Mutagenetix > Incidental Mutation

Incidental Mutation 'R8465:Pigf'

656808

Institutional Source

Beutler Lab

Gene Symbol

Pigf

Ensembl Gene

ENSMUSG00000024145

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class F

Synonyms

MMRRC Submission

067909-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87304684-87332834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87304964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 193 (T193I)

Ref Sequence

ENSEMBL: ENSMUSP00000024957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024956] [ENSMUST00000024957] [ENSMUST00000139344]

AlphaFold

O09101

Predicted Effect

probably benign
Transcript: ENSMUST00000024956

SMART Domains

Protein: ENSMUSP00000024956
Gene: ENSMUSG00000024143

Domain	Start	End	E-Value	Type
RHO	12	185	5.31e-124	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024957
AA Change: T193I

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145
AA Change: T193I

Domain	Start	End	E-Value	Type
Pfam:PIG-F	21	204	1.6e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139344

SMART Domains

Protein: ENSMUSP00000116780
Gene: ENSMUSG00000024143

Domain	Start	End	E-Value	Type
RHO	12	153	1.91e-84	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	A	T	12: 84,153,215 (GRCm39)		probably null	Het
Adamtsl3	A	T	7: 82,247,330 (GRCm39)	N1429Y	probably benign	Het
Adk	T	C	14: 21,153,892 (GRCm39)	S32P	possibly damaging	Het
Akap13	A	T	7: 75,376,786 (GRCm39)	M2005L	probably benign	Het
Atp10a	A	T	7: 58,478,058 (GRCm39)	D1367V	probably benign	Het
Bckdhb	A	G	9: 83,870,915 (GRCm39)	I142V	probably benign	Het
Brap	C	T	5: 121,817,358 (GRCm39)	Q322*	probably null	Het
Carmil3	A	T	14: 55,734,305 (GRCm39)	N401I	probably damaging	Het
Cdan1	A	T	2: 120,558,921 (GRCm39)	S426T	possibly damaging	Het
Cdc27	C	A	11: 104,408,317 (GRCm39)	S531I	probably benign	Het
Cela3a	A	T	4: 137,131,185 (GRCm39)	Y184*	probably null	Het
Cep63	T	C	9: 102,490,576 (GRCm39)	K178R	probably benign	Het
Cfb	G	A	17: 35,076,290 (GRCm39)	Q152*	probably null	Het
Cnpy2	G	A	10: 128,162,044 (GRCm39)	V106I	probably benign	Het
Cntn1	GCTGTCTTC	GC	15: 92,237,404 (GRCm39)		probably null	Het
Ctc1	G	A	11: 68,917,045 (GRCm39)	G67D	probably damaging	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Cyp2d12	T	G	15: 82,439,378 (GRCm39)	S11A	possibly damaging	Het
Ddx55	T	A	5: 124,697,184 (GRCm39)		probably null	Het
Dedd2	G	T	7: 24,918,331 (GRCm39)	R75S	probably damaging	Het
Fat2	G	A	11: 55,147,530 (GRCm39)	S3904F	possibly damaging	Het
Fibp	G	A	19: 5,513,215 (GRCm39)	V177I	probably damaging	Het
Fsip2	A	T	2: 82,810,284 (GRCm39)	E2201V	probably benign	Het
Gbp11	C	T	5: 105,472,928 (GRCm39)	D499N	probably benign	Het
Gfm1	A	G	3: 67,339,032 (GRCm39)	E45G	probably damaging	Het
H2-D1	A	G	17: 35,482,487 (GRCm39)	Y69C	probably damaging	Het
Hcar1	A	G	5: 124,017,109 (GRCm39)	F194S	probably damaging	Het
Heatr4	A	T	12: 84,024,707 (GRCm39)		probably null	Het
Kcnd2	G	A	6: 21,216,695 (GRCm39)	C133Y	probably damaging	Het
Kcnq1	A	T	7: 142,979,711 (GRCm39)	Q619L	probably benign	Het
Kctd12	T	A	14: 103,218,901 (GRCm39)	R326W	probably damaging	Het
Kel	A	G	6: 41,666,472 (GRCm39)		probably null	Het
Lipk	A	T	19: 34,024,197 (GRCm39)	I332F	probably benign	Het
Lrrc37	T	A	11: 103,506,947 (GRCm39)		probably benign	Het
Masp2	A	G	4: 148,696,516 (GRCm39)	D371G	possibly damaging	Het
Met	A	G	6: 17,571,809 (GRCm39)	E1376G	probably benign	Het
Mup5	A	T	4: 61,752,015 (GRCm39)	I78K	probably benign	Het
