Mutagenetix > Incidental Mutation

Incidental Mutation 'R4672:Pigt'

348501

Institutional Source

Beutler Lab

Gene Symbol

Pigt

Ensembl Gene

ENSMUSG00000017721

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class T

Synonyms

Ndap7, CGI-06, 4930534E15Rik, NDAP, 2510012P17Rik

MMRRC Submission

041927-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R4672 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

164339461-164350221 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 164339498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103101] [ENSMUST00000109349] [ENSMUST00000117066]

AlphaFold

Q8BXQ2

Predicted Effect

unknown
Transcript: ENSMUST00000103101
AA Change: L7P

SMART Domains

Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721
AA Change: L7P

Domain	Start	End	E-Value	Type
Pfam:Gpi16	22	576	4.9e-155	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109349

SMART Domains

Protein: ENSMUSP00000104973
Gene: ENSMUSG00000017734

Domain	Start	End	E-Value	Type
Pfam:Dysbindin	4	141	1.1e-33	PFAM
low complexity region	143	156	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000117066
AA Change: L7P

SMART Domains

Protein: ENSMUSP00000112577
Gene: ENSMUSG00000017721
AA Change: L7P

Domain	Start	End	E-Value	Type
Pfam:Gpi16	11	419	4.9e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138038

Predicted Effect

unknown
Transcript: ENSMUST00000152522
AA Change: L6P

SMART Domains

Protein: ENSMUSP00000115362
Gene: ENSMUSG00000017721
AA Change: L6P

Domain	Start	End	E-Value	Type
Pfam:Gpi16	21	134	2.7e-28	PFAM

Meta Mutation Damage Score

0.5748

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (113/115)

