Mutagenetix > Incidental Mutation

Incidental Mutation 'R1754:Pigs'

193869

Institutional Source

Beutler Lab

Gene Symbol

Pigs

Ensembl Gene

ENSMUSG00000041958

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class S

Synonyms

LOC245087, LOC276846

MMRRC Submission

039786-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R1754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78328415-78342782 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78337847 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 293 (Y293C)

Ref Sequence

ENSEMBL: ENSMUSP00000044871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048073]

AlphaFold

Q6PD26

Predicted Effect

probably damaging
Transcript: ENSMUST00000048073
AA Change: Y293C

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

SMART Domains

Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: Y293C

Domain	Start	End	E-Value	Type
Pfam:PIG-S	22	547	3.3e-144	PFAM

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,321,031	V123A	probably damaging	Het
Abca2	T	A	2: 25,434,333	L234M	probably benign	Het
Abca3	G	A	17: 24,377,779	S402N	probably benign	Het
Acad12	A	T	5: 121,607,481	V249D	probably benign	Het
Acp4	T	C	7: 44,255,004	I212V	probably benign	Het
Actl6a	T	A	3: 32,718,574	V233D	probably damaging	Het
Aire	T	A	10: 78,030,290	Q533L	probably damaging	Het
Aldh3b3	T	C	19: 3,968,517	S411P	probably benign	Het
Amer2	A	G	14: 60,379,757	K467R	probably damaging	Het
Apol9b	A	T	15: 77,735,762	I253F	probably benign	Het
Arid1b	A	G	17: 5,279,201		probably null	Het
Atp6v0a4	T	C	6: 38,067,829	T494A	probably benign	Het
Atp6v1b2	A	G	8: 69,101,961	D106G	probably benign	Het
Avpr1b	T	C	1: 131,600,101	S121P	probably damaging	Het
Bcl11a	A	C	11: 24,164,724	E689A	probably damaging	Het
Brpf3	T	G	17: 28,821,323	L906R	probably benign	Het
Btn1a1	T	C	13: 23,460,468	K287E	probably benign	Het
Cacna1i	A	G	15: 80,371,529	H871R	probably damaging	Het
Cd14	A	T	18: 36,725,514	L296Q	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Colgalt1	G	T	8: 71,623,179	W490L	probably damaging	Het
Ctnna2	A	G	6: 77,636,749	I273T	possibly damaging	Het
Dnah7a	A	T	1: 53,504,185	D2275E	probably benign	Het
Dnah7a	A	C	1: 53,561,900		probably null	Het
Egfem1	T	C	3: 29,668,333	Y404H	possibly damaging	Het
Esm1	A	T	13: 113,216,696	N171Y	probably damaging	Het
Exoc1	T	G	5: 76,560,322		probably null	Het
Fcho1	A	G	8: 71,711,246	I580T	probably benign	Het
Fgfr1	A	G	8: 25,570,210	H552R	probably damaging	Het
Fsbp	A	G	4: 11,583,906	R202G	probably damaging	Het
Gabra6	A	G	11: 42,316,561	V231A	probably damaging	Het
Gm8765	A	T	13: 50,701,087	T254S	probably damaging	Het
Gmeb1	A	G	4: 132,232,027	S239P	probably benign	Het
Gnpat	T	A	8: 124,877,006	Y208N	probably damaging	Het
Il21	T	C	3: 37,225,525	K114R	possibly damaging	Het
Inhbc	T	C	10: 127,370,293	D35G	possibly damaging	Het
Inpp4b	A	T	8: 81,770,811	T87S	probably damaging	Het
Kcns2	T	C	15: 34,839,517	I342T	possibly damaging	Het
Ky	A	T	9: 102,541,927	T378S	possibly damaging	Het
Lcat	CAT	C	8: 105,941,814		probably null	Het
Lrrc8d	T	C	5: 105,812,657	V311A	probably benign	Het
Mief1	A	G	15: 80,249,602	I287V	probably damaging	Het
Mrpl47	A	G	3: 32,730,084	V179A	probably benign	Het
Mtcl1	T	C	17: 66,380,183	K576R	probably damaging	Het
Myh10	C	A	11: 68,813,058	A1902E	probably damaging	Het
Nlrp3	A	G	11: 59,558,402	T837A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,394	Y132H	probably damaging	Het
Oit3	T	C	10: 59,427,940		probably null	Het
Olfr1186	A	T	2: 88,525,815	R77S	probably damaging	Het
Olfr1467	T	C	19: 13,365,353	S242P	probably damaging	Het
Olfr193	T	A	16: 59,110,581	I10F	probably benign	Het
Olfr30	A	T	11: 58,455,262	M229K	probably damaging	Het
Olfr427	A	G	1: 174,100,033	T192A	probably benign	Het
Olfr533	A	T	7: 140,466,860	I220F	probably damaging	Het
Olfr8	T	A	10: 78,955,697	V164E	probably damaging	Het
Olfr825	G	A	10: 130,163,164	T54I	probably benign	Het
Pdlim4	T	C	11: 54,055,873	E196G	possibly damaging	Het
Pkd1l2	A	T	8: 117,030,719	S1527T	possibly damaging	Het
Pkd2l1	A	T	19: 44,155,601	Y344*	probably null	Het
Pmp2	T	C	3: 10,182,224		probably null	Het
Polr3e	T	C	7: 120,939,298		probably null	Het
Ppp3ca	C	G	3: 136,881,448	I230M	probably benign	Het
Ppp5c	T	C	7: 17,005,310	H463R	probably benign	Het
Ptger1	A	G	8: 83,669,297	N328D	probably benign	Het
Rhno1	A	T	6: 128,357,859	I167N	probably benign	Het
Rictor	C	A	15: 6,735,368	P34H	probably damaging	Het
Rnf10	A	C	5: 115,245,865	S630R	probably damaging	Het
Rnf168	A	G	16: 32,299,124	Q501R	probably benign	Het
Rngtt	T	G	4: 33,329,634		probably null	Het
Samd9l	G	T	6: 3,373,126	F1378L	probably damaging	Het
Slc9c1	T	A	16: 45,589,509	M864K	probably benign	Het
Slitrk5	T	C	14: 111,680,519	F525S	probably damaging	Het
Sox6	T	C	7: 115,477,055	M784V	probably benign	Het
Spint2	C	T	7: 29,260,366		probably null	Het
Ssh1	A	T	5: 113,955,845	I276N	probably damaging	Het
Trank1	T	A	9: 111,392,871	V2892D	probably benign	Het
Ttn	C	A	2: 76,751,040	E21424*	probably null	Het
Usp17lc	T	C	7: 103,418,848	I450T	probably benign	Het
Vcan	A	G	13: 89,704,735	V702A	probably benign	Het
Vmn1r36	TA	TAA	6: 66,716,533		probably null	Het
Vmn2r51	G	T	7: 10,099,946	D388E	probably benign	Het
Zfp106	G	A	2: 120,533,763	S721L	probably damaging	Het
Zfp106	A	C	2: 120,533,764	S721A	probably damaging	Het
Zfp189	T	A	4: 49,529,342	H148Q	possibly damaging	Het
Zfp352	A	T	4: 90,223,809	Y62F	probably benign	Het
Zfp839	T	C	12: 110,855,457	V235A	probably damaging	Het
Zfp871	T	C	17: 32,775,334	Y289C	probably damaging	Het

