Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02888:Pigm'

363044

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigm

Ensembl Gene

ENSMUSG00000050229

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class M

Synonyms

C920011G20Rik, 4933437L05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02888

Quality Score

Status

Chromosome

Chromosomal Location

172204113-172211666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172205214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 317 (C317R)

Ref Sequence

ENSEMBL: ENSMUSP00000052838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052455] [ENSMUST00000056136]

AlphaFold

Q8C2R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000052455
AA Change: C317R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052838
Gene: ENSMUSG00000050229
AA Change: C317R

Domain	Start	End	E-Value	Type
Pfam:PIG-U	24	411	7.4e-18	PFAM
Pfam:Mannosyl_trans	140	408	9.8e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056136

SMART Domains

Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708

Domain	Start	End	E-Value	Type
Pfam:IRK	31	363	2.2e-136	PFAM

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 encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,104,610 (GRCm39)	H345R	probably damaging	Het
Afap1l1	T	A	18: 61,881,879 (GRCm39)	Y272F	probably damaging	Het
AI661453	C	A	17: 47,778,329 (GRCm39)		probably benign	Het
Ajap1	T	G	4: 153,516,718 (GRCm39)	I208L	probably benign	Het
Aldh3b2	G	A	19: 4,030,083 (GRCm39)	V356M	probably benign	Het
Angptl7	T	A	4: 148,580,788 (GRCm39)		probably benign	Het
Atp2a3	G	A	11: 72,867,954 (GRCm39)		probably benign	Het
Birc2	T	C	9: 7,819,559 (GRCm39)	D451G	probably benign	Het
Brpf3	G	A	17: 29,047,365 (GRCm39)	R1043H	probably damaging	Het
Cd177	A	G	7: 24,457,862 (GRCm39)	L132P	probably damaging	Het
Chsy3	A	G	18: 59,543,067 (GRCm39)	D735G	probably benign	Het
Cldn8	A	T	16: 88,359,271 (GRCm39)	I218K	probably benign	Het
Cltc	T	C	11: 86,648,123 (GRCm39)		probably benign	Het
Col22a1	T	C	15: 71,718,068 (GRCm39)	H619R	unknown	Het
Crxos	G	A	7: 15,636,855 (GRCm39)	E143K	possibly damaging	Het
Dcp1b	A	G	6: 119,197,048 (GRCm39)		probably benign	Het
Ddc	A	G	11: 11,772,297 (GRCm39)		probably benign	Het
Dnajc13	A	T	9: 104,057,261 (GRCm39)		probably benign	Het
Dnajc27	C	T	12: 4,139,186 (GRCm39)	H75Y	possibly damaging	Het
Fgd3	C	T	13: 49,435,292 (GRCm39)		probably null	Het
Gcc2	A	G	10: 58,130,650 (GRCm39)	D1414G	probably damaging	Het
Gtf3c2	G	A	5: 31,331,169 (GRCm39)	P169L	probably damaging	Het
Ighv1-76	T	A	12: 115,811,566 (GRCm39)	S96C	probably damaging	Het
Lmbrd1	T	A	1: 24,754,053 (GRCm39)	I206K	possibly damaging	Het
Lypd5	A	G	7: 24,052,044 (GRCm39)	S120G	probably damaging	Het
Mgat4b	T	A	11: 50,123,159 (GRCm39)	Y249N	probably damaging	Het
Msh4	A	T	3: 153,602,550 (GRCm39)	L32*	probably null	Het
Muc4	A	G	16: 32,575,656 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,177,013 (GRCm39)		probably benign	Het
Nenf	T	C	1: 191,042,118 (GRCm39)	T113A	probably benign	Het
Nup85	A	G	11: 115,469,626 (GRCm39)	D75G	possibly damaging	Het
Nutm1	A	T	2: 112,080,980 (GRCm39)	L438Q	probably damaging	Het
Oas1h	A	T	5: 120,999,610 (GRCm39)	I32F	probably benign	Het
Oasl1	G	A	5: 115,075,241 (GRCm39)	V434M	probably damaging	Het
Or2a5	A	G	6: 42,874,263 (GRCm39)	N293D	probably damaging	Het
Or9s27	T	C	1: 92,516,925 (GRCm39)	L291P	probably damaging	Het
Pde2a	C	A	7: 101,154,276 (GRCm39)	H549Q	probably damaging	Het
Phkb	G	T	8: 86,662,101 (GRCm39)		probably null	Het
Ppl	A	T	16: 4,918,271 (GRCm39)	S470R	possibly damaging	Het
Pramel14	G	A	4: 143,720,669 (GRCm39)	R91W	probably benign	Het
Slc13a4	A	T	6: 35,245,775 (GRCm39)	D623E	probably benign	Het
Stx11	A	G	10: 12,817,359 (GRCm39)	S122P	possibly damaging	Het
Sytl3	A	G	17: 7,000,483 (GRCm39)	T218A	probably benign	Het
Tango6	A	G	8: 107,447,297 (GRCm39)	D565G	probably damaging	Het
Tex14	T	C	11: 87,418,738 (GRCm39)		probably null	Het
Tinag	T	C	9: 76,938,995 (GRCm39)	D161G	probably benign	Het
Vcpip1	T	C	1: 9,795,011 (GRCm39)	D1120G	probably damaging	Het
Zfp446	G	A	7: 12,713,255 (GRCm39)	A98T	probably damaging	Het

Other mutations in Pigm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01800:Pigm	APN	1	172,204,770 (GRCm39)	missense	probably damaging	0.99
IGL02055:Pigm	APN	1	172,204,732 (GRCm39)	missense	probably benign
IGL02129:Pigm	APN	1	172,205,434 (GRCm39)	nonsense	probably null
IGL03280:Pigm	APN	1	172,204,420 (GRCm39)	missense	probably damaging	1.00
R0725:Pigm	UTSW	1	172,204,384 (GRCm39)	missense	probably damaging	1.00
R1371:Pigm	UTSW	1	172,204,381 (GRCm39)	missense	probably damaging	1.00
R1691:Pigm	UTSW	1	172,204,354 (GRCm39)	missense	probably benign	0.30
R1991:Pigm	UTSW	1	172,204,828 (GRCm39)	missense	probably damaging	1.00
R2089:Pigm	UTSW	1	172,205,100 (GRCm39)	missense	probably damaging	1.00
R2091:Pigm	UTSW	1	172,205,100 (GRCm39)	missense	probably damaging	1.00
R2091:Pigm	UTSW	1	172,205,100 (GRCm39)	missense	probably damaging	1.00
R5718:Pigm	UTSW	1	172,205,012 (GRCm39)	splice site	probably null
R6640:Pigm	UTSW	1	172,205,254 (GRCm39)	missense	probably damaging	1.00
R7070:Pigm	UTSW	1	172,205,233 (GRCm39)	missense	probably damaging	0.98
R8273:Pigm	UTSW	1	172,205,524 (GRCm39)	missense	probably benign	0.27
R8883:Pigm	UTSW	1	172,205,085 (GRCm39)	missense	probably damaging	1.00
X0003:Pigm	UTSW	1	172,204,303 (GRCm39)	missense	probably benign

Posted On

2015-12-18