Mutagenetix > Incidental Mutation

Incidental Mutation 'R1548:Pigt'

172308

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

039587-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R1548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164339461-164350221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164343439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 305 (T305I)

Ref Sequence

ENSEMBL: ENSMUSP00000112577 (fasta)

Gene Model

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

AlphaFold

Q8BXQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000103101
AA Change: T305I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721
AA Change: T305I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117066
AA Change: T305I

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112577
Gene: ENSMUSG00000017721
AA Change: T305I

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

Meta Mutation Damage Score

0.2002

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,588,818 (GRCm39)	R78S	probably damaging	Het
Acad10	G	C	5: 121,764,104 (GRCm39)		probably benign	Het
Acad10	G	T	5: 121,764,103 (GRCm39)		probably benign	Het
Ang2	C	A	14: 51,432,990 (GRCm39)	E131*	probably null	Het
Ankfn1	T	C	11: 89,417,367 (GRCm39)	N82D	probably damaging	Het
Anks1b	T	C	10: 89,885,847 (GRCm39)	I181T	possibly damaging	Het
Bcl2l12	C	G	7: 44,642,242 (GRCm39)	G215R	probably damaging	Het
Bnc2	A	G	4: 84,194,194 (GRCm39)	Y1044H	probably damaging	Het
Cacna1s	T	C	1: 136,038,675 (GRCm39)	F1172S	probably damaging	Het
Cct8	A	G	16: 87,282,472 (GRCm39)	I482T	probably damaging	Het
Cfap74	C	T	4: 155,518,502 (GRCm39)	T580I	probably benign	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cpa1	G	A	6: 30,642,334 (GRCm39)	G245D	probably damaging	Het
Csmd3	A	G	15: 47,845,371 (GRCm39)	V801A	possibly damaging	Het
Ddx10	T	C	9: 53,060,861 (GRCm39)		probably null	Het
Ddx4	T	C	13: 112,736,531 (GRCm39)	N613S	probably damaging	Het
Drd3	A	G	16: 43,641,704 (GRCm39)	D340G	probably benign	Het
E2f4	A	G	8: 106,031,320 (GRCm39)	*411W	probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Foxp1	A	T	6: 98,922,381 (GRCm39)	I450N	probably damaging	Het
Ftdc1	A	T	16: 58,436,202 (GRCm39)	D40E	probably benign	Het
Gpr19	A	G	6: 134,847,047 (GRCm39)	F175S	possibly damaging	Het
Gpr21	C	T	2: 37,408,084 (GRCm39)	T210M	probably damaging	Het
Grhl2	C	T	15: 37,336,567 (GRCm39)	A488V	probably benign	Het
Hif3a	T	C	7: 16,778,328 (GRCm39)	T435A	probably benign	Het
Hoxb4	C	T	11: 96,209,725 (GRCm39)	R44*	probably null	Het
Ifi47	A	G	11: 48,986,698 (GRCm39)	D155G	probably damaging	Het
Igdcc4	T	C	9: 65,042,509 (GRCm39)	L142P	probably benign	Het
Ints6	G	A	14: 62,951,141 (GRCm39)	P296L	probably damaging	Het
Itga3	A	G	11: 94,937,745 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Krtap20-1	G	A	16: 88,812,277 (GRCm39)		probably benign	Het
Lgals12	A	T	19: 7,581,677 (GRCm39)	H50Q	probably benign	Het
Lrp12	A	G	15: 39,735,902 (GRCm39)	S696P	probably damaging	Het
Lrp6	G	A	6: 134,436,392 (GRCm39)	T1258I	possibly damaging	Het
Meis2	C	T	2: 115,889,183 (GRCm39)	D190N	probably damaging	Het
Mir100hg	T	C	9: 41,492,672 (GRCm39)	L116P	probably damaging	Het
Mon2	C	T	10: 122,871,912 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,238,368 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo15a	A	G	11: 60,379,064 (GRCm39)	H1394R	probably damaging	Het
Myo5a	A	T	9: 75,079,028 (GRCm39)	I929F	probably damaging	Het
Nek6	T	A	2: 38,458,907 (GRCm39)	Y141N	probably damaging	Het
Notch4	T	A	17: 34,787,396 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	T	5: 63,957,525 (GRCm39)	D285V	probably benign	Het
Olfml1	T	C	7: 107,189,582 (GRCm39)	S216P	possibly damaging	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Pfkfb2	G	T	1: 130,625,820 (GRCm39)	H453Q	probably benign	Het
Plxnb1	C	T	9: 108,929,968 (GRCm39)	L275F	possibly damaging	Het
Ppm1d	C	T	11: 85,230,431 (GRCm39)	R350C	probably damaging	Het
Prss1l	G	T	6: 41,372,945 (GRCm39)	L72F	probably damaging	Het
Rassf1	C	A	9: 107,429,045 (GRCm39)	P84T	probably benign	Het
Rgl3	G	T	9: 21,892,002 (GRCm39)	R361S	probably benign	Het
Rnf213	G	A	11: 119,333,533 (GRCm39)	R2914H	probably damaging	Het
Ryr2	A	T	13: 11,569,435 (GRCm39)	C4956*	probably null	Het
Scaper	C	T	9: 55,723,954 (GRCm39)	R668H	probably damaging	Het
Spata6	T	C	4: 111,636,203 (GRCm39)	F165L	probably benign	Het
Tcirg1	A	T	19: 3,946,845 (GRCm39)	W694R	probably benign	Het
Tmem245	A	T	4: 56,906,233 (GRCm39)	Y160*	probably null	Het
Tshr	T	C	12: 91,500,805 (GRCm39)	Y279H	probably damaging	Het
Ttf1	A	C	2: 28,955,150 (GRCm39)	K171N	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Xdh	A	G	17: 74,220,896 (GRCm39)	V611A	probably damaging	Het
Zfp142	G	T	1: 74,609,263 (GRCm39)	H1408N	probably damaging	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
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
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'- TCTGACTGCATGGACGCACCTATC -3'
(R):5'- CGTATCTGAATCTGCTGCAAACCCC -3'

Sequencing Primer
(F):5'- CTGTCCATTGGCGTCTCAGAG -3'
(R):5'- CACCCCATCAACTCACCATTATC -3'

Posted On

2014-04-13