Mutagenetix > Incidental Mutation

Incidental Mutation 'R2845:Pign'

251490

Institutional Source

Beutler Lab

Gene Symbol

Pign

Ensembl Gene

ENSMUSG00000056536

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class N

Synonyms

MMRRC Submission

040438-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.844) question?

Stock #

R2845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105446147-105591402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105585521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 9 (L9F)

Ref Sequence

ENSEMBL: ENSMUSP00000140020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070699] [ENSMUST00000186485] [ENSMUST00000187537] [ENSMUST00000190811]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070699
AA Change: L9F

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: L9F

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Phosphodiest	116	303	1.2e-10	PFAM
Pfam:Sulfatase	148	334	2.1e-8	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:PigN	430	884	2.3e-138	PFAM
transmembrane domain	893	915	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185983

Predicted Effect

probably benign
Transcript: ENSMUST00000186485
AA Change: L9F

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: L9F

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Phosphodiest	109	330	3.7e-11	PFAM
Pfam:Sulfatase	148	334	2.1e-8	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:PigN	430	884	1.5e-141	PFAM
transmembrane domain	893	915	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187537
AA Change: L9F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140020
Gene: ENSMUSG00000056536
AA Change: L9F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Phosphodiest	46	331	1.2e-12	PFAM
Pfam:Sulfatase	146	334	2.9e-6	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:PigN	430	800	5.9e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187909

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190811
AA Change: L9F

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140844
Gene: ENSMUSG00000056536
AA Change: L9F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Phosphodiest	46	331	1.1e-12	PFAM
Pfam:Sulfatase	146	334	2.8e-6	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:PigN	430	794	4.4e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191408

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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 expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit abnormal gastrulation, forebrain hypoplasia, coloboma, and microphthalmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap25	C	T	6: 87,436,949 (GRCm39)	E634K	possibly damaging	Het
Atg4a	G	A	X: 139,893,589 (GRCm39)	E106K	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cep152	A	G	2: 125,429,894 (GRCm39)	I676T	probably damaging	Het
Cherp	C	A	8: 73,220,247 (GRCm39)	A449S	probably damaging	Het
Col19a1	C	T	1: 24,598,762 (GRCm39)	G77E	unknown	Het
Cplane1	G	A	15: 8,245,864 (GRCm39)	R1412H	probably damaging	Het
Csnk1g2	A	G	10: 80,474,438 (GRCm39)	S220G	probably damaging	Het
Efcab7	T	A	4: 99,766,835 (GRCm39)	V20D	probably damaging	Het
Fhad1	G	T	4: 141,632,279 (GRCm39)	Q1287K	probably benign	Het
Frem3	T	C	8: 81,339,849 (GRCm39)	F714S	probably damaging	Het
Gpx6	A	T	13: 21,503,045 (GRCm39)		probably null	Het
Hsd3b1	T	C	3: 98,760,094 (GRCm39)	E299G	probably damaging	Het
Mark2	T	C	19: 7,264,227 (GRCm39)	E116G	probably damaging	Het
Mrgpra2a	T	A	7: 47,076,878 (GRCm39)	M127L	probably benign	Het
Or10al3	T	C	17: 38,011,714 (GRCm39)	I51T	probably damaging	Het
Plekha1	G	T	7: 130,510,095 (GRCm39)	W280C	probably damaging	Het
Plekhh3	T	C	11: 101,061,056 (GRCm39)		probably benign	Het
Pramel22	G	A	4: 143,380,868 (GRCm39)	S385F	probably damaging	Het
Psmd13	C	A	7: 140,477,653 (GRCm39)		probably benign	Het
Ptpru	T	A	4: 131,546,972 (GRCm39)	I168F	probably benign	Het
Sbf1	A	G	15: 89,187,421 (GRCm39)		probably null	Het
Skint10	T	C	4: 112,573,023 (GRCm39)	S258G	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Ssh3	T	C	19: 4,315,324 (GRCm39)	Y338C	probably damaging	Het
Tas2r138	T	C	6: 40,589,701 (GRCm39)	S182G	probably benign	Het
Tgfbr3l	A	G	8: 4,299,280 (GRCm39)	D49G	probably damaging	Het
Zbtb8os	A	T	4: 129,235,309 (GRCm39)	E54D	probably damaging	Het
Zfp24	G	T	18: 24,150,885 (GRCm39)	T87K	probably damaging	Het
Zfp407	G	T	18: 84,576,522 (GRCm39)	C1530*	probably null	Het

