Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01982:Acp1'

182764

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acp1

Ensembl Gene

ENSMUSG00000044573

Gene Name

acid phosphatase 1, soluble

Synonyms

Acp-1, LMW-PTP, 4632432E04Rik, Lmptp

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01982

Quality Score

Status

Chromosome

Chromosomal Location

30943325-30961588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30961491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 14 (L14H)

Ref Sequence

ENSEMBL: ENSMUSP00000151833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020997] [ENSMUST00000062740] [ENSMUST00000074038] [ENSMUST00000110880] [ENSMUST00000219697]

AlphaFold

Q9D358

Predicted Effect

probably benign
Transcript: ENSMUST00000020997

SMART Domains

Protein: ENSMUSP00000020997
Gene: ENSMUSG00000020669

Domain	Start	End	E-Value	Type
Pfam:Ysc84	86	209	1.9e-42	PFAM
SH3	284	340	9.6e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062740
AA Change: L14H

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106509
Gene: ENSMUSG00000044573
AA Change: L14H

Domain	Start	End	E-Value	Type
LMWPc	7	156	1.58e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074038
AA Change: L14H

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073686
Gene: ENSMUSG00000044573
AA Change: L14H

Domain	Start	End	E-Value	Type
LMWPc	7	156	5.62e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110880

SMART Domains

Protein: ENSMUSP00000106504
Gene: ENSMUSG00000020669

Domain	Start	End	E-Value	Type
Pfam:DUF500	47	172	2.9e-44	PFAM
SH3	246	302	9.6e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218696