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 glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is 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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null mutation do not survive. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,962,702 (GRCm39)	L483F	possibly damaging	Het
Abca8b	A	G	11: 109,827,274 (GRCm39)	F1507L	possibly damaging	Het
Adamdec1	C	A	14: 68,815,353 (GRCm39)	E104*	probably null	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alppl2	T	C	1: 87,017,187 (GRCm39)		probably benign	Het
Aplnr	A	G	2: 84,967,524 (GRCm39)	Y183C	probably damaging	Het
Atm	G	A	9: 53,433,501 (GRCm39)	R250W	probably damaging	Het
B4galt7	T	C	13: 55,757,132 (GRCm39)	L275P	probably damaging	Het
Bltp1	A	G	3: 36,944,139 (GRCm39)	*330W	probably null	Het
Ccdc178	G	A	18: 22,283,501 (GRCm39)	Q10*	probably null	Het
Ccr9	T	C	9: 123,608,752 (GRCm39)	Y145H	probably damaging	Het
Cd209f	C	T	8: 4,153,685 (GRCm39)	G188D	probably damaging	Het
Cep70	T	A	9: 99,136,365 (GRCm39)	S23T	possibly damaging	Het
Cpped1	C	A	16: 11,623,238 (GRCm39)	E294*	probably null	Het
Crisp1	T	A	17: 40,605,404 (GRCm39)		probably null	Het
Disp1	T	C	1: 182,880,215 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,935,743 (GRCm39)	M624L	probably damaging	Het
Elf2	A	G	3: 51,163,855 (GRCm39)	V558A	probably damaging	Het
Eno2	T	C	6: 124,743,109 (GRCm39)	D209G	probably damaging	Het
Fam187b	G	A	7: 30,676,968 (GRCm39)	R159H	probably damaging	Het
Fh1	G	A	1: 175,431,617 (GRCm39)	A423V	probably benign	Het
Frg1	C	T	8: 41,853,846 (GRCm39)	D164N	probably benign	Het
Fsbp	T	G	4: 11,579,841 (GRCm39)	N36K	probably benign	Het
Gcn1	A	G	5: 115,744,579 (GRCm39)	T1592A	probably damaging	Het
Gimap3	A	G	6: 48,742,687 (GRCm39)	I81T	probably damaging	Het
Gjb6	C	T	14: 57,362,235 (GRCm39)	V9I	probably benign	Het
Gkap1	T	C	13: 58,411,770 (GRCm39)	S68G	possibly damaging	Het
Gpatch8	A	T	11: 102,369,784 (GRCm39)	S1251R	probably damaging	Het
Gria4	A	G	9: 4,664,981 (GRCm39)	F92L	possibly damaging	Het
H2-Q1	C	A	17: 35,539,906 (GRCm39)	D58E	probably damaging	Het
Hs1bp3	G	T	12: 8,391,983 (GRCm39)	G362*	probably null	Het
Igfn1	T	A	1: 135,893,107 (GRCm39)	H2114L	possibly damaging	Het
Igkv12-98	A	G	6: 68,547,940 (GRCm39)	Q22R	probably benign	Het
Ing3	A	G	6: 21,965,729 (GRCm39)		probably null	Het
Insr	C	T	8: 3,217,501 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,941,630 (GRCm39)	S374P	probably benign	Het
Kif14	A	C	1: 136,449,016 (GRCm39)	Q1472P	probably benign	Het
Kif14	G	T	1: 136,449,017 (GRCm39)	Q1472H	probably benign	Het
Knstrn	A	G	2: 118,664,512 (GRCm39)	E202G	probably damaging	Het
Knstrn	G	T	2: 118,664,513 (GRCm39)	E202D	possibly damaging	Het
Krt12	A	G	11: 99,309,509 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,771,897 (GRCm39)	I195F	possibly damaging	Het
Lima1	T	C	15: 99,741,590 (GRCm39)	N29D	probably damaging	Het
Liph	T	C	16: 21,802,806 (GRCm39)	I88V	probably benign	Het
Lrrk1	A	G	7: 65,929,120 (GRCm39)	S86P	probably benign	Het
Lsamp	A	G	16: 41,775,697 (GRCm39)	R166G	probably damaging	Het
Mamdc2	T	A	19: 23,328,148 (GRCm39)	N407Y	probably damaging	Het
Mast3	CATA	CA	8: 71,237,441 (GRCm39)		probably null	Het
Megf6	T	A	4: 154,333,909 (GRCm39)	N212K	probably damaging	Het
Met	A	C	6: 17,571,803 (GRCm39)	D1374A	probably benign	Het
Mrc2	A	G	11: 105,233,923 (GRCm39)	T902A	probably benign	Het
Mroh3	T	A	1: 136,118,713 (GRCm39)	T535S	probably benign	Het
Muc1	G	T	3: 89,139,384 (GRCm39)	V595L	probably damaging	Het
Myh2	T	A	11: 67,079,303 (GRCm39)	L957Q	probably damaging	Het
Myorg	T	A	4: 41,499,061 (GRCm39)	M190L	probably benign	Het
Ncl	A	T	1: 86,284,324 (GRCm39)	D257E	probably benign	Het
Nipbl	T	A	15: 8,332,468 (GRCm39)	D2263V	probably damaging	Het
Optc	C	A	1: 133,825,555 (GRCm39)	V324L	possibly damaging	Het
Or4k15	A	G	14: 50,364,714 (GRCm39)	N227D	probably benign	Het
Or4k42	A	T	2: 111,319,902 (GRCm39)	N200K	possibly damaging	Het
Or7g35	A	G	9: 19,496,726 (GRCm39)	K298E	possibly damaging	Het
Osbpl9	A	G	4: 108,921,806 (GRCm39)	I604T	possibly damaging	Het
Otog	C	A	7: 45,939,210 (GRCm39)	A2080D	probably damaging	Het
Parp6	G	C	9: 59,547,393 (GRCm39)	R460P	probably damaging	Het
Phactr4	G	T	4: 132,098,017 (GRCm39)	P417Q	probably damaging	Het
Plekha5	A	G	6: 140,470,655 (GRCm39)	I99V	probably damaging	Het
Plxna3	T	G	X: 73,382,554 (GRCm39)		probably null	Het
Ppp2r1b	G	A	9: 50,779,019 (GRCm39)	M362I	probably damaging	Het
Pramel34	T	A	5: 93,784,182 (GRCm39)	R230S	probably damaging	Het
Rad51	A	G	2: 118,954,327 (GRCm39)	I136V	probably benign	Het
Rad54b	T	A	4: 11,609,449 (GRCm39)	H633Q	probably benign	Het
Rasal2	A	G	1: 157,071,231 (GRCm39)	F41S	probably benign	Het
Reep3	T	A	10: 66,857,629 (GRCm39)	H154L	probably benign	Het
Rp1l1	T	G	14: 64,268,719 (GRCm39)	V1435G	probably damaging	Het
Rps6ka5	C	A	12: 100,620,546 (GRCm39)	K125N	possibly damaging	Het
Rsad1	A	T	11: 94,434,444 (GRCm39)	M330K	probably damaging	Het
Scand1	A	G	2: 156,153,850 (GRCm39)		probably null	Het
Setd6	A	G	8: 96,444,640 (GRCm39)	H111R	probably null	Het
Slc27a3	T	C	3: 90,294,953 (GRCm39)	N368S	possibly damaging	Het
Slc38a2	T	C	15: 96,596,518 (GRCm39)	T32A	probably benign	Het
Smg7	A	G	1: 152,721,164 (GRCm39)	S683P	probably damaging	Het
Smyd2	A	T	1: 189,642,101 (GRCm39)	L62M	probably damaging	Het
Sox5	T	C	6: 143,779,075 (GRCm39)	Y687C	probably damaging	Het
Spaca6	T	A	17: 18,057,005 (GRCm39)	C53*	probably null	Het
Spata31e4	T	C	13: 50,857,208 (GRCm39)	Y949H	probably benign	Het
Spire2	T	C	8: 124,084,850 (GRCm39)	V230A	probably benign	Het
Sptbn2	G	T	19: 4,782,524 (GRCm39)	V487L	probably benign	Het
Stk3	T	A	15: 35,099,603 (GRCm39)	I110L	probably benign	Het
Stox2	T	A	8: 47,645,141 (GRCm39)	Y773F	probably damaging	Het
Tbrg1	C	A	9: 37,562,632 (GRCm39)	A259S	probably damaging	Het
Tnfsf18	C	A	1: 161,331,307 (GRCm39)	D152E	probably benign	Het
Tpr	G	A	1: 150,299,318 (GRCm39)	A1173T	probably benign	Het
Trrap	T	C	5: 144,722,290 (GRCm39)	L271P	probably damaging	Het
Ttn	G	T	2: 76,657,419 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,198 (GRCm39)	S192P	possibly damaging	Het
Ubr4	C	T	4: 139,138,027 (GRCm39)	S1128L	probably damaging	Het
Ucma	G	A	2: 4,981,465 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,569,522 (GRCm39)	D1401E	probably benign	Het
Usp54	A	T	14: 20,631,597 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,056 (GRCm39)	Y270H	probably damaging	Het
Vmn1r90	T	A	7: 14,295,493 (GRCm39)	T202S	probably benign	Het
Vmn2r88	A	G	14: 51,655,612 (GRCm39)	Y616C	probably damaging	Het
Vmn2r95	T	A	17: 18,672,413 (GRCm39)	W717R	probably damaging	Het
Zcchc4	C	A	5: 52,953,947 (GRCm39)	T209K	probably benign	Het
Zfp955b	T	A	17: 33,524,233 (GRCm39)		probably benign	Het

