Mutagenetix > Incidental Mutation

Incidental Mutation 'R6572:Pigs'

526292

Institutional Source

Beutler Lab

Gene Symbol

Pigs

Ensembl Gene

ENSMUSG00000041958

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class S

Synonyms

LOC276846, LOC245087

MMRRC Submission

044696-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R6572 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78219272-78233602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78230190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 319 (Y319C)

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: Y319C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: Y319C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154700

Meta Mutation Damage Score

0.5736

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (62/64)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,425,961 (GRCm39)	Q34*	probably null	Het
Adamts3	T	A	5: 90,009,468 (GRCm39)	H65L	possibly damaging	Het
Ago2	A	G	15: 72,998,826 (GRCm39)	V257A	probably benign	Het
Ahnak	A	G	19: 8,985,340 (GRCm39)	K2208R	probably damaging	Het
Apc2	C	T	10: 80,147,613 (GRCm39)	S860L	probably damaging	Het
Arhgap18	A	G	10: 26,722,412 (GRCm39)		probably null	Het
Arhgap33	T	C	7: 30,226,635 (GRCm39)	E524G	probably damaging	Het
Ascc3	C	T	10: 50,566,343 (GRCm39)	Q763*	probably null	Het
Atg2a	T	C	19: 6,304,695 (GRCm39)	L1184P	probably damaging	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Btbd17	A	T	11: 114,683,046 (GRCm39)	L222Q	probably damaging	Het
Chst13	G	T	6: 90,286,588 (GRCm39)	R125S	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Cracr2a	T	C	6: 127,585,715 (GRCm39)		probably null	Het
Dchs1	T	A	7: 105,408,013 (GRCm39)	T1940S	possibly damaging	Het
Ddit4l	G	T	3: 137,332,111 (GRCm39)	R159L	probably benign	Het
Dock3	A	G	9: 106,866,674 (GRCm39)	Y679H	probably damaging	Het
Dyrk4	T	G	6: 126,874,201 (GRCm39)	I130L	probably benign	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Ephb1	A	G	9: 101,944,097 (GRCm39)	F312L	probably benign	Het
Fndc9	A	T	11: 46,128,708 (GRCm39)	I76F	probably damaging	Het
Frk	G	A	10: 34,459,963 (GRCm39)	R186K	probably benign	Het
Gpatch3	G	T	4: 133,302,191 (GRCm39)	G41C	probably damaging	Het
Greb1l	T	A	18: 10,522,131 (GRCm39)	H633Q	probably benign	Het
Gstt4	T	A	10: 75,650,954 (GRCm39)	T223S	probably damaging	Het
Hpd	C	T	5: 123,318,739 (GRCm39)	E60K	probably benign	Het
Inpp5d	C	T	1: 87,623,118 (GRCm39)	P403S	probably damaging	Het
Klk1b9	T	A	7: 43,629,159 (GRCm39)	I189K	probably benign	Het
Kmt2e	A	T	5: 23,702,579 (GRCm39)	H239L	possibly damaging	Het
Lrriq3	A	G	3: 154,887,312 (GRCm39)	D344G	probably benign	Het
Neb	A	G	2: 52,168,859 (GRCm39)	I1892T	probably damaging	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nipal3	A	T	4: 135,174,564 (GRCm39)	S396T	probably benign	Het
Or1e35	A	G	11: 73,797,629 (GRCm39)	S230P	possibly damaging	Het
Or51q1c	T	A	7: 103,648,391 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,481,396 (GRCm39)	V264D	probably damaging	Het
Pkd2l2	T	C	18: 34,571,824 (GRCm39)	Y608H	probably damaging	Het
Ppard	G	T	17: 28,516,093 (GRCm39)	E106*	probably null	Het
Pramel11	C	T	4: 143,621,943 (GRCm39)	V471I	possibly damaging	Het
Pramel16	A	G	4: 143,676,262 (GRCm39)	S281P	probably benign	Het
Psenen	T	C	7: 30,261,773 (GRCm39)	T48A	probably benign	Het
Ralgps2	A	T	1: 156,651,620 (GRCm39)		probably null	Het
Ripk4	T	A	16: 97,547,105 (GRCm39)	R323*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Scgb2b24	T	A	7: 33,437,902 (GRCm39)	E68D	probably damaging	Het
Setx	A	G	2: 29,063,706 (GRCm39)	D2334G	possibly damaging	Het
Sh3bp4	A	G	1: 89,072,643 (GRCm39)	D497G	possibly damaging	Het
Smarca2	A	T	19: 26,656,573 (GRCm39)	I850F	possibly damaging	Het
Smyd1	A	G	6: 71,202,396 (GRCm39)	Y270H	probably damaging	Het
Spidr	T	A	16: 15,730,380 (GRCm39)		probably null	Het
Srms	T	C	2: 180,854,450 (GRCm39)	D39G	probably benign	Het
Trpc2	T	A	7: 101,739,213 (GRCm39)	I528N	probably damaging	Het
Tshr	A	G	12: 91,505,134 (GRCm39)	I691V	probably benign	Het
Urb1	A	C	16: 90,584,302 (GRCm39)	V560G	probably benign	Het
Usp37	A	G	1: 74,534,941 (GRCm39)	S2P	possibly damaging	Het
Vmn1r60	G	A	7: 5,547,599 (GRCm39)	S167F	probably benign	Het
Vmn2r89	G	A	14: 51,693,450 (GRCm39)	V267I	probably damaging	Het
Washc3	T	A	10: 88,049,568 (GRCm39)	D63E	probably benign	Het
Wdr89	A	G	12: 75,680,159 (GRCm39)	S32P	probably damaging	Het
Zfp157	T	C	5: 138,455,313 (GRCm39)	S504P	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
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'- TATGCTCCTTGACCTGGGTG -3'
(R):5'- ACCCCGATAATCTTAACAGGAGTTTTC -3'

Sequencing Primer
(F):5'- CCTTGACCTGGGTGAACCTAGAAG -3'
(R):5'- CTTGCAATAAATATGGATTCTGAGGC -3'

Posted On

2018-06-22