Mutagenetix > Incidental Mutation

Incidental Mutation 'R1881:Pigs'

209128

Institutional Source

Beutler Lab

Gene Symbol

Pigs

Ensembl Gene

ENSMUSG00000041958

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class S

Synonyms

LOC276846, LOC245087

MMRRC Submission

039902-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R1881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78219272-78233602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78232582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 472 (V472A)

Ref Sequence

ENSEMBL: ENSMUSP00000044871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002127] [ENSMUST00000048073] [ENSMUST00000100755] [ENSMUST00000108295]

AlphaFold

Q6PD26

Predicted Effect

probably benign
Transcript: ENSMUST00000002127

SMART Domains

Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	29	54	N/A	INTRINSIC
Pfam:GMP_PDE_delta	78	237	1.6e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048073
AA Change: V472A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: V472A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100755

SMART Domains

Protein: ENSMUSP00000098318
Gene: ENSMUSG00000002058

Domain	Start	End	E-Value	Type
Pfam:GMP_PDE_delta	13	172	1.6e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108295

SMART Domains

Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	29	54	N/A	INTRINSIC
Pfam:GMP_PDE_delta	80	212	1.3e-60	PFAM
Pfam:GMP_PDE_delta	218	258	1.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154700

Meta Mutation Damage Score

0.2017

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

96% (71/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	A	11: 84,161,213 (GRCm39)	Y1026*	probably null	Het
Acaca	T	G	11: 84,191,297 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,678,503 (GRCm39)	M483I	probably damaging	Het
Adgrb2	G	A	4: 129,904,078 (GRCm39)	G735S	probably damaging	Het
Akap9	A	G	5: 4,100,173 (GRCm39)	T2612A	probably benign	Het
Armc1	A	T	3: 19,189,060 (GRCm39)	S202T	possibly damaging	Het
Arsj	T	C	3: 126,232,486 (GRCm39)	S411P	probably damaging	Het
Ash1l	T	C	3: 88,888,862 (GRCm39)	V247A	probably benign	Het
Camta2	T	C	11: 70,562,842 (GRCm39)	D935G	probably benign	Het
Cc2d2a	G	T	5: 43,898,170 (GRCm39)	V1626F	probably damaging	Het
Cpne3	T	A	4: 19,535,266 (GRCm39)	R255S	probably benign	Het
Cramp1	A	G	17: 25,196,656 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cstf3	A	T	2: 104,484,563 (GRCm39)	M396L	probably benign	Het
Ctnnd2	A	G	15: 31,005,227 (GRCm39)		probably benign	Het
Cul7	A	T	17: 46,962,888 (GRCm39)	Y173F	probably damaging	Het
Dach1	A	T	14: 98,138,832 (GRCm39)	M537K	probably benign	Het
Ddhd2	T	C	8: 26,217,727 (GRCm39)	I717V	probably damaging	Het
Dnm1	C	T	2: 32,213,742 (GRCm39)	V475I	probably damaging	Het
Dnm3	C	T	1: 162,305,517 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,405,597 (GRCm39)		probably benign	Het
Eaf2	A	T	16: 36,620,941 (GRCm39)		probably benign	Het
En1	T	A	1: 120,530,904 (GRCm39)	V48E	unknown	Het
Eral1	T	A	11: 77,966,875 (GRCm39)	H180L	possibly damaging	Het
Fry	T	A	5: 150,401,511 (GRCm39)	C2760S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ifnl2	T	A	7: 28,209,112 (GRCm39)	R68W	probably damaging	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Krtap4-1	C	T	11: 99,518,990 (GRCm39)	G7S	probably null	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mup5	C	A	4: 61,752,868 (GRCm39)	E52*	probably null	Het
Myh15	A	G	16: 48,891,446 (GRCm39)	I189V	probably damaging	Het
Nav3	T	A	10: 109,688,420 (GRCm39)	Q619L	probably damaging	Het
Or14a257	T	C	7: 86,138,646 (GRCm39)	M38V	probably benign	Het
Or1p1	A	T	11: 74,179,492 (GRCm39)	T7S	probably benign	Het
Or4n4b	A	G	14: 50,536,472 (GRCm39)	I98T	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Pam	T	C	1: 97,850,876 (GRCm39)	T161A	probably benign	Het
Phf8-ps	T	A	17: 33,284,258 (GRCm39)	D848V	probably damaging	Het
Plek	A	T	11: 16,940,111 (GRCm39)	N176K	probably benign	Het
Poc5	A	G	13: 96,535,239 (GRCm39)	N168S	probably benign	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Rttn	T	A	18: 89,033,336 (GRCm39)	S716T	probably damaging	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Slc25a20	G	A	9: 108,557,408 (GRCm39)		probably null	Het
Slc5a6	A	T	5: 31,194,155 (GRCm39)	L634Q	probably damaging	Het
Slfn3	A	G	11: 83,104,202 (GRCm39)	I235V	possibly damaging	Het
Smarcc1	T	A	9: 110,004,167 (GRCm39)	L407Q	probably damaging	Het
Spata32	T	C	11: 103,101,561 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,723,783 (GRCm39)		probably null	Het
Thada	A	G	17: 84,744,130 (GRCm39)	V726A	probably benign	Het
Tmed7	A	T	18: 46,721,622 (GRCm39)		probably null	Het
Tmem161a	G	A	8: 70,633,435 (GRCm39)	G94S	probably null	Het
Tmem81	T	A	1: 132,435,948 (GRCm39)		probably benign	Het
Trim63	C	A	4: 134,043,702 (GRCm39)	A55E	probably damaging	Het
Trmt1	A	C	8: 85,415,896 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Tshz3	T	C	7: 36,471,079 (GRCm39)	S1023P	possibly damaging	Het
Upk3bl	G	A	5: 136,086,157 (GRCm39)	R31Q	probably benign	Het
Usp40	T	C	1: 87,921,993 (GRCm39)	D290G	probably benign	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r26	T	A	6: 57,985,650 (GRCm39)	T180S	probably benign	Het
Wdr48	G	T	9: 119,738,606 (GRCm39)	V89L	probably benign	Het
Wdr6	G	T	9: 108,450,378 (GRCm39)		probably null	Het
Zfp345	A	G	2: 150,314,275 (GRCm39)	Y421H	probably damaging	Het

