Mutagenetix > Incidental Mutation

Incidental Mutation 'R7436:Pigw'

580567

Institutional Source

Beutler Lab

Gene Symbol

Pigw

Ensembl Gene

ENSMUSG00000045140

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class W

Synonyms

2610044A17Rik, Gwt1

MMRRC Submission

045512-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R7436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84767141-84771111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84768789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 180 (M180K)

Ref Sequence

ENSEMBL: ENSMUSP00000064547 (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: M180K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: M180K

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: M180K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: M180K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,805,178 (GRCm39)		probably null	Het
2310034C09Rik	A	G	16: 88,556,242 (GRCm39)	Y152C	probably benign	Het
Acads	C	A	5: 115,249,057 (GRCm39)	Q365H	probably damaging	Het
Akap1	A	G	11: 88,736,354 (GRCm39)	S103P	probably damaging	Het
Ampd1	T	A	3: 102,981,435 (GRCm39)		probably null	Het
Apoa1	T	A	9: 46,141,100 (GRCm39)		probably null	Het
Asb16	A	G	11: 102,163,481 (GRCm39)	D157G	possibly damaging	Het
Bank1	T	C	3: 135,761,561 (GRCm39)	N748D	possibly damaging	Het
BC034090	C	A	1: 155,102,127 (GRCm39)	G46W	probably damaging	Het
Ccdc202	A	T	14: 96,120,027 (GRCm39)	K261N	probably benign	Het
Ccdc73	T	A	2: 104,782,214 (GRCm39)	V190E	probably damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyb561a3	A	G	19: 10,559,696 (GRCm39)	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 26,857,668 (GRCm39)	D427V	probably damaging	Het
Cyp4f14	T	C	17: 33,128,131 (GRCm39)	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,087,447 (GRCm39)	T510A	probably benign	Het
Dennd6a	G	T	14: 26,300,865 (GRCm39)	E26*	probably null	Het
Dusp10	T	C	1: 183,801,418 (GRCm39)	I395T	probably damaging	Het
Dzip3	T	A	16: 48,772,352 (GRCm39)	H439L	probably damaging	Het
Heatr5b	T	A	17: 79,075,962 (GRCm39)	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,619,112 (GRCm39)	F278L	probably benign	Het
Hspg2	T	A	4: 137,242,975 (GRCm39)	M702K	probably damaging	Het
Hydin	T	C	8: 111,310,546 (GRCm39)	F4081L	probably damaging	Het
Ido1	T	G	8: 25,076,932 (GRCm39)	T209P	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ipo8	T	C	6: 148,691,303 (GRCm39)	Y689C	probably benign	Het
Macf1	C	T	4: 123,350,436 (GRCm39)	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228 (GRCm39)	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,971,036 (GRCm39)	T1014A	probably benign	Het
Nek5	A	G	8: 22,598,056 (GRCm39)	F200L	probably damaging	Het
Nipal1	A	G	5: 72,824,984 (GRCm39)	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159 (GRCm39)	N80I	probably damaging	Het
Nmur1	G	A	1: 86,314,100 (GRCm39)	P389S	probably benign	Het
Or10d5	G	T	9: 39,861,349 (GRCm39)	C239*	probably null	Het
Or1p1	T	C	11: 74,179,511 (GRCm39)	L13P	possibly damaging	Het
Or8u10	T	C	2: 85,915,251 (GRCm39)	Y290C	probably damaging	Het
Patl2	A	C	2: 121,958,006 (GRCm39)	V84G	probably benign	Het
Pcdhb4	T	C	18: 37,442,328 (GRCm39)	V546A	probably damaging	Het
Phf20l1	G	T	15: 66,469,599 (GRCm39)	S168I	possibly damaging	Het
Phgdh	T	C	3: 98,247,045 (GRCm39)	N35S	probably benign	Het
Pkhd1	G	T	1: 20,270,925 (GRCm39)	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,624,861 (GRCm39)	F436L	probably damaging	Het
Plch2	T	C	4: 155,068,553 (GRCm39)	T1358A	probably benign	Het
Poll	C	T	19: 45,541,496 (GRCm39)	V491M	probably damaging	Het
Polr1e	A	G	4: 45,024,553 (GRCm39)		probably null	Het
Ppp1r35	G	A	5: 137,778,279 (GRCm39)	W258*	probably null	Het
Ptpdc1	A	T	13: 48,740,142 (GRCm39)	F430I	probably benign	Het
Ptprh	T	C	7: 4,555,742 (GRCm39)	E739G	probably damaging	Het
Ramp2	T	C	11: 101,138,765 (GRCm39)	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,501,747 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,627,593 (GRCm39)		probably null	Het
Rnf39	A	T	17: 37,254,241 (GRCm39)	S88C	probably benign	Het
Rpl12	A	G	2: 32,853,836 (GRCm39)	I155V	probably benign	Het
Scart2	A	T	7: 139,841,520 (GRCm39)	T275S	probably benign	Het
Senp5	C	T	16: 31,794,847 (GRCm39)	E596K	unknown	Het
Serpinb9d	A	G	13: 33,379,916 (GRCm39)	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,307,142 (GRCm39)	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,068,404 (GRCm39)		probably null	Het
Spatc1	A	T	15: 76,152,568 (GRCm39)	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Traf3ip1	A	G	1: 91,439,110 (GRCm39)	D342G	probably benign	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ube2j2	T	C	4: 156,041,788 (GRCm39)	V249A	probably damaging	Het
Utrn	A	C	10: 12,315,535 (GRCm39)	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,337,862 (GRCm39)	M168L	probably benign	Het
Vmn1r77	T	A	7: 11,775,694 (GRCm39)	S157T	probably benign	Het
Zfp977	A	G	7: 42,229,884 (GRCm39)	S214P	probably benign	Het
Zscan10	T	C	17: 23,828,979 (GRCm39)	L507P	possibly damaging	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
R1692:Pigw	UTSW	11	84,767,892 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCCAGTGAATGCCGTACTC -3'
(R):5'- ACTTGCTACGCCAAAGTGCC -3'

Sequencing Primer
(F):5'- ACTCGGTAGAATGTTCCTGGTAGC -3'
(R):5'- CAAAGTGCCTGTCCAGAAAGTCTTTG -3'

Posted On

2019-10-07