Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Pigt'

601913

Institutional Source

Beutler Lab

Gene Symbol

Pigt

Ensembl Gene

ENSMUSG00000017721

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class T

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R7822 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

164497520-164508301 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT to CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT at 164499669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112577 (fasta)

Gene Model

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

AlphaFold

Q8BXQ2

Predicted Effect

probably null
Transcript: ENSMUST00000103101

SMART Domains

Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721

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

Predicted Effect

probably null
Transcript: ENSMUST00000117066

SMART Domains

Protein: ENSMUSP00000112577
Gene: ENSMUSG00000017721

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152522

SMART Domains

Protein: ENSMUSP00000115362
Gene: ENSMUSG00000017721

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,880,713	S551L	possibly damaging	Het
Arhgap8	A	C	15: 84,765,732	Y219S	probably damaging	Het
Ash1l	T	C	3: 89,007,264	S1734P	probably benign	Het
Btnl2	T	A	17: 34,363,314	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,503,545	D364G	possibly damaging	Het
Card6	T	A	15: 5,098,865	K1016N	possibly damaging	Het
Ccdc130	T	C	8: 84,261,782	E72G	probably damaging	Het
Cdh2	G	T	18: 16,624,284	N692K	probably benign	Het
Cep76	G	T	18: 67,641,149	S9*	probably null	Het
Cklf	T	C	8: 104,251,097		probably null	Het
Ctsa	T	C	2: 164,839,232	*475R	probably null	Het
Dapk1	A	C	13: 60,725,901	D406A	probably benign	Het
Ddx4	A	T	13: 112,612,113	V443D	probably damaging	Het
Dph5	C	T	3: 115,899,750	Q106*	probably null	Het
Drg2	C	T	11: 60,462,200	R220*	probably null	Het
Efcab8	A	T	2: 153,810,912	Q509L	unknown	Het
Efs	C	T	14: 54,917,450	S444N	probably benign	Het
Evl	T	C	12: 108,648,464	V58A	probably damaging	Het
Fam71b	A	G	11: 46,404,903	N34S		Het
Gbe1	G	A	16: 70,433,612	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,786	E516G	probably damaging	Het
Ghr	T	C	15: 3,457,957	T15A	probably benign	Het
Gnb4	G	A	3: 32,596,331	T50M	probably damaging	Het
Grik3	T	C	4: 125,656,397		probably null	Het
Gstk1	T	C	6: 42,247,752	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,708,406	I846F	probably damaging	Het
Itga7	A	G	10: 128,942,966	T321A	probably benign	Het
Jakmip1	A	T	5: 37,175,180	N1068I	probably damaging	Het
Krt36	A	G	11: 100,104,140	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Mast2	A	G	4: 116,312,873	L741P	probably damaging	Het
Mctp2	T	C	7: 72,127,187	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,949,036	K115*	probably null	Het
Mtf2	C	T	5: 108,080,877	R20*	probably null	Het
Mycbp2	T	G	14: 103,139,415	Q3810P	probably benign	Het
Myom2	A	T	8: 15,108,454	H802L	probably benign	Het
Naa25	A	G	5: 121,407,213	N27D	probably damaging	Het
Necab2	T	C	8: 119,454,364	F126L	probably damaging	Het
Nisch	C	G	14: 31,174,651		probably benign	Het
Nsd2	T	A	5: 33,843,594	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,538,690	L263P	probably damaging	Het
Nup210	A	G	6: 91,018,777	V922A	possibly damaging	Het
Olfr109	T	A	17: 37,467,103	M299K	probably benign	Het
Olfr1175-ps	A	C	2: 88,323,081	I208S	probably benign	Het
Olfr1458	T	A	19: 13,103,053	I84F	probably benign	Het
Pccb	C	A	9: 101,027,084	C144F	probably damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Prdm1	A	G	10: 44,458,482	V16A	probably benign	Het
Psme4	A	G	11: 30,874,245	D1743G	probably benign	Het
Rad21l	G	T	2: 151,655,125	D356E	probably benign	Het
Rars	A	G	11: 35,819,966	I322T	probably damaging	Het
Retreg2	C	A	1: 75,146,541	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,973,171	Y559C	probably damaging	Het
Ror1	T	C	4: 100,441,367	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,749,176	S45P	probably benign	Het
Sacs	G	C	14: 61,192,203	K570N	probably benign	Het
Serpinb8	C	T	1: 107,606,993	Q265*	probably null	Het
Sgo2b	T	C	8: 63,927,284	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,664,669	R141K	probably damaging	Het
Strc	G	T	2: 121,377,738	T384N	probably benign	Het
Tcaf2	T	C	6: 42,629,099	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,382,928	N243S	possibly damaging	Het
Tgm3	A	G	2: 130,041,899	I492M	probably benign	Het
Tgm7	G	A	2: 121,103,940	T157I	probably benign	Het
Trnp1	C	A	4: 133,498,039	R140L	possibly damaging	Het
Ttn	A	G	2: 76,779,433	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,333,762	S102T	probably benign	Het
Vav2	A	T	2: 27,282,287		probably null	Het
Vmn1r202	T	A	13: 22,502,071	I59F	probably damaging	Het
Zfp109	T	C	7: 24,229,145	T288A	probably benign	Het
Zscan12	T	A	13: 21,369,204	H399Q	probably damaging	Het