Other mutations in Pigs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02404:Pigs	APN	11	78,230,857 (GRCm39)	missense	probably benign
feral	UTSW	11	78,227,565 (GRCm39)	missense	possibly damaging	0.94
R0094:Pigs	UTSW	11	78,230,864 (GRCm39)	missense	probably damaging	0.98
R0490:Pigs	UTSW	11	78,226,451 (GRCm39)	missense	probably damaging	1.00
R1027:Pigs	UTSW	11	78,227,651 (GRCm39)	missense	probably damaging	1.00
R1073:Pigs	UTSW	11	78,226,431 (GRCm39)	missense	probably benign	0.09
R1157:Pigs	UTSW	11	78,219,820 (GRCm39)	missense	possibly damaging	0.87
R1754:Pigs	UTSW	11	78,228,673 (GRCm39)	missense	probably damaging	0.99
R2171:Pigs	UTSW	11	78,219,638 (GRCm39)	missense	probably damaging	1.00
R2386:Pigs	UTSW	11	78,223,812 (GRCm39)	missense	probably damaging	1.00
R4928:Pigs	UTSW	11	78,219,828 (GRCm39)	missense	probably damaging	0.99
R5206:Pigs	UTSW	11	78,224,549 (GRCm39)	missense	probably damaging	0.98
R5480:Pigs	UTSW	11	78,219,901 (GRCm39)	missense	possibly damaging	0.58
R5665:Pigs	UTSW	11	78,219,595 (GRCm39)	splice site	probably null
R6039:Pigs	UTSW	11	78,232,651 (GRCm39)	missense	probably damaging	1.00
R6039:Pigs	UTSW	11	78,232,651 (GRCm39)	missense	probably damaging	1.00
R6159:Pigs	UTSW	11	78,219,326 (GRCm39)	missense	probably benign	0.01
R6572:Pigs	UTSW	11	78,230,190 (GRCm39)	missense	probably damaging	0.98
R6618:Pigs	UTSW	11	78,232,056 (GRCm39)	missense	probably damaging	1.00
R7052:Pigs	UTSW	11	78,232,211 (GRCm39)	missense	probably damaging	1.00
R7065:Pigs	UTSW	11	78,227,565 (GRCm39)	missense	possibly damaging	0.94
R7352:Pigs	UTSW	11	78,219,638 (GRCm39)	missense	probably damaging	1.00
R7851:Pigs	UTSW	11	78,227,613 (GRCm39)	missense	probably damaging	1.00
R9408:Pigs	UTSW	11	78,230,213 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTTCAAGCTGCCCCTCAG -3'
(R):5'- TCTTAACCAGGGACAGGAGG -3'

Sequencing Primer
(F):5'- TCAGAAAATAAACAACAGCTGTGTC -3'
(R):5'- CAGGAGGATGGGCACAGC -3'

Posted On

2014-06-30