Other mutations in Pigt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03076:Pigt	APN	2	164,339,585 (GRCm39)	missense	probably damaging	1.00
BB003:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R1548:Pigt	UTSW	2	164,343,439 (GRCm39)	missense	probably benign	0.37
R1551:Pigt	UTSW	2	164,349,323 (GRCm39)	missense	probably damaging	0.99
R1605:Pigt	UTSW	2	164,349,419 (GRCm39)	missense	probably damaging	1.00
R3712:Pigt	UTSW	2	164,343,565 (GRCm39)	missense	probably benign	0.00
R3848:Pigt	UTSW	2	164,340,500 (GRCm39)	critical splice donor site	probably benign
R4719:Pigt	UTSW	2	164,343,544 (GRCm39)	missense	probably damaging	0.98
R5481:Pigt	UTSW	2	164,348,342 (GRCm39)	missense	probably damaging	1.00
R5567:Pigt	UTSW	2	164,343,482 (GRCm39)	nonsense	probably null
R5570:Pigt	UTSW	2	164,343,482 (GRCm39)	nonsense	probably null
R5998:Pigt	UTSW	2	164,349,374 (GRCm39)	missense	possibly damaging	0.82
R6112:Pigt	UTSW	2	164,348,365 (GRCm39)	nonsense	probably null
R6816:Pigt	UTSW	2	164,343,052 (GRCm39)	missense	probably damaging	1.00
R6889:Pigt	UTSW	2	164,349,251 (GRCm39)	missense	probably damaging	1.00
R7019:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R7037:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R7197:Pigt	UTSW	2	164,344,436 (GRCm39)	missense	probably damaging	1.00
R7288:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R7449:Pigt	UTSW	2	164,344,419 (GRCm39)	missense	probably damaging	1.00
R7822:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R7926:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R8005:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R8019:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R8330:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R8675:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R8893:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R8968:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R9155:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R9334:Pigt	UTSW	2	164,349,420 (GRCm39)	makesense	probably null
R9386:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R9418:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R9426:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R9558:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R9637:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null
R9676:Pigt	UTSW	2	164,341,589 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACGATCTGTTGACGGACCTC -3'
(R):5'- CTTTAGGAACTGAGCAAGGTGCTG -3'

Sequencing Primer
(F):5'- CCGTGTCCCTCCGGTAAC -3'
(R):5'- AAGGTGCTGCAGACATTTTCC -3'

Posted On

2015-10-08