Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Pigt'

695291

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

068941-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R9155 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

164339461-164350221 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT to CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT at 164341589 bp (GRCm39)

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

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,691,811 (GRCm39)	E34G	probably damaging	Het
Aldh1a3	A	T	7: 66,058,867 (GRCm39)	L157*	probably null	Het
Asic2	T	A	11: 80,784,872 (GRCm39)	T356S	probably benign	Het
Ate1	T	C	7: 129,996,463 (GRCm39)	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,350,423 (GRCm39)	Q474L		Het
Calhm6	T	C	10: 34,002,363 (GRCm39)	E240G	probably damaging	Het
Carf	C	A	1: 60,189,842 (GRCm39)	T689K	possibly damaging	Het
Carmil2	A	G	8: 106,412,922 (GRCm39)	D6G	probably benign	Het
Ccnd2	A	C	6: 127,127,663 (GRCm39)	V25G	probably damaging	Het
Ccnk	T	A	12: 108,159,978 (GRCm39)	F153L	probably damaging	Het
Cdh23	C	T	10: 60,249,485 (GRCm39)	G808E	probably damaging	Het
Clec11a	C	T	7: 43,954,317 (GRCm39)	R212Q	probably damaging	Het
Cog4	T	C	8: 111,608,384 (GRCm39)	W749R	probably damaging	Het
Col6a3	T	A	1: 90,738,301 (GRCm39)	T1073S	probably benign	Het
Col6a4	T	A	9: 105,952,209 (GRCm39)	D563V	probably benign	Het
Coq5	A	G	5: 115,433,839 (GRCm39)		probably null	Het
Crebbp	A	C	16: 3,914,346 (GRCm39)	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,449,051 (GRCm39)	G2737W		Het
Ddrgk1	T	C	2: 130,500,227 (GRCm39)	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,373,796 (GRCm39)	Q589R	probably benign	Het
Dnah10	A	G	5: 124,907,475 (GRCm39)	D4336G	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,938 (GRCm39)	Q140L	possibly damaging	Het
Ergic3	A	G	2: 155,850,780 (GRCm39)	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,329,497 (GRCm39)	S421T	probably benign	Het
Fndc3a	T	A	14: 72,921,162 (GRCm39)	H4L	possibly damaging	Het
Gid8	T	A	2: 180,359,756 (GRCm39)	Y213*	probably null	Het
Hephl1	G	T	9: 15,000,375 (GRCm39)	H292Q	probably damaging	Het
Hexb	T	C	13: 97,314,414 (GRCm39)	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,746,788 (GRCm39)	R168H	probably benign	Het
Hus1	A	G	11: 8,956,056 (GRCm39)	I159T	probably damaging	Het
Inha	A	G	1: 75,486,133 (GRCm39)	T143A	probably benign	Het
Itga8	A	G	2: 12,194,330 (GRCm39)	I690T	probably benign	Het
Itgae	G	T	11: 73,016,089 (GRCm39)	C766F	possibly damaging	Het
Kank4	T	C	4: 98,666,563 (GRCm39)	E628G	probably benign	Het
Kctd19	T	C	8: 106,120,571 (GRCm39)	H221R	probably benign	Het
Llgl1	A	G	11: 60,597,934 (GRCm39)	E351G	probably benign	Het
Lrba	A	G	3: 86,202,508 (GRCm39)	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,291,713 (GRCm39)	R3489*	probably null	Het
Lrriq1	T	C	10: 103,050,640 (GRCm39)	N704S	probably benign	Het
Mbtps1	T	C	8: 120,235,693 (GRCm39)	N995S	probably benign	Het
Mga	T	C	2: 119,757,013 (GRCm39)	C1077R	probably damaging	Het
Muc21	G	A	17: 35,932,131 (GRCm39)	P685L	unknown	Het
Ndufv1	A	T	19: 4,059,912 (GRCm39)	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,429,660 (GRCm39)	L226P	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Or12k8	A	C	2: 36,975,016 (GRCm39)	M248R	probably benign	Het
Or1d2	A	G	11: 74,255,791 (GRCm39)	T99A	probably benign	Het
Or2n1d	A	T	17: 38,646,224 (GRCm39)	M59L	probably damaging	Het
Or5b99	G	A	19: 12,976,428 (GRCm39)	C26Y	probably benign	Het
Or7g35	A	T	9: 19,496,379 (GRCm39)	D182V	probably benign	Het
Phc3	A	G	3: 30,968,691 (GRCm39)	V812A	probably benign	Het
Ppp4c	A	T	7: 126,386,419 (GRCm39)	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,422,023 (GRCm39)	P308T	probably damaging	Het
Rhot1	A	G	11: 80,148,380 (GRCm39)	T607A	probably null	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,701,294 (GRCm39)	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,672,571 (GRCm39)	Y36H	probably damaging	Het
Sox17	T	C	1: 4,562,447 (GRCm39)	Y251C	probably damaging	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Taf4b	T	C	18: 14,946,296 (GRCm39)	V373A	probably benign	Het
Tecpr2	T	A	12: 110,881,184 (GRCm39)	V107E	probably damaging	Het
Them7	A	G	2: 105,209,124 (GRCm39)	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Ttn	C	T	2: 76,625,937 (GRCm39)	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,754,615 (GRCm39)	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,196,343 (GRCm39)	R309*	probably null	Het
Vmn2r10	A	T	5: 109,144,212 (GRCm39)	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,917,207 (GRCm39)	Q435R	probably null	Het
Vmn2r50	A	T	7: 9,781,571 (GRCm39)	H391Q	probably damaging	Het
Zbtb44	A	T	9: 30,965,309 (GRCm39)	I240F	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
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
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'- CAGAGTGTTCCCAGGCAAGATG -3'
(R):5'- ATGCACAGAAGATCCCCGAG -3'

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

Posted On

2022-01-20