Mutagenetix > Incidental Mutation

Incidental Mutation 'R8420:Pigf'

653170

Institutional Source

Beutler Lab

Gene Symbol

Pigf

Ensembl Gene

ENSMUSG00000024145

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class F

Synonyms

MMRRC Submission

067773-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8420 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87304684-87332834 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 87327910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 119 (L119*)

Ref Sequence

ENSEMBL: ENSMUSP00000024957 (fasta)

Gene Model

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

AlphaFold

O09101

Predicted Effect

probably null
Transcript: ENSMUST00000024957
AA Change: L119*

SMART Domains

Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145
AA Change: L119*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,937,746 (GRCm39)	S11P	unknown	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Aph1b	A	G	9: 66,701,503 (GRCm39)	S45P	probably damaging	Het
Atp9b	A	T	18: 80,887,806 (GRCm39)	D321E		Het
C1qbp	A	G	11: 70,869,543 (GRCm39)	V180A	possibly damaging	Het
C4b	G	T	17: 34,953,513 (GRCm39)	A990D	probably damaging	Het
Ccdc80	T	A	16: 44,915,612 (GRCm39)	S123T	possibly damaging	Het
Cdh18	A	C	15: 23,474,138 (GRCm39)	E669D	possibly damaging	Het
Ceacam3	T	A	7: 16,895,608 (GRCm39)	V526D		Het
Cenpf	C	T	1: 189,404,782 (GRCm39)	C349Y	probably damaging	Het
Dmrt2	T	C	19: 25,655,379 (GRCm39)	V326A	probably damaging	Het
Dock9	T	C	14: 121,783,454 (GRCm39)	Q2023R	probably damaging	Het
Exd2	A	G	12: 80,522,771 (GRCm39)	R77G	probably benign	Het
Exph5	A	T	9: 53,287,148 (GRCm39)	K1410*	probably null	Het
Eya2	A	G	2: 165,608,988 (GRCm39)	T443A	probably damaging	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Foxp2	G	T	6: 15,403,866 (GRCm39)	R381L	unknown	Het
Grm7	T	G	6: 111,057,315 (GRCm39)	V305G	probably benign	Het
Gzma	G	A	13: 113,237,464 (GRCm39)	R8W	probably benign	Het
H6pd	T	C	4: 150,066,133 (GRCm39)	E759G	probably benign	Het
Ift27	A	G	15: 78,048,391 (GRCm39)	V154A	probably benign	Het
Kif1a	A	T	1: 92,950,141 (GRCm39)	S1429T	probably benign	Het
Lrrn1	T	A	6: 107,546,294 (GRCm39)	D697E	probably benign	Het
Mcrs1	A	T	15: 99,141,575 (GRCm39)	I387N	probably damaging	Het
Muc16	T	C	9: 18,448,807 (GRCm39)	T7675A	probably damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nid1	C	A	13: 13,612,416 (GRCm39)	L44I	possibly damaging	Het
Or2f2	A	T	6: 42,767,644 (GRCm39)	T224S	possibly damaging	Het
Or4m1	T	C	14: 50,558,233 (GRCm39)	T20A	probably benign	Het
Or5h27	A	G	16: 59,006,117 (GRCm39)	I243T	unknown	Het
Or8k1	T	A	2: 86,047,457 (GRCm39)	E199V	probably damaging	Het
Pde11a	C	T	2: 75,889,354 (GRCm39)	D707N	probably damaging	Het
Pkd1l1	A	T	11: 8,820,277 (GRCm39)	C1679*	probably null	Het
Prnp	A	G	2: 131,778,669 (GRCm39)	N107S	probably benign	Het
Ptgfr	C	T	3: 151,541,053 (GRCm39)	V152M	possibly damaging	Het
Rap2b	A	G	3: 61,271,805 (GRCm39)		probably benign	Het
Rtn4	A	G	11: 29,657,300 (GRCm39)	T485A	probably damaging	Het
Sec23b	A	G	2: 144,401,234 (GRCm39)	T32A	probably benign	Het
Skint5	A	T	4: 113,437,679 (GRCm39)		probably null	Het
Slc13a5	A	G	11: 72,148,210 (GRCm39)	L275P	probably damaging	Het
Slc20a1	C	T	2: 129,041,784 (GRCm39)	A49V	probably damaging	Het
Slc35g2	A	G	9: 100,435,224 (GRCm39)	I149T	probably benign	Het
Syk	T	A	13: 52,778,763 (GRCm39)	I283K	probably benign	Het
Taf7l2	T	C	10: 115,948,440 (GRCm39)	Y362C	probably benign	Het
Tnfsf13b	G	A	8: 10,056,795 (GRCm39)		probably benign	Het
Ubr1	A	G	2: 120,701,476 (GRCm39)	V1592A	probably benign	Het
Vopp1	T	C	6: 57,739,379 (GRCm39)	*123W	probably null	Het
Xpo4	T	A	14: 57,841,913 (GRCm39)	Q467H	probably damaging	Het
Zdhhc22	A	C	12: 87,035,143 (GRCm39)	V103G	possibly damaging	Het
Zfp868	A	G	8: 70,064,160 (GRCm39)	S392P	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
R8465:Pigf	UTSW	17	87,304,964 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TTTCTGACATCCCTGAGAGCC -3'
(R):5'- ATCCTTATTTAGTGGGGCTCAG -3'

Sequencing Primer
(F):5'- CTGCCTAGAAACGCTCATAGGATG -3'
(R):5'- ATGTGCACCGCTAAGACT -3'

Posted On

2020-10-20