Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01596:Pigq'

91944

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigq

Ensembl Gene

ENSMUSG00000025728

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class Q

Synonyms

Gpi1p, Gpih, Gpi1h, Gpi1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01596

Quality Score

Status

Chromosome

Chromosomal Location

26145398-26161855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26146660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 615 (H615P)

Ref Sequence

ENSEMBL: ENSMUSP00000094981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026823] [ENSMUST00000097368] [ENSMUST00000135253] [ENSMUST00000207073] [ENSMUST00000208043] [ENSMUST00000208242] [ENSMUST00000208071]

AlphaFold

Q9QYT7

Predicted Effect

probably benign
Transcript: ENSMUST00000026823
AA Change: H555P

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026823
Gene: ENSMUSG00000025728
AA Change: H555P

Domain	Start	End	E-Value	Type
low complexity region	214	228	N/A	INTRINSIC
Pfam:Gpi1	274	463	5.1e-79	PFAM
transmembrane domain	478	500	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097368
AA Change: H615P

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094981
Gene: ENSMUSG00000025728
AA Change: H615P

Domain	Start	End	E-Value	Type
low complexity region	214	228	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC
Pfam:Gpi1	365	523	8.6e-66	PFAM
transmembrane domain	538	560	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123929

Predicted Effect

probably benign
Transcript: ENSMUST00000133650

SMART Domains

Protein: ENSMUSP00000117102
Gene: ENSMUSG00000025728

Domain	Start	End	E-Value	Type
low complexity region	118	132	N/A	INTRINSIC
Pfam:Gpi1	180	367	2.4e-71	PFAM
transmembrane domain	382	404	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000135253
AA Change: H218P

SMART Domains

Protein: ENSMUSP00000122239
Gene: ENSMUSG00000025728
AA Change: H218P

Domain	Start	End	E-Value	Type
low complexity region	59	78	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148045

Predicted Effect

probably benign
Transcript: ENSMUST00000207073
AA Change: H113P

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000208043
AA Change: H555P

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

probably benign
Transcript: ENSMUST00000208242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148064

Predicted Effect

probably benign
Transcript: ENSMUST00000207496

Predicted Effect

probably benign
Transcript: ENSMUST00000208071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156924

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	T	C	3: 137,932,003 (GRCm39)	S206P	probably damaging	Het
Arhgef10	G	T	8: 15,049,468 (GRCm39)	E869*	probably null	Het
C87436	T	A	6: 86,423,201 (GRCm39)	D258E	probably damaging	Het
Casp8ap2	A	G	4: 32,646,365 (GRCm39)	K1813E	probably damaging	Het
Cd209b	T	A	8: 3,968,744 (GRCm39)	D304V	probably damaging	Het
Chmp2b	T	C	16: 65,359,363 (GRCm39)	D11G	probably benign	Het
Comp	A	G	8: 70,831,285 (GRCm39)	N384S	probably damaging	Het
Dbnl	A	G	11: 5,748,279 (GRCm39)	Y336C	probably damaging	Het
Faf2	G	T	13: 54,769,716 (GRCm39)	Q21H	probably null	Het
Fam117b	A	T	1: 59,992,130 (GRCm39)	K260*	probably null	Het
Gramd1b	A	G	9: 40,214,809 (GRCm39)	L379P	probably damaging	Het
Iars1	A	G	13: 49,856,652 (GRCm39)	N302D	probably benign	Het
Kcnh6	C	T	11: 105,917,572 (GRCm39)	T702I	probably benign	Het
Kdelr2	A	G	5: 143,398,330 (GRCm39)	Y59C	probably damaging	Het
Mgam	T	C	6: 40,635,204 (GRCm39)	Y300H	probably damaging	Het
Or3a1d	T	C	11: 74,238,245 (GRCm39)	E55G	possibly damaging	Het
Or4e1	C	T	14: 52,700,822 (GRCm39)	V215M	probably damaging	Het
Or4k40	A	G	2: 111,251,237 (GRCm39)	S20P	probably benign	Het
Pcdh17	T	C	14: 84,685,632 (GRCm39)	W700R	probably damaging	Het
Pkhd1l1	T	A	15: 44,392,806 (GRCm39)	S1714T	possibly damaging	Het
Polr1b	G	T	2: 128,952,046 (GRCm39)	R358I	probably benign	Het
Tmprss11a	C	A	5: 86,570,378 (GRCm39)	V194F	probably damaging	Het
Trhr	T	C	15: 44,092,708 (GRCm39)	I315T	probably damaging	Het
Ttc38	G	A	15: 85,720,274 (GRCm39)	V79M	possibly damaging	Het
Ubr4	T	A	4: 139,189,845 (GRCm39)		probably benign	Het
Vmn2r45	T	C	7: 8,486,272 (GRCm39)	T339A	probably damaging	Het
Vps53	A	G	11: 75,953,863 (GRCm39)	F501S	probably damaging	Het

Other mutations in Pigq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02516:Pigq	APN	17	26,156,221 (GRCm39)	missense	probably benign	0.01
R0669:Pigq	UTSW	17	26,155,736 (GRCm39)	critical splice donor site	probably null
R1830:Pigq	UTSW	17	26,153,980 (GRCm39)	missense	probably benign	0.31
R2232:Pigq	UTSW	17	26,151,183 (GRCm39)	missense	probably benign	0.00
R4904:Pigq	UTSW	17	26,150,034 (GRCm39)	unclassified	probably benign
R5008:Pigq	UTSW	17	26,153,177 (GRCm39)	missense	probably benign
R5394:Pigq	UTSW	17	26,150,446 (GRCm39)	missense	possibly damaging	0.88
R5764:Pigq	UTSW	17	26,151,093 (GRCm39)	missense	probably damaging	0.99
R6814:Pigq	UTSW	17	26,150,630 (GRCm39)	unclassified	probably benign
R6880:Pigq	UTSW	17	26,153,802 (GRCm39)	missense	probably damaging	1.00
R7198:Pigq	UTSW	17	26,153,199 (GRCm39)	missense	probably benign	0.01
R7456:Pigq	UTSW	17	26,153,580 (GRCm39)	missense	unknown
R7806:Pigq	UTSW	17	26,150,700 (GRCm39)	missense	probably benign	0.45
R7895:Pigq	UTSW	17	26,156,299 (GRCm39)	missense	probably benign	0.34
R8973:Pigq	UTSW	17	26,151,141 (GRCm39)	missense	probably damaging	0.98
R9124:Pigq	UTSW	17	26,156,233 (GRCm39)	missense	probably damaging	0.98
X0020:Pigq	UTSW	17	26,150,497 (GRCm39)	missense	probably damaging	0.96
X0067:Pigq	UTSW	17	26,153,980 (GRCm39)	missense	probably benign	0.31
Z1177:Pigq	UTSW	17	26,145,469 (GRCm39)	missense
Z1177:Pigq	UTSW	17	26,145,462 (GRCm39)	missense

Posted On

2013-12-09