Mutagenetix > Incidental Mutation

Incidental Mutation 'R1692:Pigw'

191884

Institutional Source

Beutler Lab

Gene Symbol

Pigw

Ensembl Gene

ENSMUSG00000045140

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class W

Synonyms

2610044A17Rik, Gwt1

MMRRC Submission

039725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R1692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84767141-84771111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84767892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 479 (L479R)

Ref Sequence

ENSEMBL: ENSMUSP00000103715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020837] [ENSMUST00000067058] [ENSMUST00000093969] [ENSMUST00000108080]

AlphaFold

Q8C398

Predicted Effect

probably benign
Transcript: ENSMUST00000020837

SMART Domains

Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527

Domain	Start	End	E-Value	Type
MYSc	29	205	2.18e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000067058
AA Change: L479R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: L479R

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	62	95	N/A	INTRINSIC
transmembrane domain	134	152	N/A	INTRINSIC
transmembrane domain	162	181	N/A	INTRINSIC
transmembrane domain	202	219	N/A	INTRINSIC
transmembrane domain	232	254	N/A	INTRINSIC
transmembrane domain	261	280	N/A	INTRINSIC
Pfam:GWT1	300	462	1.3e-37	PFAM
transmembrane domain	470	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093969

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527

Domain	Start	End	E-Value	Type
MYSc	29	759	4.07e-219	SMART
IQ	760	782	1.74e1	SMART
IQ	783	804	1.97e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108080
AA Change: L479R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: L479R

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	62	95	N/A	INTRINSIC
transmembrane domain	134	152	N/A	INTRINSIC
transmembrane domain	162	181	N/A	INTRINSIC
transmembrane domain	202	219	N/A	INTRINSIC
transmembrane domain	232	254	N/A	INTRINSIC
transmembrane domain	261	280	N/A	INTRINSIC
Pfam:GWT1	300	462	1.6e-36	PFAM
transmembrane domain	470	492	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141705

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

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 is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of West syndrome and hyperphosphatasia with mental retardation syndrome. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,489,673 (GRCm39)	*582R	probably null	Het
Agfg2	A	G	5: 137,662,633 (GRCm39)	Y145H	probably damaging	Het
Aldh1a1	C	T	19: 20,608,182 (GRCm39)	P335S	probably damaging	Het
Amotl1	T	C	9: 14,463,018 (GRCm39)	R732G	possibly damaging	Het
Ankef1	A	T	2: 136,392,346 (GRCm39)	I512F	probably benign	Het
Atg9a	A	T	1: 75,166,999 (GRCm39)	D17E	probably benign	Het
Atpsckmt	T	C	15: 31,602,297 (GRCm39)		probably null	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Ccnq	T	C	11: 78,642,157 (GRCm39)	E111G	probably benign	Het
Cd79a	T	A	7: 24,600,881 (GRCm39)	M192K	probably damaging	Het
Clcn1	T	G	6: 42,290,032 (GRCm39)	F822L	possibly damaging	Het
Dnajb12	A	G	10: 59,732,199 (GRCm39)	Y346C	probably damaging	Het
Erbb3	A	G	10: 128,407,594 (GRCm39)	I918T	probably benign	Het
Fbxw20	G	T	9: 109,050,777 (GRCm39)	T377K	possibly damaging	Het
Fry	A	G	5: 150,293,692 (GRCm39)	I462V	probably damaging	Het
Gmip	A	G	8: 70,266,553 (GRCm39)	N251S	probably benign	Het
Gpx1	A	G	9: 108,216,674 (GRCm39)	T55A	possibly damaging	Het
Hmcn2	T	C	2: 31,340,856 (GRCm39)	V4443A	possibly damaging	Het
Kdm4d	A	T	9: 14,375,807 (GRCm39)	I17K	probably benign	Het
Lamc3	A	G	2: 31,811,793 (GRCm39)	S927G	probably null	Het
Map7d1	G	A	4: 126,136,101 (GRCm39)	P36S	probably damaging	Het
Mfsd13a	C	A	19: 46,360,515 (GRCm39)	H356N	probably benign	Het
Mtap	C	T	4: 89,095,151 (GRCm39)	R268C	probably benign	Het
Myo1a	C	T	10: 127,555,203 (GRCm39)		probably null	Het
Myom3	T	C	4: 135,502,862 (GRCm39)	L313P	probably benign	Het
Nrxn2	T	A	19: 6,569,298 (GRCm39)	V1391E	probably damaging	Het
Otoa	A	C	7: 120,690,774 (GRCm39)	Q3P	probably damaging	Het
Phldb1	T	C	9: 44,626,717 (GRCm39)	E576G	probably damaging	Het
Pip5k1a	A	G	3: 94,971,041 (GRCm39)	I507T	probably benign	Het
Ppp4r3b	T	A	11: 29,138,123 (GRCm39)	I157N	probably benign	Het
Rrm2b	G	A	15: 37,927,566 (GRCm39)	R115*	probably null	Het
Sall1	C	T	8: 89,755,028 (GRCm39)	S1317N	probably benign	Het
Serpinb6b	T	G	13: 33,158,978 (GRCm39)	F179V	probably damaging	Het
Slc4a8	T	A	15: 100,698,454 (GRCm39)	F648I	probably damaging	Het
Slc5a7	T	C	17: 54,588,754 (GRCm39)	T298A	probably damaging	Het
Slit3	T	C	11: 35,550,171 (GRCm39)	L830P	probably damaging	Het
Smarcc1	T	A	9: 110,003,072 (GRCm39)	N387K	possibly damaging	Het
Tanc2	C	T	11: 105,748,326 (GRCm39)	T486I	probably benign	Het
Tdp1	C	T	12: 99,921,260 (GRCm39)	P599S	probably damaging	Het
Tmem33	A	G	5: 67,425,897 (GRCm39)	D38G	probably null	Het
Uvrag	C	T	7: 98,653,870 (GRCm39)	R247Q	probably benign	Het
Vars1	T	C	17: 35,232,701 (GRCm39)	V875A	probably damaging	Het
Vcl	A	G	14: 21,074,250 (GRCm39)	E879G	probably damaging	Het
Vmn1r231	C	T	17: 21,110,871 (GRCm39)	V15I	probably benign	Het
Zfp609	T	C	9: 65,702,593 (GRCm39)	T20A	probably damaging	Het
Zfp747l1	G	T	7: 126,983,652 (GRCm39)	H483Q	possibly damaging	Het
Zfp959	T	A	17: 56,205,299 (GRCm39)	H445Q	probably damaging	Het
Zmiz2	T	A	11: 6,350,795 (GRCm39)	V515E	probably damaging	Het
Zmym5	G	A	14: 57,041,650 (GRCm39)	T151M	probably damaging	Het
Zxdc	C	T	6: 90,355,933 (GRCm39)	Q481*	probably null	Het

