Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02662:Pigx'

302597

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigx

Ensembl Gene

ENSMUSG00000023791

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class X

Synonyms

2010319C14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL02662

Quality Score

Status

Chromosome

Chromosomal Location

31903234-31918545 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31906201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 40 (V40A)

Ref Sequence

ENSEMBL: ENSMUSP00000156144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096109] [ENSMUST00000133584] [ENSMUST00000136643] [ENSMUST00000147003] [ENSMUST00000147688] [ENSMUST00000155966] [ENSMUST00000189013] [ENSMUST00000215073] [ENSMUST00000232321]

AlphaFold

Q99LV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000096109
AA Change: V144A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093819
Gene: ENSMUSG00000023791
AA Change: V144A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PIG-X	49	249	3.24e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133584

SMART Domains

Protein: ENSMUSP00000119754
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135677

Predicted Effect

probably benign
Transcript: ENSMUST00000136643

SMART Domains

Protein: ENSMUSP00000118256
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143011

Predicted Effect

probably benign
Transcript: ENSMUST00000147003

SMART Domains

Protein: ENSMUSP00000120272
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147688

SMART Domains

Protein: ENSMUSP00000121801
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PIG-X	49	105	1.6e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155966
AA Change: V142A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114854
Gene: ENSMUSG00000023791
AA Change: V142A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PIG-X	47	247	3.24e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000189013
AA Change: V142A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141122
Gene: ENSMUSG00000023791
AA Change: V142A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PIG-X	47	247	3.24e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151250

Predicted Effect

probably damaging
Transcript: ENSMUST00000215073
AA Change: V144A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232321
AA Change: V40A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	G	15: 64,618,744 (GRCm39)		probably null	Het
Ap5z1	G	A	5: 142,462,644 (GRCm39)		probably null	Het
Cdhr5	T	G	7: 140,854,416 (GRCm39)	I120L	possibly damaging	Het
Chd5	C	T	4: 152,456,588 (GRCm39)	S975F	probably damaging	Het
Cts3	G	T	13: 61,715,871 (GRCm39)	Q132K	probably damaging	Het
Cylc2	T	A	4: 51,216,698 (GRCm39)		probably benign	Het
Defb39	A	G	8: 19,102,891 (GRCm39)	V68A	probably benign	Het
Dgki	A	G	6: 36,839,421 (GRCm39)		probably benign	Het
Dhtkd1	G	A	2: 5,904,783 (GRCm39)	P867L	probably damaging	Het
Gata5	C	T	2: 179,969,544 (GRCm39)		probably benign	Het
Glt28d2	T	A	3: 85,779,423 (GRCm39)	I17F	probably damaging	Het
Gstm2	T	C	3: 107,892,378 (GRCm39)	Y82C	possibly damaging	Het
Hs6st1	T	A	1: 36,142,893 (GRCm39)	L276*	probably null	Het
Iqgap1	T	C	7: 80,392,827 (GRCm39)	D712G	probably benign	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Ksr1	G	A	11: 78,927,551 (GRCm39)	T289I	probably damaging	Het
Lingo4	T	C	3: 94,309,124 (GRCm39)		probably benign	Het
Ncapd2	A	G	6: 125,153,694 (GRCm39)	S674P	probably damaging	Het
Nek1	G	A	8: 61,557,218 (GRCm39)	V841I	probably benign	Het
Or10a48	T	C	7: 108,424,952 (GRCm39)	T85A	probably benign	Het
Or8i2	T	C	2: 86,852,346 (GRCm39)	T181A	probably benign	Het
Pla2g2d	T	G	4: 138,506,006 (GRCm39)	M5R	possibly damaging	Het
Ppa2	G	T	3: 133,073,644 (GRCm39)	R234I	probably damaging	Het
Rbms1	A	C	2: 60,592,650 (GRCm39)	L221R	probably damaging	Het
Rnasel	C	A	1: 153,629,857 (GRCm39)	N124K	probably damaging	Het
Serpinb9h	A	G	13: 33,588,513 (GRCm39)	N366S	possibly damaging	Het
Sigirr	T	A	7: 140,674,707 (GRCm39)		probably benign	Het
Tas2r136	A	T	6: 132,754,671 (GRCm39)	V152E	probably damaging	Het
Tlnrd1	C	T	7: 83,532,027 (GRCm39)	V135M	possibly damaging	Het
Tlnrd1	A	G	7: 83,531,744 (GRCm39)	L229S	probably damaging	Het
Top1mt	A	G	15: 75,540,554 (GRCm39)	V239A	probably damaging	Het
Tpd52	A	T	3: 9,009,775 (GRCm39)		probably null	Het
Trim16	T	A	11: 62,731,383 (GRCm39)	L331Q	possibly damaging	Het
Ttll4	A	G	1: 74,726,390 (GRCm39)		probably null	Het
Vmn1r27	T	A	6: 58,192,272 (GRCm39)	D244V	probably damaging	Het
Vmn2r72	A	C	7: 85,387,391 (GRCm39)	D724E	probably benign	Het
Zfp563	T	C	17: 33,321,253 (GRCm39)	W18R	probably damaging	Het
Zswim8	T	C	14: 20,763,142 (GRCm39)	V347A	probably benign	Het

Other mutations in Pigx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01998:Pigx	APN	16	31,903,428 (GRCm39)	missense	probably benign	0.43
F5770:Pigx	UTSW	16	31,906,240 (GRCm39)	missense	probably damaging	1.00
R1682:Pigx	UTSW	16	31,906,268 (GRCm39)	missense	possibly damaging	0.91
R6195:Pigx	UTSW	16	31,903,404 (GRCm39)	missense	probably damaging	0.99
R6379:Pigx	UTSW	16	31,903,341 (GRCm39)	missense	probably damaging	1.00
R6521:Pigx	UTSW	16	31,906,129 (GRCm39)	missense	probably damaging	1.00
R9437:Pigx	UTSW	16	31,918,310 (GRCm39)	missense	probably benign	0.05
V7580:Pigx	UTSW	16	31,906,240 (GRCm39)	missense	probably damaging	1.00
V7583:Pigx	UTSW	16	31,906,240 (GRCm39)	missense	probably damaging	1.00
Z1176:Pigx	UTSW	16	31,906,243 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16