Mynn	A	T	3: 30,670,790 (GRCm39)	D526V	probably damaging	Het
Naip6	G	T	13: 100,433,423 (GRCm39)	T1138N	possibly damaging	Het
Neurod1	G	T	2: 79,284,696 (GRCm39)	P229Q	probably damaging	Het
Npepps	T	G	11: 97,139,085 (GRCm39)	R162S	probably damaging	Het
Ntrk3	T	A	7: 78,112,631 (GRCm39)	Q175L	probably damaging	Het
Obsl1	T	C	1: 75,480,032 (GRCm39)	T310A	probably damaging	Het
Or4g7	A	T	2: 111,309,425 (GRCm39)	T99S	probably benign	Het
Or8c9	A	T	9: 38,241,410 (GRCm39)	I176F	possibly damaging	Het
Or8j3c	A	T	2: 86,253,975 (GRCm39)	M15K	probably benign	Het
Or8k32	A	G	2: 86,368,731 (GRCm39)	I176T	probably damaging	Het
Pkp4	T	C	2: 59,172,525 (GRCm39)	V904A	possibly damaging	Het
Plekha6	C	T	1: 133,197,778 (GRCm39)	T141M	probably damaging	Het
Rapgef6	G	A	11: 54,582,308 (GRCm39)	D1407N	probably benign	Het
Rhobtb3	T	C	13: 76,087,741 (GRCm39)	D82G	probably damaging	Het
Rims1	T	C	1: 22,498,731 (GRCm39)	N767S	possibly damaging	Het
Ripor2	T	A	13: 24,849,451 (GRCm39)		probably benign	Het
Sec14l4	T	A	11: 3,993,948 (GRCm39)	I296N	probably damaging	Het
Serpinb12	G	T	1: 106,884,342 (GRCm39)	V363F	probably damaging	Het
Serpinb9c	A	G	13: 33,334,016 (GRCm39)	I342T	probably damaging	Het
Shmt2	A	G	10: 127,355,945 (GRCm39)	V133A	probably damaging	Het
Slc30a6	A	G	17: 74,722,661 (GRCm39)	M243V	probably benign	Het
Slfn2	T	A	11: 82,960,487 (GRCm39)	N155K	probably damaging	Het
Spata31h1	A	T	10: 82,152,298 (GRCm39)	L23M	possibly damaging	Het
Syne2	A	T	12: 75,900,898 (GRCm39)	D19V	possibly damaging	Het
Tcl1b3	A	T	12: 105,160,736 (GRCm39)	I116L	probably benign	Het
Tcp11	A	G	17: 28,286,766 (GRCm39)	I411T	probably damaging	Het
Tctn1	C	T	5: 122,379,859 (GRCm39)	A560T	probably benign	Het
Tenm3	C	A	8: 48,682,216 (GRCm39)	Q2471H	probably damaging	Het
Tnr	A	G	1: 159,713,645 (GRCm39)	D691G	probably benign	Het
Ube3b	C	T	5: 114,528,451 (GRCm39)	P150S	probably damaging	Het
Ugt2b5	T	C	5: 87,287,518 (GRCm39)	I216M	possibly damaging	Het
Unc5d	T	A	8: 29,156,877 (GRCm39)	R789S	probably damaging	Het
Ush2a	G	A	1: 188,147,875 (GRCm39)	G934D	probably damaging	Het
Usp6nl	A	T	2: 6,399,352 (GRCm39)	R70S	probably damaging	Het
Vmn1r181	T	C	7: 23,684,309 (GRCm39)	I258T	possibly damaging	Het
Vmn2r15	C	A	5: 109,445,302 (GRCm39)	D41Y	probably damaging	Het
Vmn2r17	T	A	5: 109,600,691 (GRCm39)	I663N	probably damaging	Het
Vnn3	C	A	10: 23,741,780 (GRCm39)	Q362K	possibly damaging	Het
Wdr72	A	G	9: 74,059,730 (GRCm39)	D380G	possibly damaging	Het
Wfdc10	G	A	2: 164,499,180 (GRCm39)	E97K	possibly damaging	Het
Xdh	A	T	17: 74,206,007 (GRCm39)	C1002*	probably null	Het
Zscan4e	A	C	7: 11,041,578 (GRCm39)	V126G	probably damaging	Het

Other mutations in Pigf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pigf	APN	17	87,327,876 (GRCm39)	missense	probably null	0.41
IGL01484:Pigf	APN	17	87,316,308 (GRCm39)	missense	probably benign	0.04
R0506:Pigf	UTSW	17	87,316,337 (GRCm39)	missense	probably benign	0.00
R0684:Pigf	UTSW	17	87,327,923 (GRCm39)	missense	probably benign	0.31
R0987:Pigf	UTSW	17	87,304,973 (GRCm39)	missense	probably damaging	1.00
R4295:Pigf	UTSW	17	87,331,184 (GRCm39)	missense	probably benign	0.00
R5365:Pigf	UTSW	17	87,331,136 (GRCm39)	missense	possibly damaging	0.62
R6287:Pigf	UTSW	17	87,304,967 (GRCm39)	missense	probably damaging	1.00
R8420:Pigf	UTSW	17	87,327,910 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTGCTGTAAATGGACTGC -3'
(R):5'- GAAGCCTTGTTACTGTTTAATGCAC -3'

Sequencing Primer
(F):5'- TAAATGGACTGCCCGGCTTG -3'
(R):5'- AGTGTTCATGATCAAAGCAGTTATG -3'

Posted On

2021-01-18