Other mutations in Pigw

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Pigw	APN	11	84,768,714 (GRCm39)	missense	possibly damaging	0.57
IGL00778:Pigw	APN	11	84,768,150 (GRCm39)	missense	possibly damaging	0.64
IGL01062:Pigw	APN	11	84,768,769 (GRCm39)	missense	probably benign	0.00
IGL02741:Pigw	APN	11	84,769,192 (GRCm39)	missense	probably benign
IGL03136:Pigw	APN	11	84,768,603 (GRCm39)	missense	probably benign	0.43
R0959:Pigw	UTSW	11	84,769,033 (GRCm39)	missense	probably benign	0.17
R1446:Pigw	UTSW	11	84,769,186 (GRCm39)	missense	probably benign	0.04
R1851:Pigw	UTSW	11	84,768,874 (GRCm39)	missense	probably damaging	1.00
R2061:Pigw	UTSW	11	84,768,136 (GRCm39)	missense	probably benign	0.00
R3617:Pigw	UTSW	11	84,769,133 (GRCm39)	missense	probably damaging	0.98
R3693:Pigw	UTSW	11	84,769,209 (GRCm39)	missense	probably benign	0.09
R7136:Pigw	UTSW	11	84,768,585 (GRCm39)	missense	probably damaging	1.00
R7312:Pigw	UTSW	11	84,768,585 (GRCm39)	missense	probably damaging	1.00
R7317:Pigw	UTSW	11	84,768,066 (GRCm39)	missense	probably benign	0.00
R7336:Pigw	UTSW	11	84,767,930 (GRCm39)	missense	probably damaging	1.00
R7436:Pigw	UTSW	11	84,768,789 (GRCm39)	missense	probably damaging	0.97
R8002:Pigw	UTSW	11	84,769,249 (GRCm39)	missense	probably benign	0.03
R8265:Pigw	UTSW	11	84,770,847 (GRCm39)	intron	probably benign
R8726:Pigw	UTSW	11	84,768,643 (GRCm39)	missense	possibly damaging	0.84
R8893:Pigw	UTSW	11	84,767,961 (GRCm39)	missense	possibly damaging	0.88
R9456:Pigw	UTSW	11	84,768,040 (GRCm39)	missense	probably benign	0.04
RF009:Pigw	UTSW	11	84,767,987 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCCATTCACCTTCCAGTGTCAAA -3'
(R):5'- AGGGTCTCTAGTTCCATGTTCTTGGAAA -3'

Sequencing Primer
(F):5'- cctgaaactcaacatgcagac -3'
(R):5'- GTTCTTGGAAACTTATACAGTCTCC -3'

Posted On

2014-05-14