Mutagenetix > Incidental Mutation

Incidental Mutation 'R7851:Pigs'

606945

Institutional Source

Beutler Lab

Gene Symbol

Pigs

Ensembl Gene

ENSMUSG00000041958

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class S

Synonyms

LOC276846, LOC245087

MMRRC Submission

045904-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R7851 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78219272-78233602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78227613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 259 (L259P)

Ref Sequence

ENSEMBL: ENSMUSP00000044871 (fasta)

Gene Model

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

AlphaFold

Q6PD26

Predicted Effect

probably damaging
Transcript: ENSMUST00000048073
AA Change: L259P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: L259P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,300,838 (GRCm39)		probably null	Het
Abcc3	A	T	11: 94,250,486 (GRCm39)	L905*	probably null	Het
Adamts9	T	G	6: 92,885,687 (GRCm39)	D401A	probably damaging	Het
Ankmy1	T	C	1: 92,799,444 (GRCm39)	K918E	probably damaging	Het
Arfgef3	T	C	10: 18,468,034 (GRCm39)	N1722S	probably damaging	Het
Arhgef18	A	G	8: 3,498,409 (GRCm39)	I481V	possibly damaging	Het
Asxl3	T	C	18: 22,650,279 (GRCm39)	I756T	possibly damaging	Het
Atp6v0b	A	G	4: 117,743,062 (GRCm39)	F49S	probably damaging	Het
Baz2b	C	A	2: 59,767,060 (GRCm39)	E107D	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cd2ap	A	G	17: 43,135,363 (GRCm39)		probably null	Het
Cnn3	T	A	3: 121,250,992 (GRCm39)	Y304N	possibly damaging	Het
Cnot2	G	A	10: 116,373,337 (GRCm39)	S22L	possibly damaging	Het
Coq6	A	T	12: 84,418,929 (GRCm39)	H311L	possibly damaging	Het
Csf2rb2	T	C	15: 78,173,137 (GRCm39)	N350S	probably benign	Het
Dhrs9	T	A	2: 69,231,600 (GRCm39)	N253K	probably benign	Het
Dok7	T	A	5: 35,214,280 (GRCm39)	M1K	probably null	Het
Eogt	T	A	6: 97,097,162 (GRCm39)	E313D	probably benign	Het
Etl4	T	C	2: 20,748,951 (GRCm39)	S430P	probably damaging	Het
Gfod2	T	A	8: 106,454,762 (GRCm39)	E39D	probably benign	Het
Gfral	T	C	9: 76,112,737 (GRCm39)	N65D	probably benign	Het
Gsdmc4	A	T	15: 63,774,595 (GRCm39)	L62*	probably null	Het
Gyg1	T	G	3: 20,176,911 (GRCm39)	M360L	probably benign	Het
Hsp90ab1	A	T	17: 45,881,378 (GRCm39)	S255T	probably benign	Het
Hyal6	T	A	6: 24,734,497 (GRCm39)	D143E	probably benign	Het
Ipp	C	T	4: 116,372,672 (GRCm39)	Q234*	probably null	Het
Ism1	A	T	2: 139,599,185 (GRCm39)	D386V	probably damaging	Het
Jrkl	T	C	9: 13,244,354 (GRCm39)	T436A	probably benign	Het
Mup3	A	C	4: 62,003,494 (GRCm39)	I125S	possibly damaging	Het
Myh6	T	A	14: 55,190,508 (GRCm39)	E1003V	possibly damaging	Het
Neb	T	A	2: 52,043,076 (GRCm39)	I6785F	probably benign	Het
Odad4	C	T	11: 100,436,655 (GRCm39)	T10I	probably damaging	Het
Or11g24	A	G	14: 50,662,827 (GRCm39)	T284A	probably damaging	Het
Or11h4b	A	G	14: 50,918,915 (GRCm39)	Y59H	probably damaging	Het
Or1j4	T	A	2: 36,740,428 (GRCm39)	Y123*	probably null	Het
Or2w25	T	C	11: 59,504,789 (GRCm39)	V333A	probably benign	Het
Or6c5c	G	T	10: 129,299,429 (GRCm39)	V295L	probably benign	Het
Pamr1	A	T	2: 102,416,945 (GRCm39)	T86S	probably benign	Het
Pced1a	A	T	2: 130,264,236 (GRCm39)	M168K	probably damaging	Het
Plch1	T	C	3: 63,605,855 (GRCm39)	S1350G	probably damaging	Het
Prickle1	G	A	15: 93,398,440 (GRCm39)	T796I	possibly damaging	Het
Ptcd3	T	C	6: 71,879,843 (GRCm39)	I138M	probably damaging	Het
Ptprs	T	C	17: 56,732,482 (GRCm39)	E958G	probably benign	Het
Rcn3	A	T	7: 44,736,236 (GRCm39)	D157E	probably benign	Het
Rft1	T	C	14: 30,412,540 (GRCm39)	S534P	probably benign	Het
Ryr3	T	C	2: 112,508,862 (GRCm39)	T3371A	probably benign	Het
Scn10a	A	T	9: 119,446,828 (GRCm39)	V1399D	probably damaging	Het
Sec61a1	T	C	6: 88,489,147 (GRCm39)	T185A	probably benign	Het
Sgsm3	G	A	15: 80,894,954 (GRCm39)	V607M	probably damaging	Het
Smurf2	T	C	11: 106,721,752 (GRCm39)	Y581C	probably damaging	Het
Snx8	C	A	5: 140,343,914 (GRCm39)	V101L	probably damaging	Het
Sp100	A	T	1: 85,634,647 (GRCm39)	K180M	probably benign	Het
Spire2	T	A	8: 124,083,438 (GRCm39)		probably null	Het
St6galnac2	A	G	11: 116,576,764 (GRCm39)	S86P	probably benign	Het
Sybu	G	A	15: 44,609,852 (GRCm39)	Q139*	probably null	Het
Tas2r114	T	A	6: 131,666,888 (GRCm39)	I47F	probably damaging	Het
Tcf21	T	C	10: 22,695,747 (GRCm39)	D19G	probably benign	Het
Terb2	T	C	2: 122,016,794 (GRCm39)	F9L	probably damaging	Het
Tlr1	T	C	5: 65,082,307 (GRCm39)	T757A	possibly damaging	Het
Tmco1	C	T	1: 167,136,255 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,471,014 (GRCm39)	F1001S	probably damaging	Het
Vmn2r62	G	A	7: 42,438,539 (GRCm39)	T99I	probably benign	Het
Wdr7	A	T	18: 63,853,398 (GRCm39)	T33S	probably benign	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
R9408:Pigs	UTSW	11	78,230,213 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGATGACGTGGGATGTAG -3'
(R):5'- CATCACGCTCTGAGAGAAGG -3'

Sequencing Primer
(F):5'- GGATGTAGGCTGCCTCTTTCC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2019-12-20