Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03136:Pigw'

410525

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigw

Ensembl Gene

ENSMUSG00000045140

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class W

Synonyms

2610044A17Rik, Gwt1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

84876315-84880285 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84877777 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 242 (I242T)

Ref Sequence

ENSEMBL: ENSMUSP00000103715 (fasta)

Gene Model

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

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: I242T

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: I242T

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: I242T

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: I242T

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: ENSMUST00000141173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141705

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 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,769,122	L7S	unknown	Het
Abr	C	T	11: 76,425,295	W571*	probably null	Het
Adam18	A	T	8: 24,641,836	C420S	probably damaging	Het
Akap5	G	T	12: 76,329,875	E694*	probably null	Het
Bbs1	T	C	19: 4,890,991	K565R	probably benign	Het
Brix1	A	G	15: 10,478,766	F189S	probably damaging	Het
Cnot4	C	A	6: 35,051,241	R480L	probably damaging	Het
Ctu2	A	G	8: 122,479,201		probably benign	Het
Dhcr7	A	G	7: 143,847,366	H422R	probably damaging	Het
Dock1	A	G	7: 135,168,389	M1793V	probably benign	Het
Dock7	A	G	4: 99,003,791	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,340,229		probably benign	Het
Ftsj3	C	T	11: 106,253,813	D117N	probably damaging	Het
Gphn	A	G	12: 78,481,333	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,852,985	A230V	probably damaging	Het
Hydin	G	A	8: 110,418,524	A836T	probably benign	Het
Ift52	G	T	2: 163,025,334	E71*	probably null	Het
Ms4a14	T	C	19: 11,304,411	D261G	possibly damaging	Het
Nid1	G	A	13: 13,500,499	V935I	probably benign	Het
Nrap	T	C	19: 56,342,255	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,028,861	V1340G	probably benign	Het
Olfr1442	T	A	19: 12,674,967	I254N	probably damaging	Het
Olfr169	A	T	16: 19,566,353	F177I	probably damaging	Het
Olfr974	T	C	9: 39,943,036	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,499	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,433,439	V80A	possibly damaging	Het
Prtg	T	G	9: 72,856,985	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,543,463	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,544,918	R577H	probably damaging	Het
Ryr3	G	A	2: 112,675,974		probably benign	Het
Selenoi	T	C	5: 30,257,727	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,310,765	C343R	probably benign	Het
Smurf2	A	T	11: 106,831,048	D527E	probably benign	Het
Spam1	C	T	6: 24,797,011		probably benign	Het
Stkld1	T	C	2: 26,951,423	V460A	probably benign	Het
Tgoln1	G	A	6: 72,614,113	R339W	probably damaging	Het
Tprg	T	C	16: 25,412,762		probably benign	Het
Treml1	T	G	17: 48,364,851		probably benign	Het
Ttc39b	A	T	4: 83,237,280	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,249,763	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 86,148,703	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,950,310	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,585,956	C87R	probably damaging	Het
Zfp790	T	A	7: 29,829,895	Y668*	probably null	Het

Other mutations in Pigw

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Pigw	APN	11	84877888	missense	possibly damaging	0.57
IGL00778:Pigw	APN	11	84877324	missense	possibly damaging	0.64
IGL01062:Pigw	APN	11	84877943	missense	probably benign	0.00
IGL02741:Pigw	APN	11	84878366	missense	probably benign
R0959:Pigw	UTSW	11	84878207	missense	probably benign	0.17
R1446:Pigw	UTSW	11	84878360	missense	probably benign	0.04
R1692:Pigw	UTSW	11	84877066	missense	probably damaging	1.00
R1851:Pigw	UTSW	11	84878048	missense	probably damaging	1.00
R2061:Pigw	UTSW	11	84877310	missense	probably benign	0.00
R3617:Pigw	UTSW	11	84878307	missense	probably damaging	0.98
R3693:Pigw	UTSW	11	84878383	missense	probably benign	0.09
R7136:Pigw	UTSW	11	84877759	missense	probably damaging	1.00
R7312:Pigw	UTSW	11	84877759	missense	probably damaging	1.00
R7317:Pigw	UTSW	11	84877240	missense	probably benign	0.00
R7336:Pigw	UTSW	11	84877104	missense	probably damaging	1.00
R7436:Pigw	UTSW	11	84877963	missense	probably damaging	0.97
R8002:Pigw	UTSW	11	84878423	missense	probably benign	0.03
R8265:Pigw	UTSW	11	84880021	intron	probably benign
RF009:Pigw	UTSW	11	84877161	missense	probably damaging	1.00

Posted On

2016-08-02