103578 (fasta)

Gene Model

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

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
AA Change: I212V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777
AA Change: I212V

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: 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: ENSMUST00000116723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117033

Predicted Effect

probably benign
Transcript: ENSMUST00000118216
AA Change: I212V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777
AA Change: I212V

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: ENSMUST00000125318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188476

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: 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: ENSMUST00000145653

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: 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: 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: 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: 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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,321,031	V123A	probably damaging	Het
Abca2	T	A	2: 25,434,333	L234M	probably benign	Het
Abca3	G	A	17: 24,377,779	S402N	probably benign	Het
Acad12	A	T	5: 121,607,481	V249D	probably benign	Het
Actl6a	T	A	3: 32,718,574	V233D	probably damaging	Het
Aire	T	A	10: 78,030,290	Q533L	probably damaging	Het
Aldh3b3	T	C	19: 3,968,517	S411P	probably benign	Het
Amer2	A	G	14: 60,379,757	K467R	probably damaging	Het
Apol9b	A	T	15: 77,735,762	I253F	probably benign	Het
Arid1b	A	G	17: 5,279,201		probably null	Het
Atp6v0a4	T	C	6: 38,067,829	T494A	probably benign	Het
Atp6v1b2	A	G	8: 69,101,961	D106G	probably benign	Het
Avpr1b	T	C	1: 131,600,101	S121P	probably damaging	Het
Bcl11a	A	C	11: 24,164,724	E689A	probably damaging	Het
Brpf3	T	G	17: 28,821,323	L906R	probably benign	Het
Btn1a1	T	C	13: 23,460,468	K287E	probably benign	Het
Cacna1i	A	G	15: 80,371,529	H871R	probably damaging	Het
Cd14	A	T	18: 36,725,514	L296Q	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Colgalt1	G	T	8: 71,623,179	W490L	probably damaging	Het
Ctnna2	A	G	6: 77,636,749	I273T	possibly damaging	Het
Dnah7a	A	T	1: 53,504,185	D2275E	probably benign	Het
Dnah7a	A	C	1: 53,561,900		probably null	Het
Egfem1	T	C	3: 29,668,333	Y404H	possibly damaging	Het
Esm1	A	T	13: 113,216,696	N171Y	probably damaging	Het
Exoc1	T	G	5: 76,560,322		probably null	Het
Fcho1	A	G	8: 71,711,246	I580T	probably benign	Het
Fgfr1	A	G	8: 25,570,210	H552R	probably damaging	Het
Fsbp	A	G	4: 11,583,906	R202G	probably damaging	Het
Gabra6	A	G	11: 42,316,561	V231A	probably damaging	Het
Gm8765	A	T	13: 50,701,087	T254S	probably damaging	Het
Gmeb1	A	G	4: 132,232,027	S239P	probably benign	Het
Gnpat	T	A	8: 124,877,006	Y208N	probably damaging	Het
Il21	T	C	3: 37,225,525	K114R	possibly damaging	Het
Inhbc	T	C	10: 127,370,293	D35G	possibly damaging	Het
Inpp4b	A	T	8: 81,770,811	T87S	probably damaging	Het
Kcns2	T	C	15: 34,839,517	I342T	possibly damaging	Het
Ky	A	T	9: 102,541,927	T378S	possibly damaging	Het
Lcat	CAT	C	8: 105,941,814		probably null	Het
Lrrc8d	T	C	5: 105,812,657	V311A	probably benign	Het
Mief1	A	G	15: 80,249,602	I287V	probably damaging	Het
Mrpl47	A	G	3: 32,730,084	V179A	probably benign	Het
Mtcl1	T	C	17: 66,380,183	K576R	probably damaging	Het
Myh10	C	A	11: 68,813,058	A1902E	probably damaging	Het
Nlrp3	A	G	11: 59,558,402	T837A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,394	Y132H	probably damaging	Het
Oit3	T	C	10: 59,427,940		probably null	Het
Olfr1186	A	T	2: 88,525,815	R77S	probably damaging	Het
Olfr1467	T	C	19: 13,365,353	S242P	probably damaging	Het
Olfr193	T	A	16: 59,110,581	I10F	probably benign	Het
Olfr30	A	T	11: 58,455,262	M229K	probably damaging	Het
Olfr427	A	G	1: 174,100,033	T192A	probably benign	Het
Olfr533	A	T	7: 140,466,860	I220F	probably damaging	Het
Olfr8	T	A	10: 78,955,697	V164E	probably damaging	Het
Olfr825	G	A	10: 130,163,164	T54I	probably benign	Het
Pdlim4	T	C	11: 54,055,873	E196G	possibly damaging	Het
Pigs	A	G	11: 78,337,847	Y293C	probably damaging	Het
Pkd1l2	A	T	8: 117,030,719	S1527T	possibly damaging	Het
Pkd2l1	A	T	19: 44,155,601	Y344*	probably null	Het
Pmp2	T	C	3: 10,182,224		probably null	Het
Polr3e	T	C	7: 120,939,298		probably null	Het
Ppp3ca	C	G	3: 136,881,448	I230M	probably benign	Het
Ppp5c	T	C	7: 17,005,310	H463R	probably benign	Het
Ptger1	A	G	8: 83,669,297	N328D	probably benign	Het
Rhno1	A	T	6: 128,357,859	I167N	probably benign	Het
Rictor	C	A	15: 6,735,368	P34H	probably damaging	Het
Rnf10	A	C	5: 115,245,865	S630R	probably damaging	Het
Rnf168	A	G	16: 32,299,124	Q501R	probably benign	Het
Rngtt	T	G	4: 33,329,634		probably null	Het
Samd9l	G	T	6: 3,373,126	F1378L	probably damaging	Het
Slc9c1	T	A	16: 45,589,509	M864K	probably benign	Het
Slitrk5	T	C	14: 111,680,519	F525S	probably damaging	Het
Sox6	T	C	7: 115,477,055	M784V	probably benign	Het
Spint2	C	T	7: 29,260,366		probably null	Het
Ssh1	A	T	5: 113,955,845	I276N	probably damaging	Het
Trank1	T	A	9: 111,392,871	V2892D	probably benign	Het
Ttn	C	A	2: 76,751,040	E21424*	probably null	Het
Usp17lc	T	C	7: 103,418,848	I450T	probably benign	Het
Vcan	A	G	13: 89,704,735	V702A	probably benign	Het
Vmn1r36	TA	TAA	6: 66,716,533		probably null	Het
Vmn2r51	G	T	7: 10,099,946	D388E	probably benign	Het
Zfp106	G	A	2: 120,533,763	S721L	probably damaging	Het
Zfp106	A	C	2: 120,533,764	S721A	probably damaging	Het
Zfp189	T	A	4: 49,529,342	H148Q	possibly damaging	Het
Zfp352	A	T	4: 90,223,809	Y62F	probably benign	Het
Zfp839	T	C	12: 110,855,457	V235A	probably damaging	Het
Zfp871	T	C	17: 32,775,334	Y289C	probably damaging	Het

Other mutations in Acp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Acp4	APN	7	44253451	missense	possibly damaging	0.56
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
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
R9685:Acp4	UTSW	7	44257309	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCAGAGATGCCTTGGAATCTGAC -3'
(R):5'- TGTTACGAGAGTCCACAGAGGCAG -3'

Sequencing Primer
(F):5'- ATGCCTTGGAATCTGACATTCG -3'
(R):5'- AGCTGACTACCAGGAGGC -3'

Posted On

2014-05-23