Other mutations in Pign

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Pign	APN	1	105,525,448 (GRCm39)	nonsense	probably null
IGL00770:Pign	APN	1	105,525,481 (GRCm39)	missense	probably benign	0.00
IGL00774:Pign	APN	1	105,525,481 (GRCm39)	missense	probably benign	0.00
IGL00828:Pign	APN	1	105,481,845 (GRCm39)	missense	probably damaging	0.97
IGL01407:Pign	APN	1	105,517,027 (GRCm39)	missense	probably benign	0.06
IGL01523:Pign	APN	1	105,580,903 (GRCm39)	missense	probably damaging	0.98
IGL01953:Pign	APN	1	105,516,764 (GRCm39)	splice site	probably benign
IGL02389:Pign	APN	1	105,574,506 (GRCm39)	nonsense	probably null
PIT4810001:Pign	UTSW	1	105,525,487 (GRCm39)	missense	possibly damaging	0.83
R0080:Pign	UTSW	1	105,480,130 (GRCm39)	missense	probably damaging	1.00
R0097:Pign	UTSW	1	105,515,701 (GRCm39)	splice site	probably benign
R0302:Pign	UTSW	1	105,516,818 (GRCm39)	missense	possibly damaging	0.83
R0573:Pign	UTSW	1	105,580,902 (GRCm39)	missense	probably damaging	1.00
R0580:Pign	UTSW	1	105,519,419 (GRCm39)	missense	probably benign	0.03
R0946:Pign	UTSW	1	105,519,422 (GRCm39)	missense	probably benign	0.00
R1397:Pign	UTSW	1	105,585,496 (GRCm39)	missense	probably damaging	1.00
R1462:Pign	UTSW	1	105,512,727 (GRCm39)	missense	possibly damaging	0.95
R1462:Pign	UTSW	1	105,512,727 (GRCm39)	missense	possibly damaging	0.95
R1751:Pign	UTSW	1	105,580,917 (GRCm39)	missense	probably benign	0.19
R1753:Pign	UTSW	1	105,517,042 (GRCm39)	missense	possibly damaging	0.65
R1767:Pign	UTSW	1	105,580,917 (GRCm39)	missense	probably benign	0.19
R1854:Pign	UTSW	1	105,482,223 (GRCm39)	missense	probably damaging	0.99
R1907:Pign	UTSW	1	105,565,940 (GRCm39)	missense	possibly damaging	0.50
R2846:Pign	UTSW	1	105,585,521 (GRCm39)	missense	possibly damaging	0.80
R3718:Pign	UTSW	1	105,577,006 (GRCm39)	critical splice donor site	probably null
R3970:Pign	UTSW	1	105,583,728 (GRCm39)	missense	probably damaging	1.00
R4067:Pign	UTSW	1	105,515,703 (GRCm39)	critical splice donor site	probably null
R4110:Pign	UTSW	1	105,481,540 (GRCm39)	unclassified	probably benign
R4387:Pign	UTSW	1	105,449,785 (GRCm39)	missense	possibly damaging	0.48
R4393:Pign	UTSW	1	105,449,751 (GRCm39)	missense	probably benign	0.00
R4472:Pign	UTSW	1	105,575,945 (GRCm39)	missense	probably benign	0.29
R4519:Pign	UTSW	1	105,525,391 (GRCm39)	critical splice donor site	probably null
R4619:Pign	UTSW	1	105,449,715 (GRCm39)	utr 3 prime	probably benign
R4746:Pign	UTSW	1	105,512,749 (GRCm39)	missense	probably benign	0.33
R4859:Pign	UTSW	1	105,575,892 (GRCm39)	nonsense	probably null
R4893:Pign	UTSW	1	105,574,436 (GRCm39)	missense	probably damaging	1.00
