Mutagenetix > Incidental Mutation

Incidental Mutation 'R9408:Pigs'

711678

Institutional Source

Beutler Lab

Gene Symbol

Pigs

Ensembl Gene

ENSMUSG00000041958

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class S

Synonyms

LOC276846, LOC245087

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R9408 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78219272-78233602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78230213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 327 (Y327H)

Ref Sequence

ENSEMBL: ENSMUSP00000044871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002127] [ENSMUST00000048073] [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 damaging
Transcript: ENSMUST00000048073
AA Change: Y327H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: Y327H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,522,030 (GRCm39)	T1264I	probably damaging	Het
Aadac	T	A	3: 59,946,986 (GRCm39)	V228E	probably benign	Het
Abca4	A	T	3: 121,931,274 (GRCm39)	R1436W	probably benign	Het
Abo	A	G	2: 26,738,287 (GRCm39)	L39S	probably benign	Het
Acnat1	T	A	4: 49,447,773 (GRCm39)	R269S	probably benign	Het
Adap2	T	C	11: 80,045,942 (GRCm39)	V74A	probably damaging	Het
Ahctf1	C	A	1: 179,603,638 (GRCm39)	A803S	possibly damaging	Het
Ak6	A	G	13: 100,792,003 (GRCm39)	S149G	probably benign	Het
Ank	T	C	15: 27,591,588 (GRCm39)	V444A	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atf7	A	C	15: 102,462,286 (GRCm39)	V112G	probably damaging	Het
Brca2	A	G	5: 150,464,982 (GRCm39)	Y1582C	probably damaging	Het
Bricd5	G	T	17: 24,693,083 (GRCm39)		probably benign	Het
Bsn	C	A	9: 108,016,652 (GRCm39)	E120*	probably null	Het
Cacna1g	T	G	11: 94,321,050 (GRCm39)	N1348T	probably damaging	Het
Ccnc	T	G	4: 21,746,776 (GRCm39)		probably null	Het
Cd163	A	G	6: 124,297,497 (GRCm39)	D881G	probably benign	Het
Cep295	G	A	9: 15,244,619 (GRCm39)	P1279L	probably benign	Het
Cic	G	A	7: 24,971,414 (GRCm39)	V382I	possibly damaging	Het
Cyp21a1	G	A	17: 35,020,860 (GRCm39)	S453F	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,646 (GRCm39)	I154N	probably benign	Het
Dbf4	A	G	5: 8,447,764 (GRCm39)	V482A	possibly damaging	Het
Dchs2	G	A	3: 83,192,573 (GRCm39)	V1673M	probably benign	Het
Dctd	T	A	8: 48,590,385 (GRCm39)	C119S	probably damaging	Het
Dock1	A	G	7: 134,717,065 (GRCm39)	T1234A	probably damaging	Het
Efcab3	T	A	11: 104,621,255 (GRCm39)		probably null	Het
Eya4	A	T	10: 22,999,805 (GRCm39)	M386K		Het
Fbxw19	T	A	9: 109,315,101 (GRCm39)	M154L	probably benign	Het
Frmpd1	T	A	4: 45,279,182 (GRCm39)	S636T	probably benign	Het
Glb1l	A	T	1: 75,177,683 (GRCm39)	Y412N	probably damaging	Het
Gnb5	T	A	9: 75,218,696 (GRCm39)	L7Q	probably damaging	Het
Gpr19	C	T	6: 134,864,704 (GRCm39)	V3M	unknown	Het
Hivep2	A	G	10: 14,007,505 (GRCm39)	T1368A	probably damaging	Het
Hmx3	A	T	7: 131,146,102 (GRCm39)	Q270L	probably damaging	Het
Il1rap	A	T	16: 26,533,675 (GRCm39)	I524F	possibly damaging	Het
Mettl17	G	A	14: 52,125,491 (GRCm39)	G198D	probably damaging	Het
Mga	T	A	2: 119,765,999 (GRCm39)	I1421N	possibly damaging	Het
Myb	T	A	10: 21,026,275 (GRCm39)	Q231L	probably benign	Het
Myef2l	T	A	3: 10,154,407 (GRCm39)	M392K	probably benign	Het
Myf5	G	A	10: 107,321,527 (GRCm39)	T89I	probably damaging	Het
Nup214	T	A	2: 31,937,523 (GRCm39)	L1999Q	probably damaging	Het
Or10aa3	T	C	1: 173,878,329 (GRCm39)	L130P		Het
Or1ad6	T	A	11: 50,860,613 (GRCm39)	L256Q	probably damaging	Het
Or4a76	A	G	2: 89,460,388 (GRCm39)	Y285H	probably damaging	Het
Or51t4	A	T	7: 102,598,443 (GRCm39)	H257L	probably damaging	Het
Or5w19	G	A	2: 87,698,379 (GRCm39)	G15R	probably damaging	Het
Or7a36	A	G	10: 78,820,220 (GRCm39)	M199V	probably benign	Het
Otog	A	T	7: 45,916,721 (GRCm39)	D886V	possibly damaging	Het
Pde7a	A	C	3: 19,287,958 (GRCm39)	V237G	possibly damaging	Het
Pkd2l2	T	C	18: 34,563,383 (GRCm39)	V478A	probably damaging	Het
Pnrc1	C	A	4: 33,246,488 (GRCm39)	G157V	probably damaging	Het
Poglut1	G	T	16: 38,347,137 (GRCm39)	S343R	probably benign	Het
Ppwd1	A	G	13: 104,346,155 (GRCm39)	M500T	possibly damaging	Het
Pyy	C	T	11: 101,998,111 (GRCm39)	G23E	probably damaging	Het
Ripor3	T	A	2: 167,831,238 (GRCm39)	D521V	probably benign	Het
Rnpepl1	T	C	1: 92,845,424 (GRCm39)	S448P	probably benign	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Synj1	C	T	16: 90,741,740 (GRCm39)	C1252Y	probably benign	Het
Tenm2	A	T	11: 35,960,246 (GRCm39)	L1027Q	probably damaging	Het
Tep1	A	G	14: 51,074,637 (GRCm39)	V1796A	possibly damaging	Het
Timp3	A	T	10: 86,136,782 (GRCm39)	E22V	possibly damaging	Het
Tlk1	A	C	2: 70,617,219 (GRCm39)		probably null	Het
Tmco1	C	A	1: 167,141,700 (GRCm39)	T69K		Het
Topaz1	T	A	9: 122,626,728 (GRCm39)	M1452K	probably benign	Het
Tsc22d2	T	C	3: 58,367,453 (GRCm39)	Y668H	unknown	Het
Uri1	A	T	7: 37,669,031 (GRCm39)	D153E	probably benign	Het
Vmn1r169	A	T	7: 23,277,342 (GRCm39)	T245S	probably damaging	Het
Vmn1r60	A	G	7: 5,547,918 (GRCm39)	Y61H		Het
Zfp541	A	T	7: 15,806,139 (GRCm39)	E91D	probably damaging	Het
Zfp946	A	G	17: 22,673,569 (GRCm39)	N108D	possibly damaging	Het
Zpr1	T	C	9: 46,186,747 (GRCm39)	L194P	probably damaging	Het
Zzef1	T	A	11: 72,755,653 (GRCm39)	N1027K	possibly 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
R1881:Pigs	UTSW	11	78,232,582 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TTCATCTGGAGGGAAGGAGC -3'
(R):5'- TGGTATATGCTCCTCCCCACAG -3'

Sequencing Primer
(F):5'- AGCCTAGCGGGAGTGTG -3'
(R):5'- CCACAGGGGAACAGATGCC -3'

Posted On

2022-05-16