Mutagenetix > Incidental Mutation

Incidental Mutation 'R5567:Pigt'

436899

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

043124-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R5567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164339461-164350221 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 164343482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 319 (Y319*)

Ref Sequence

ENSEMBL: ENSMUSP00000112577 (fasta)

Gene Model

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

AlphaFold

Q8BXQ2

Predicted Effect

probably null
Transcript: ENSMUST00000103101
AA Change: Y319*

SMART Domains

Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721
AA Change: Y319*

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

Predicted Effect

probably null
Transcript: ENSMUST00000117066
AA Change: Y319*

SMART Domains

Protein: ENSMUSP00000112577
Gene: ENSMUSG00000017721
AA Change: Y319*

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

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	T	6: 86,932,150 (GRCm39)	Q374*	probably null	Het
Adam19	A	G	11: 46,027,077 (GRCm39)	D570G	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Bltp3b	T	A	10: 89,644,383 (GRCm39)	M29K	probably benign	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cdh9	A	G	15: 16,855,930 (GRCm39)	T657A	probably damaging	Het
Cep104	T	C	4: 154,086,734 (GRCm39)	S794P	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Csmd3	A	T	15: 47,508,864 (GRCm39)	M2907K	possibly damaging	Het
Cspg4	A	C	9: 56,793,932 (GRCm39)	I556L	probably benign	Het
Cwf19l2	T	A	9: 3,456,831 (GRCm39)	D721E	probably damaging	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dna2	G	T	10: 62,802,452 (GRCm39)	A857S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,444,044 (GRCm39)	C619*	probably null	Het
Ftcd	A	G	10: 76,423,967 (GRCm39)	K503E	probably benign	Het
Gbp2b	C	T	3: 142,317,126 (GRCm39)	A494V	possibly damaging	Het
Gfral	C	T	9: 76,115,900 (GRCm39)	A25T	probably benign	Het
Gins2	T	A	8: 121,315,684 (GRCm39)	D24V	possibly damaging	Het
Gm10985	T	C	3: 53,752,683 (GRCm39)	I22T	probably damaging	Het
Golga4	T	A	9: 118,387,251 (GRCm39)	S1458T	probably damaging	Het
Gpatch1	T	C	7: 35,006,640 (GRCm39)	K176R	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Itpr3	C	T	17: 27,322,880 (GRCm39)	T1119M	possibly damaging	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Klk1b1	T	A	7: 43,620,593 (GRCm39)	S228T	probably damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Large1	A	G	8: 73,564,081 (GRCm39)	S562P	possibly damaging	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Lrriq1	G	A	10: 103,006,457 (GRCm39)	P1223S	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Morn2	A	G	17: 80,604,709 (GRCm39)	D128G	probably damaging	Het
Msl2	A	G	9: 100,978,936 (GRCm39)	K437E	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Mxra8	T	C	4: 155,925,465 (GRCm39)	M58T	probably damaging	Het
Myo16	A	G	8: 10,372,676 (GRCm39)	D125G	probably damaging	Het
Myom2	A	G	8: 15,152,546 (GRCm39)	Q631R	probably benign	Het
Nlrp1b	T	A	11: 71,072,229 (GRCm39)	H538L	probably benign	Het
Nme3	T	A	17: 25,115,823 (GRCm39)		probably null	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nub1	A	G	5: 24,913,814 (GRCm39)	E565G	possibly damaging	Het
Or1e19	C	T	11: 73,316,272 (GRCm39)	C179Y	probably damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or7e168	A	G	9: 19,719,674 (GRCm39)	D20G	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parl	A	G	16: 20,101,762 (GRCm39)	M90T	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Plb1	A	G	5: 32,521,543 (GRCm39)	T1465A	unknown	Het
Plxna4	T	C	6: 32,134,915 (GRCm39)	N1763D	possibly damaging	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Ralb	C	T	1: 119,411,265 (GRCm39)	V25I	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rnf43	A	G	11: 87,618,271 (GRCm39)	E187G	probably damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scap	A	G	9: 110,206,712 (GRCm39)	S386G	probably damaging	Het
Skint10	T	C	4: 112,573,067 (GRCm39)	Y243C	probably damaging	Het
Stpg2	A	G	3: 139,125,547 (GRCm39)	T447A	probably benign	Het
Tas1r1	G	A	4: 152,122,782 (GRCm39)	A21V	probably damaging	Het
Tas2r122	C	T	6: 132,688,335 (GRCm39)	G186E	probably benign	Het
Tenm4	C	A	7: 96,545,416 (GRCm39)	Y2477*	probably null	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmcc2	A	C	1: 132,285,543 (GRCm39)	S608A	probably benign	Het
Ttc41	T	C	10: 86,596,784 (GRCm39)		probably null	Het
Ttk	T	A	9: 83,744,588 (GRCm39)	N593K	possibly damaging	Het
Tulp1	A	G	17: 28,578,172 (GRCm39)	V289A	possibly damaging	Het
Unc93a2	T	C	17: 7,631,202 (GRCm39)	T456A	probably benign	Het
Usp34	A	C	11: 23,438,336 (GRCm39)	Q278P	probably damaging	Het
Vmn2r78	T	A	7: 86,570,737 (GRCm39)	D418E	probably benign	Het
Vmn2r90	C	T	17: 17,932,336 (GRCm39)	A81V	probably damaging	Het
Xpc	T	A	6: 91,475,117 (GRCm39)	N636I	probably damaging	Het
Zfp563	A	T	17: 33,308,431 (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
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
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'- TCAGAGCCTAGTTTATGTGGACATC -3'
(R):5'- CAGGGAATTGGGTCTGAACC -3'

Sequencing Primer
(F):5'- AGGTACCAAGGTGTCTAGCCAC -3'
(R):5'- GGTCTGAACCCCTATGAATTTGAAG -3'

Posted On

2016-10-24