Mutagenetix > Incidental Mutation

Incidental Mutation 'R1605:Pigt'

176379

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

039642-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R1605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164339461-164350221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 164349419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 574 (R574P)

Ref Sequence

ENSEMBL: ENSMUSP00000099390 (fasta)

Gene Model

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

AlphaFold

Q8BXQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000103101
AA Change: R574P

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

SMART Domains

Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721
AA Change: R574P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117066

SMART Domains

Protein: ENSMUSP00000112577
Gene: ENSMUSG00000017721

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138038

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

Meta Mutation Damage Score

0.4844

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (75/76)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,506,104 (GRCm39)	K211E	probably damaging	Het
Acot7	A	G	4: 152,291,285 (GRCm39)	I84V	possibly damaging	Het
Ankrd44	A	G	1: 54,867,781 (GRCm39)	V34A	probably benign	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Atr	T	A	9: 95,818,516 (GRCm39)	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,983,426 (GRCm39)	R34*	probably null	Het
Ccdc152	T	G	15: 3,327,603 (GRCm39)	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,827,837 (GRCm39)	Q912L	probably benign	Het
Cdc42ep5	T	A	7: 4,154,395 (GRCm39)	H131L	probably benign	Het
Chd7	G	A	4: 8,844,675 (GRCm39)	E1595K	probably damaging	Het
Col11a1	G	A	3: 113,925,290 (GRCm39)	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,385,843 (GRCm39)	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,085,915 (GRCm39)	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012 (GRCm39)	Y119C	probably benign	Het
Dysf	T	C	6: 84,083,923 (GRCm39)	L785P	probably damaging	Het
Eqtn	T	A	4: 94,816,587 (GRCm39)	T69S	possibly damaging	Het
F11	T	A	8: 45,694,617 (GRCm39)	K581N	probably damaging	Het
Gli2	G	A	1: 118,782,290 (GRCm39)	P172S	probably damaging	Het
Gm7579	G	T	7: 141,765,603 (GRCm39)	C3F	unknown	Het
Grin2a	A	G	16: 9,481,194 (GRCm39)	V501A	possibly damaging	Het
Grk4	G	A	5: 34,831,901 (GRCm39)	D57N	probably damaging	Het
Gsdma	A	T	11: 98,557,319 (GRCm39)	D86V	probably damaging	Het
Gsx1	A	G	5: 147,126,738 (GRCm39)	E187G	probably damaging	Het
Hdac1-ps	A	G	17: 78,799,537 (GRCm39)	D176G	probably damaging	Het
Inpp5k	T	A	11: 75,524,307 (GRCm39)	F75L	probably benign	Het
Itpr1	T	C	6: 108,326,620 (GRCm39)	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,032,977 (GRCm39)	C130S	probably damaging	Het
Mei4	G	A	9: 81,809,639 (GRCm39)	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,961,120 (GRCm39)	V39A	probably benign	Het
Mroh2b	G	A	15: 4,974,572 (GRCm39)	R1184H	probably benign	Het
Msh3	T	C	13: 92,436,783 (GRCm39)	Q509R	probably null	Het
Myh8	T	C	11: 67,192,497 (GRCm39)	W1459R	probably damaging	Het
Mypop	T	A	7: 18,734,918 (GRCm39)		probably benign	Het
Ndc1	C	A	4: 107,225,293 (GRCm39)	T3K	probably damaging	Het
Nf1	A	C	11: 79,331,749 (GRCm39)	M695L	probably benign	Het
Nup50l	A	G	6: 96,141,793 (GRCm39)	M417T	probably benign	Het
Nutm2	C	A	13: 50,623,955 (GRCm39)	D217E	possibly damaging	Het
Or52a20	T	C	7: 103,365,858 (GRCm39)	I19T	probably damaging	Het
Or5b122	A	G	19: 13,562,994 (GRCm39)	T109A	probably benign	Het
Pde6c	C	A	19: 38,129,940 (GRCm39)	D283E	probably damaging	Het
Phldb2	A	G	16: 45,591,142 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,796,500 (GRCm39)	I2354T	possibly damaging	Het
Prdm15	T	C	16: 97,640,506 (GRCm39)	E27G	probably damaging	Het
Ptpn14	A	G	1: 189,597,709 (GRCm39)	I1140V	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rfx7	T	C	9: 72,519,071 (GRCm39)	S258P	probably damaging	Het
Rnf17	G	T	14: 56,730,822 (GRCm39)	G1209C	probably damaging	Het
S1pr4	C	T	10: 81,335,225 (GRCm39)		probably null	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,277,646 (GRCm39)	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,222,112 (GRCm39)		probably null	Het
Sez6l	A	C	5: 112,622,915 (GRCm39)	I212S	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag9	G	A	11: 93,939,365 (GRCm39)	R98H	probably damaging	Het
Spata31e2	A	T	1: 26,723,511 (GRCm39)	H556Q	possibly damaging	Het
St3gal5	T	C	6: 72,119,272 (GRCm39)	L128P	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Stxbp5l	A	G	16: 37,028,473 (GRCm39)	V530A	probably benign	Het
Tatdn1	A	G	15: 58,793,039 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,430,206 (GRCm39)	S466P	probably benign	Het
Tmem199	A	T	11: 78,399,152 (GRCm39)	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,744,764 (GRCm39)	E54G	probably benign	Het
Usp37	G	T	1: 74,532,163 (GRCm39)	Q77K	possibly damaging	Het
Vezf1	A	G	11: 87,967,125 (GRCm39)	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,613,932 (GRCm39)	M269L	probably benign	Het
Wdr93	C	A	7: 79,421,257 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,214,370 (GRCm39)	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,574,923 (GRCm39)	R1591*	probably null	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp180	T	A	7: 23,804,049 (GRCm39)	V156D	probably benign	Het
Zfp646	G	T	7: 127,479,359 (GRCm39)		probably null	Het
Zscan12	C	A	13: 21,550,813 (GRCm39)	T144K	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
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
R4672:Pigt	UTSW	2	164,339,498 (GRCm39)	unclassified	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'- TTTGTCCGACTCTACACAGAGCCC -3'
(R):5'- GGCTCAAGTCTACCACACTGGAAAC -3'

Sequencing Primer
(F):5'- TGTGATCTGCCTTACGTGCA -3'
(R):5'- AAAGCCCTGCCCTGCTC -3'

Posted On

2014-04-24