Other mutations in Pigs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02404:Pigs	APN	11	78340031	missense	probably benign
feral	UTSW	11	78336739	missense	possibly damaging	0.94
R0094:Pigs	UTSW	11	78340038	missense	probably damaging	0.98
R0490:Pigs	UTSW	11	78335625	missense	probably damaging	1.00
R1027:Pigs	UTSW	11	78336825	missense	probably damaging	1.00
R1073:Pigs	UTSW	11	78335605	missense	probably benign	0.09
R1157:Pigs	UTSW	11	78328994	missense	possibly damaging	0.87
R1881:Pigs	UTSW	11	78341756	missense	probably benign	0.00
R2171:Pigs	UTSW	11	78328812	missense	probably damaging	1.00
R2386:Pigs	UTSW	11	78332986	missense	probably damaging	1.00
R4928:Pigs	UTSW	11	78329002	missense	probably damaging	0.99
R5206:Pigs	UTSW	11	78333723	missense	probably damaging	0.98
R5480:Pigs	UTSW	11	78329075	missense	possibly damaging	0.58
R5665:Pigs	UTSW	11	78328769	splice site	probably null
R6039:Pigs	UTSW	11	78341825	missense	probably damaging	1.00
R6039:Pigs	UTSW	11	78341825	missense	probably damaging	1.00
R6159:Pigs	UTSW	11	78328500	missense	probably benign	0.01
R6572:Pigs	UTSW	11	78339364	missense	probably damaging	0.98
R6618:Pigs	UTSW	11	78341230	missense	probably damaging	1.00
R7052:Pigs	UTSW	11	78341385	missense	probably damaging	1.00
R7065:Pigs	UTSW	11	78336739	missense	possibly damaging	0.94
R7352:Pigs	UTSW	11	78328812	missense	probably damaging	1.00
R7851:Pigs	UTSW	11	78336787	missense	probably damaging	1.00
R9408:Pigs	UTSW	11	78339387	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCTGAGTGTATCTTCACACAGTCC -3'
(R):5'- GTTTGCCTCAAACAACCAAAGGAAAGG -3'

Sequencing Primer
(F):5'- GTCCCTGCACTCTTAGAGACAG -3'
(R):5'- agagagggagagggaggg -3'

Posted On

2014-05-23