R4953:Pign	UTSW	1	105,572,227 (GRCm39)	missense	probably benign	0.32
R5046:Pign	UTSW	1	105,449,798 (GRCm39)	missense	possibly damaging	0.94
R5377:Pign	UTSW	1	105,585,537 (GRCm39)	missense	probably benign	0.12
R5388:Pign	UTSW	1	105,583,695 (GRCm39)	missense	probably damaging	1.00
R5482:Pign	UTSW	1	105,474,435 (GRCm39)	missense	probably benign	0.44
R5594:Pign	UTSW	1	105,574,594 (GRCm39)	intron	probably benign
R5639:Pign	UTSW	1	105,517,040 (GRCm39)	missense	probably benign	0.09
R5778:Pign	UTSW	1	105,519,447 (GRCm39)	missense	probably damaging	1.00
R5821:Pign	UTSW	1	105,516,788 (GRCm39)	missense	possibly damaging	0.95
R5928:Pign	UTSW	1	105,485,792 (GRCm39)	missense	possibly damaging	0.55
R5979:Pign	UTSW	1	105,516,999 (GRCm39)	missense	probably benign	0.01
R6213:Pign	UTSW	1	105,516,991 (GRCm39)	missense	possibly damaging	0.50
R6292:Pign	UTSW	1	105,512,802 (GRCm39)	missense	possibly damaging	0.69
R6343:Pign	UTSW	1	105,512,820 (GRCm39)	missense	probably benign	0.33
R6566:Pign	UTSW	1	105,565,906 (GRCm39)	critical splice donor site	probably null
R6856:Pign	UTSW	1	105,481,620 (GRCm39)	nonsense	probably null
R6954:Pign	UTSW	1	105,481,622 (GRCm39)	missense	probably benign	0.39
R7361:Pign	UTSW	1	105,512,778 (GRCm39)	missense	probably benign	0.01
R7582:Pign	UTSW	1	105,577,092 (GRCm39)	missense	probably benign	0.00
R7622:Pign	UTSW	1	105,575,842 (GRCm39)	missense	possibly damaging	0.65
R7742:Pign	UTSW	1	105,480,122 (GRCm39)	missense	probably benign
R7892:Pign	UTSW	1	105,585,401 (GRCm39)	missense	probably benign	0.01
R8273:Pign	UTSW	1	105,516,803 (GRCm39)	missense	probably benign	0.00
R8352:Pign	UTSW	1	105,575,917 (GRCm39)	missense	probably benign	0.35
R8452:Pign	UTSW	1	105,575,917 (GRCm39)	missense	probably benign	0.35
R8826:Pign	UTSW	1	105,481,827 (GRCm39)	missense	probably damaging	1.00
R8841:Pign	UTSW	1	105,485,634 (GRCm39)	intron	probably benign
R8886:Pign	UTSW	1	105,512,779 (GRCm39)	missense	probably benign
R8904:Pign	UTSW	1	105,519,359 (GRCm39)	missense	possibly damaging	0.87
R9074:Pign	UTSW	1	105,556,246 (GRCm39)	missense	unknown
R9197:Pign	UTSW	1	105,516,818 (GRCm39)	missense	probably benign	0.03
R9630:Pign	UTSW	1	105,481,591 (GRCm39)	missense	probably benign	0.23
R9702:Pign	UTSW	1	105,485,212 (GRCm39)	missense	probably damaging	1.00
X0025:Pign	UTSW	1	105,585,359 (GRCm39)	missense	probably benign	0.03
Z1177:Pign	UTSW	1	105,585,545 (GRCm39)	start codon destroyed	probably null	0.98

Predicted Primers

PCR Primer
(F):5'- GAAAGGTGCTCTGGAGTTTCC -3'
(R):5'- AGGATTTCCTGTGAATGAGCCTAAC -3'

Sequencing Primer
(F):5'- GGCCATCAGCAACAAATAG -3'
(R):5'- GAGCCTAACTAATTTTTCAGTGCC -3'

Posted On

2014-12-04