Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00770:Pign'

277881

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pign

Ensembl Gene

ENSMUSG00000056536

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class N

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.844) question?

Stock #

IGL00770

Quality Score

Status

Chromosome

Chromosomal Location

105446147-105591402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105525481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 449 (V449A)

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: V449A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: V449A

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

probably benign
Transcript: ENSMUST00000186485
AA Change: V449A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: V449A

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

probably benign
Transcript: ENSMUST00000187537
AA Change: V449A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140020
Gene: ENSMUSG00000056536
AA Change: V449A

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

probably benign
Transcript: ENSMUST00000190811
AA Change: V449A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140844
Gene: ENSMUSG00000056536
AA Change: V449A

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

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,306,776 (GRCm39)	A1397T	possibly damaging	Het
Aldob	A	G	4: 49,536,843 (GRCm39)	S349P	probably benign	Het
Cd2	A	T	3: 101,190,345 (GRCm39)		probably null	Het
Cmtm2a	A	G	8: 105,019,562 (GRCm39)	S43P	probably damaging	Het
Cts6	T	C	13: 61,346,153 (GRCm39)		probably benign	Het
E2f3	A	T	13: 30,102,687 (GRCm39)	D68E	probably damaging	Het
Ect2	G	A	3: 27,152,592 (GRCm39)	R869W	probably damaging	Het
Eml1	A	G	12: 108,480,774 (GRCm39)		probably null	Het
Fundc1	T	A	X: 17,424,252 (GRCm39)		probably null	Het
Gabrb1	G	T	5: 72,265,789 (GRCm39)		probably null	Het
Lrrk2	T	G	15: 91,686,036 (GRCm39)		probably benign	Het
Map3k2	C	T	18: 32,361,292 (GRCm39)	P584L	probably benign	Het
Mindy2	T	C	9: 70,538,315 (GRCm39)	D340G	probably benign	Het
Nav3	T	C	10: 109,652,124 (GRCm39)	D877G	probably damaging	Het
Nol9	T	C	4: 152,136,472 (GRCm39)	S515P	probably benign	Het
Osgepl1	A	G	1: 53,359,405 (GRCm39)	I305V	probably benign	Het
Rad54b	G	A	4: 11,593,765 (GRCm39)	R131K	probably benign	Het
Rgl3	A	T	9: 21,899,018 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,566,197 (GRCm39)	D1407G	probably damaging	Het
Sf3b3	A	T	8: 111,544,270 (GRCm39)	I790N	probably damaging	Het
Srebf1	C	T	11: 60,095,965 (GRCm39)	R358Q	probably damaging	Het
Tmem18	A	G	12: 30,638,720 (GRCm39)	R133G	unknown	Het
Tnfrsf11b	T	G	15: 54,117,468 (GRCm39)	R262S	probably benign	Het
Tsc1	A	T	2: 28,555,023 (GRCm39)	H171L	probably damaging	Het
Ubr5	T	C	15: 38,006,785 (GRCm39)	T1157A	probably benign	Het
Wdcp	A	G	12: 4,905,303 (GRCm39)	E608G	probably damaging	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
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
R2845:Pign	UTSW	1	105,585,521 (GRCm39)	missense	possibly damaging	0.80
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

Posted On

2015-04-16