Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03012:Pgap1'

407822

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgap1

Ensembl Gene

ENSMUSG00000073678

Gene Name

post-GPI attachment to proteins 1

Synonyms

PGAP1, D230012E17Rik, oto, 5033403E17Rik, 9030223K07Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.830) question?

Stock #

IGL03012

Quality Score

Status

Chromosome

Chromosomal Location

54472994-54557684 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 54533413 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097739]

Predicted Effect

probably benign
Transcript: ENSMUST00000097739

SMART Domains

Protein: ENSMUSP00000095346
Gene: ENSMUSG00000073678

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:PGAP1	82	302	7.2e-83	PFAM
transmembrane domain	597	619	N/A	INTRINSIC
transmembrane domain	678	700	N/A	INTRINSIC
transmembrane domain	737	759	N/A	INTRINSIC
transmembrane domain	819	838	N/A	INTRINSIC
low complexity region	854	866	N/A	INTRINSIC
low complexity region	871	884	N/A	INTRINSIC
transmembrane domain	902	921	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187949

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause of mental retardation, autosomal recessive 42. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	A	C	9: 119,156,946	S17A	probably benign	Het
Acp1	T	G	12: 30,895,949	N135T	probably benign	Het
Adamts2	A	G	11: 50,776,269		probably benign	Het
Arfgef2	C	T	2: 166,868,888		probably benign	Het
Atp10b	T	A	11: 43,194,655	I287N	probably damaging	Het
Camta1	T	A	4: 151,453,299	K141N	probably damaging	Het
Carmil1	T	C	13: 24,036,372	D719G	probably benign	Het
Cntnap5c	T	A	17: 58,359,234	H1086Q	probably benign	Het
Dsg3	A	G	18: 20,537,243		probably null	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
G6pd2	A	G	5: 61,809,473	Y197C	probably damaging	Het
Il13ra1	G	T	X: 36,130,594		probably benign	Het
Ivl	G	A	3: 92,572,426	P111S	probably benign	Het
Kmt2a	T	C	9: 44,810,966		probably benign	Het
Lztr1	T	C	16: 17,521,484	S57P	possibly damaging	Het
Mtss1	T	G	15: 59,058,400	D32A	probably damaging	Het
Mylk	G	A	16: 34,952,781	D1250N	probably benign	Het
Ncln	A	G	10: 81,489,965	F349L	probably benign	Het
Rarres2	T	C	6: 48,570,305	D107G	probably benign	Het
Ric3	T	C	7: 109,038,718	D276G	probably benign	Het
Trim54	A	G	5: 31,137,145	D339G	probably benign	Het
Trip11	G	A	12: 101,883,936	H1005Y	probably damaging	Het
Tulp4	G	T	17: 6,213,379		probably benign	Het
Unc93a	C	T	17: 13,109,608	E453K	probably benign	Het
Vmn1r181	A	T	7: 23,984,602	D164V	probably damaging	Het
Vmn1r78	T	A	7: 12,153,364	S301T	probably benign	Het
Vmn1r85	T	C	7: 13,084,765	N151D	probably benign	Het
Wnk2	T	C	13: 49,044,389	K2008E	probably damaging	Het
Wrap73	A	G	4: 154,145,234		probably benign	Het
Zfp408	G	A	2: 91,647,808	A41V	probably benign	Het
Zfp472	A	G	17: 32,977,571	S207G	probably benign	Het

Other mutations in Pgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Pgap1	APN	1	54492021	splice site	probably benign
IGL01111:Pgap1	APN	1	54530943	missense	probably benign	0.17
IGL01406:Pgap1	APN	1	54533414	splice site	probably null
IGL01592:Pgap1	APN	1	54521311	missense	probably damaging	1.00
IGL02005:Pgap1	APN	1	54551055	missense	probably damaging	0.99
IGL02026:Pgap1	APN	1	54494819	missense	probably benign	0.05
IGL02086:Pgap1	APN	1	54547988	missense	probably damaging	1.00
IGL02354:Pgap1	APN	1	54512816	missense	probably benign	0.02
IGL02361:Pgap1	APN	1	54512816	missense	probably benign	0.02
IGL02995:Pgap1	APN	1	54493350	missense	probably benign	0.19
R0044:Pgap1	UTSW	1	54493368	missense	probably damaging	1.00
R0109:Pgap1	UTSW	1	54494825	missense	probably damaging	1.00
R0109:Pgap1	UTSW	1	54494825	missense	probably damaging	1.00
R0241:Pgap1	UTSW	1	54535951	splice site	probably null
R0241:Pgap1	UTSW	1	54535951	splice site	probably null
R0352:Pgap1	UTSW	1	54486458	splice site	probably benign
R1297:Pgap1	UTSW	1	54528523	missense	possibly damaging	0.94
R1429:Pgap1	UTSW	1	54494861	missense	probably benign	0.01
R1465:Pgap1	UTSW	1	54528555	missense	probably benign	0.11
R1465:Pgap1	UTSW	1	54528555	missense	probably benign	0.11
R1542:Pgap1	UTSW	1	54492090	missense	probably benign	0.16
R1816:Pgap1	UTSW	1	54492057	missense	probably damaging	0.99
R1817:Pgap1	UTSW	1	54535969	missense	probably benign	0.15
R1905:Pgap1	UTSW	1	54511961	missense	probably benign	0.26
R2006:Pgap1	UTSW	1	54551061	missense	possibly damaging	0.76
R3551:Pgap1	UTSW	1	54530143	missense	possibly damaging	0.89
R3833:Pgap1	UTSW	1	54557465	missense	probably damaging	0.99
R3901:Pgap1	UTSW	1	54493348	missense	probably benign
R4487:Pgap1	UTSW	1	54528592	missense	probably benign	0.26
R4874:Pgap1	UTSW	1	54530137	missense	probably damaging	0.96
R5184:Pgap1	UTSW	1	54481856	missense	probably damaging	1.00
R6181:Pgap1	UTSW	1	54512777	missense	probably benign	0.05
R6212:Pgap1	UTSW	1	54514893	missense	probably damaging	0.99
R6269:Pgap1	UTSW	1	54548008	nonsense	probably null
R6525:Pgap1	UTSW	1	54481889	missense	probably benign	0.00
R6944:Pgap1	UTSW	1	54530161	missense	probably damaging	1.00
R7214:Pgap1	UTSW	1	54543061	missense	possibly damaging	0.47
R7256:Pgap1	UTSW	1	54493207	critical splice donor site	probably null
R7290:Pgap1	UTSW	1	54548066	missense	possibly damaging	0.45
R7356:Pgap1	UTSW	1	54530134	missense	probably benign	0.10
R7525:Pgap1	UTSW	1	54530922	missense	probably benign	0.26
R7602:Pgap1	UTSW	1	54543186	missense	probably damaging	1.00
R7897:Pgap1	UTSW	1	54551008	missense	probably damaging	1.00
R8278:Pgap1	UTSW	1	54490271	missense	probably benign
X0025:Pgap1	UTSW	1	54481870	missense	probably benign	0.26
X0060:Pgap1	UTSW	1	54536034	missense	probably damaging	1.00

Posted On

2016-08-02