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219697
AA Change: L14H

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222791

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a null allele show an increased mean serum IL-6 response to LPS challenge. Male homozygotes are smaller than controls whereas female homozygotes show an increased mean skin fibroblast proliferation rate. Males homozygous for a different null allele show decreased response of heart to induced stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,385,857 (GRCm39)	S254A	probably benign	Het
Abca7	T	G	10: 79,838,475 (GRCm39)	L583R	probably damaging	Het
Adar	A	G	3: 89,645,397 (GRCm39)	I3V	probably benign	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,536,845 (GRCm39)	I103V	probably benign	Het
Asic3	C	A	5: 24,622,719 (GRCm39)	T523N	probably benign	Het
Aspm	T	C	1: 139,419,326 (GRCm39)	V1732A	probably benign	Het
Atad3a	C	T	4: 155,838,384 (GRCm39)	R211Q	possibly damaging	Het
Bahcc1	A	G	11: 120,178,299 (GRCm39)	Y2286C	probably damaging	Het
BC034090	T	C	1: 155,099,078 (GRCm39)	E569G	probably damaging	Het
Bpifb3	A	G	2: 153,767,521 (GRCm39)	N237S	probably benign	Het
Bysl	C	A	17: 47,921,996 (GRCm39)		probably null	Het
C2cd6	T	C	1: 59,106,932 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,861,003 (GRCm39)	F925L	probably damaging	Het
Cdca2	A	T	14: 67,915,168 (GRCm39)	V697E	probably damaging	Het
Cers1	A	G	8: 70,776,081 (GRCm39)	D324G	probably damaging	Het
Ctsq	T	A	13: 61,186,732 (GRCm39)	I91F	probably benign	Het
Ctsq	C	T	13: 61,187,335 (GRCm39)	C11Y	probably benign	Het
Cyp11b1	T	C	15: 74,711,252 (GRCm39)	N142S	possibly damaging	Het
Cyp3a59	G	T	5: 146,041,545 (GRCm39)	S363I	probably benign	Het
Eps15l1	A	T	8: 73,132,919 (GRCm39)	D567E	probably benign	Het
Esf1	G	A	2: 140,006,448 (GRCm39)	A233V	probably benign	Het
Fras1	A	T	5: 96,887,107 (GRCm39)	I2630F	possibly damaging	Het
Fyb1	A	T	15: 6,609,658 (GRCm39)	E77V	probably null	Het
Gjb6	C	A	14: 57,362,030 (GRCm39)	W77L	probably damaging	Het
Gm21983	A	G	7: 26,879,703 (GRCm39)	V88A	possibly damaging	Het
Gm8247	A	G	14: 44,823,088 (GRCm39)	T52A	probably damaging	Het
Gpr108	T	C	17: 57,544,877 (GRCm39)	K329E	probably damaging	Het
Gpr141	T	A	13: 19,935,908 (GRCm39)	H289L	probably benign	Het
Ilvbl	T	C	10: 78,414,856 (GRCm39)	Y240H	probably damaging	Het
Kntc1	G	A	5: 123,947,159 (GRCm39)	A1868T	probably benign	Het
Lrmda	A	C	14: 22,634,550 (GRCm39)	N112T	probably damaging	Het
Ly75	T	C	2: 60,142,108 (GRCm39)	Y1334C	probably damaging	Het
Macc1	C	A	12: 119,409,369 (GRCm39)	P46T	probably benign	Het
Madd	A	T	2: 91,006,052 (GRCm39)	F381Y	probably damaging	Het
Map3k20	C	T	2: 72,128,677 (GRCm39)	Q38*	probably null	Het
Mcm4	A	T	16: 15,448,284 (GRCm39)	D424E	possibly damaging	Het
Micu1	T	A	10: 59,699,100 (GRCm39)	M463K	possibly damaging	Het
Mkrn2os	A	G	6: 115,562,492 (GRCm39)	L157P	probably damaging	Het
Nectin2	A	G	7: 19,451,487 (GRCm39)	S516P	probably damaging	Het
Nme5	T	A	18: 34,702,928 (GRCm39)	D120V	probably damaging	Het
Npy4r	T	C	14: 33,869,282 (GRCm39)	N2S	possibly damaging	Het
Nup107	A	T	10: 117,595,245 (GRCm39)		probably benign	Het
Omd	T	C	13: 49,742,973 (GRCm39)	Y8H	possibly damaging	Het
Phf8-ps	T	G	17: 33,285,289 (GRCm39)	E504D	probably benign	Het
Ppp1r15a	T	C	7: 45,173,803 (GRCm39)		probably benign	Het
Ppp2ca	T	C	11: 51,989,891 (GRCm39)	F6L	probably benign	Het
Rab1a	T	C	11: 20,174,717 (GRCm39)	S97P	probably benign	Het
Ranbp3l	G	A	15: 9,058,827 (GRCm39)	G359R	probably damaging	Het
Rnf213	A	T	11: 119,334,094 (GRCm39)	H3101L	probably damaging	Het
Slc27a4	T	C	2: 29,702,627 (GRCm39)	F509S	probably damaging	Het
Slco4a1	T	C	2: 180,114,946 (GRCm39)	V623A	probably benign	Het
Spart	T	A	3: 55,035,911 (GRCm39)		probably null	Het
Sptan1	A	G	2: 29,909,980 (GRCm39)	D1780G	probably damaging	Het
Tgm7	G	T	2: 120,924,106 (GRCm39)	Y605*	probably null	Het
Tmem106b	T	C	6: 13,071,968 (GRCm39)		probably benign	Het
Trak2	G	A	1: 58,965,814 (GRCm39)	A120V	possibly damaging	Het
Trappc8	G	A	18: 21,007,769 (GRCm39)		probably benign	Het
Trim66	T	C	7: 109,057,970 (GRCm39)	T973A	probably benign	Het
Ttyh3	C	A	5: 140,621,829 (GRCm39)		probably benign	Het
Ugt2b37	A	C	5: 87,390,291 (GRCm39)	I385S	probably damaging	Het
Usf3	A	G	16: 44,039,180 (GRCm39)	N1220S	possibly damaging	Het
Utrn	A	T	10: 12,623,773 (GRCm39)	I155N	probably damaging	Het
Vps13b	C	T	15: 35,439,050 (GRCm39)	Q377*	probably null	Het
Washc2	A	T	6: 116,213,150 (GRCm39)	E570D	probably benign	Het
Wscd1	T	C	11: 71,657,699 (GRCm39)	V168A	possibly damaging	Het
Zfp386	T	A	12: 116,022,788 (GRCm39)	C169S	probably benign	Het

Other mutations in Acp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00722:Acp1	APN	12	30,947,792 (GRCm39)	missense	probably damaging	1.00
IGL00929:Acp1	APN	12	30,954,899 (GRCm39)	missense	probably damaging	1.00
IGL03012:Acp1	APN	12	30,945,948 (GRCm39)	missense	probably benign	0.08
R0918:Acp1	UTSW	12	30,955,126 (GRCm39)	nonsense	probably null
R1433:Acp1	UTSW	12	30,945,934 (GRCm39)	missense	possibly damaging	0.75
R1797:Acp1	UTSW	12	30,946,113 (GRCm39)	critical splice donor site	probably null
R1854:Acp1	UTSW	12	30,947,804 (GRCm39)	missense	possibly damaging	0.68
R4843:Acp1	UTSW	12	30,946,144 (GRCm39)	nonsense	probably null
R5225:Acp1	UTSW	12	30,955,078 (GRCm39)	missense	probably benign	0.05

Posted On

2014-05-07