Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Pigw'

158894

Institutional Source

Beutler Lab

Gene Symbol

Pigw

Ensembl Gene

ENSMUSG00000045140

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class W

Synonyms

2610044A17Rik, Gwt1

MMRRC Submission

039501-MU

Accession Numbers

Essential gene?

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

Stock #

R1446 (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 84769186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 48 (S48A)

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 benign
Transcript: ENSMUST00000067058
AA Change: S48A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: S48A

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 benign
Transcript: ENSMUST00000108080
AA Change: S48A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: S48A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141173

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Adcy4	A	T	14: 56,007,480 (GRCm39)		probably null	Het
Ahcyl2	T	C	6: 29,891,239 (GRCm39)	S448P	probably damaging	Het
Anks1b	A	G	10: 90,346,935 (GRCm39)	Y745C	probably benign	Het
Anxa1	A	T	19: 20,351,103 (GRCm39)	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,153,591 (GRCm39)	D64G	probably benign	Het
Arpc1a	A	G	5: 145,037,896 (GRCm39)		probably null	Het
Bank1	C	T	3: 135,769,904 (GRCm39)	G727R	probably damaging	Het
Best2	T	C	8: 85,734,593 (GRCm39)	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,596,189 (GRCm39)	M501L	probably benign	Het
Col27a1	T	A	4: 63,143,040 (GRCm39)	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 57,922,560 (GRCm39)	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,112,128 (GRCm39)	H139R	probably benign	Het
Dppa5a	T	A	9: 78,275,071 (GRCm39)	N77I	probably benign	Het
Edc4	T	C	8: 106,614,764 (GRCm39)	S125P	probably damaging	Het
Eid2	T	C	7: 27,968,014 (GRCm39)	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,186,328 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,017 (GRCm39)	E830G	probably benign	Het
Fyb1	A	T	15: 6,681,947 (GRCm39)	I765L	probably benign	Het
Fyn	T	G	10: 39,398,775 (GRCm39)	S124A	probably benign	Het
Gal3st3	T	A	19: 5,356,939 (GRCm39)	F105I	probably damaging	Het
Gpr146	A	G	5: 139,379,177 (GRCm39)	I326M	probably benign	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Gsn	A	G	2: 35,196,598 (GRCm39)	K669R	probably benign	Het
H2-T10	A	T	17: 36,430,266 (GRCm39)	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,286,127 (GRCm39)	H106R	probably benign	Het
Kat14	A	G	2: 144,215,638 (GRCm39)	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,361,792 (GRCm39)	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,805,525 (GRCm39)	T244I	probably damaging	Het
Klb	A	T	5: 65,506,338 (GRCm39)	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,704,727 (GRCm39)	F252L	probably benign	Het
Lum	C	T	10: 97,404,252 (GRCm39)	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,475,681 (GRCm39)	L84*	probably null	Het
Mindy2	A	G	9: 70,514,738 (GRCm39)		probably null	Het
Mpped2	G	T	2: 106,614,077 (GRCm39)	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,905,425 (GRCm39)	R2058W	probably damaging	Het
Nol8	T	A	13: 49,808,703 (GRCm39)	L65Q	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or4c108	A	G	2: 88,804,109 (GRCm39)	I42T	probably benign	Het
Or4x6	A	T	2: 89,949,202 (GRCm39)	L247M	probably damaging	Het
Or5b105	G	A	19: 13,080,380 (GRCm39)	A96V	possibly damaging	Het
Or5g9	A	G	2: 85,551,917 (GRCm39)	H56R	probably damaging	Het
Or8b3	T	G	9: 38,314,601 (GRCm39)	C144G	possibly damaging	Het
Or9a4	C	T	6: 40,548,833 (GRCm39)	S171L	probably benign	Het
Parp12	G	T	6: 39,079,495 (GRCm39)	D338E	probably benign	Het
Pde6d	T	C	1: 86,474,414 (GRCm39)	E77G	probably damaging	Het
Phkg1	A	C	5: 129,902,055 (GRCm39)		probably null	Het
Pkm	T	A	9: 59,576,193 (GRCm39)		probably null	Het
Ppp1r3f	G	A	X: 7,426,602 (GRCm39)	T553M	probably damaging	Het
Retreg2	T	A	1: 75,120,103 (GRCm39)	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,753,035 (GRCm39)	M1762K	probably benign	Het
Sec16a	A	G	2: 26,313,579 (GRCm39)	V1927A	probably benign	Het
Sec23a	G	T	12: 59,025,345 (GRCm39)	A492E	probably damaging	Het
Skint4	T	A	4: 111,975,311 (GRCm39)	H82Q	probably benign	Het
Srbd1	T	C	17: 86,446,580 (GRCm39)	K60E	probably benign	Het
Stk24	A	G	14: 121,545,456 (GRCm39)	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,726,396 (GRCm39)	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848 (GRCm39)	P757S	probably damaging	Het
Tmc2	A	T	2: 130,090,650 (GRCm39)	E665D	probably damaging	Het
Tmprss15	C	A	16: 78,875,846 (GRCm39)	D163Y	probably benign	Het
Unc13a	C	A	8: 72,101,625 (GRCm39)	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,819,496 (GRCm39)	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,645,264 (GRCm39)	M450V	possibly damaging	Het
Wars2	T	C	3: 99,094,843 (GRCm39)	I46T	probably benign	Het
Wdfy3	G	T	5: 101,999,176 (GRCm39)	T3098K	possibly damaging	Het
Zan	A	T	5: 137,387,622 (GRCm39)	I4863N	unknown	Het
Zfp616	A	G	11: 73,974,064 (GRCm39)		probably null	Het
Zfp770	A	T	2: 114,027,514 (GRCm39)	I185N	probably damaging	Het
Zfp808	T	G	13: 62,320,821 (GRCm39)	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,776,275 (GRCm39)	W1221R	probably 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
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
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'- ACTTTGGCGTAGCAAGTCCTCCTG -3'
(R):5'- GGCTTGAAGTTCTGTTCTGCCCAC -3'

Sequencing Primer
(F):5'- TCACAGTGAGATTCTCGAGGAG -3'
(R):5'- tcatcctgtgtcccccc -3'

Posted On

2014-03-14