Other mutations in Pigt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03076:Pigt	APN	2	164497665	missense	probably damaging	1.00
BB003:Pigt	UTSW	2	164499669	frame shift	probably null
R1548:Pigt	UTSW	2	164501519	missense	probably benign	0.37
R1551:Pigt	UTSW	2	164507403	missense	probably damaging	0.99
R1605:Pigt	UTSW	2	164507499	missense	probably damaging	1.00
R3712:Pigt	UTSW	2	164501645	missense	probably benign	0.00
R3848:Pigt	UTSW	2	164498580	critical splice donor site	probably benign
R4672:Pigt	UTSW	2	164497578	unclassified	probably benign
R4719:Pigt	UTSW	2	164501624	missense	probably damaging	0.98
R5481:Pigt	UTSW	2	164506422	missense	probably damaging	1.00
R5567:Pigt	UTSW	2	164501562	nonsense	probably null
R5570:Pigt	UTSW	2	164501562	nonsense	probably null
R5998:Pigt	UTSW	2	164507454	missense	possibly damaging	0.82
R6112:Pigt	UTSW	2	164506445	nonsense	probably null
R6816:Pigt	UTSW	2	164501132	missense	probably damaging	1.00
R6889:Pigt	UTSW	2	164507331	missense	probably damaging	1.00
R7019:Pigt	UTSW	2	164499669	frame shift	probably null
R7037:Pigt	UTSW	2	164499669	frame shift	probably null
R7197:Pigt	UTSW	2	164502516	missense	probably damaging	1.00
R7288:Pigt	UTSW	2	164499669	frame shift	probably null
R7449:Pigt	UTSW	2	164502499	missense	probably damaging	1.00
R7926:Pigt	UTSW	2	164499669	frame shift	probably null
R8005:Pigt	UTSW	2	164499669	frame shift	probably null
R8019:Pigt	UTSW	2	164499669	frame shift	probably null
R8330:Pigt	UTSW	2	164499669	frame shift	probably null
R8675:Pigt	UTSW	2	164499669	frame shift	probably null
R8893:Pigt	UTSW	2	164499669	frame shift	probably null
R8968:Pigt	UTSW	2	164499669	frame shift	probably null
R9155:Pigt	UTSW	2	164499669	frame shift	probably null
R9334:Pigt	UTSW	2	164507500	makesense	probably null
R9386:Pigt	UTSW	2	164499669	frame shift	probably null
R9418:Pigt	UTSW	2	164499669	frame shift	probably null
R9426:Pigt	UTSW	2	164499669	frame shift	probably null
R9558:Pigt	UTSW	2	164499669	frame shift	probably null
R9637:Pigt	UTSW	2	164499669	frame shift	probably null
R9676:Pigt	UTSW	2	164499669	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGTTCCCAGGCAAGATGG -3'
(R):5'- AGGGATGCACAGAAGATCCC -3'

Sequencing Primer
(F):5'- TTCCCAGGCAAGATGGACACTTG -3'
(R):5'- TGCACAGAAGATCCCCGAGAG -3'

Posted On

2019-12-03