Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01407:Pign'

79833

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 #

IGL01407

Quality Score

Status

Chromosome

Chromosomal Location

105446147-105591402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105517027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 533 (V533A)

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: V533A

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

SMART Domains

Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: V533A

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: V533A

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

SMART Domains

Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: V533A

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: V533A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140020
Gene: ENSMUSG00000056536
AA Change: V533A

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: V533A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140844
Gene: ENSMUSG00000056536
AA Change: V533A

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,076,288 (GRCm39)	D1140V	probably damaging	Het
Ak1	G	T	2: 32,523,507 (GRCm39)		probably benign	Het
Ano1	A	T	7: 144,190,848 (GRCm39)	L411H	probably benign	Het
Atad2	A	T	15: 57,967,921 (GRCm39)	N569K	probably benign	Het
Bst2	C	A	8: 71,989,830 (GRCm39)	R81L	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Chrna5	C	T	9: 54,911,683 (GRCm39)	T57M	possibly damaging	Het
Cp	A	T	3: 20,031,369 (GRCm39)	D602V	possibly damaging	Het
Drd2	T	C	9: 49,312,115 (GRCm39)	I156T	probably damaging	Het
Elp4	G	A	2: 105,622,653 (GRCm39)	R349W	probably damaging	Het
Eml6	G	A	11: 29,705,021 (GRCm39)	R1508*	probably null	Het
Etl4	T	C	2: 20,748,667 (GRCm39)	L335S	probably damaging	Het
Fat3	A	T	9: 16,289,319 (GRCm39)	I68K	probably benign	Het
Fyco1	G	T	9: 123,657,944 (GRCm39)	A744D	probably damaging	Het
Gm22165	G	T	3: 64,012,886 (GRCm39)		probably benign	Het
Gse1	T	C	8: 121,280,326 (GRCm39)	M1T	probably null	Het
Hs3st5	A	T	10: 36,709,404 (GRCm39)	H313L	probably damaging	Het
Hsd17b3	T	C	13: 64,210,719 (GRCm39)	Y212C	probably damaging	Het
Hyal5	G	T	6: 24,876,406 (GRCm39)	S93I	probably benign	Het
Itgb1	T	C	8: 129,449,315 (GRCm39)	V578A	probably benign	Het
Klf12	A	T	14: 100,347,294 (GRCm39)	N12K	possibly damaging	Het
Krt40	C	T	11: 99,432,045 (GRCm39)	C222Y	probably damaging	Het
Lrrn2	T	C	1: 132,864,965 (GRCm39)	L10P	probably damaging	Het
Lrsam1	T	C	2: 32,837,915 (GRCm39)	Y213C	probably damaging	Het
Mitf	C	A	6: 97,994,892 (GRCm39)	T277K	possibly damaging	Het
Ncan	C	T	8: 70,554,607 (GRCm39)	R1070H	probably benign	Het
Nr4a3	A	G	4: 48,083,201 (GRCm39)	E578G	probably benign	Het
Patj	A	G	4: 98,301,287 (GRCm39)	T191A	possibly damaging	Het
Smad5	G	A	13: 56,883,630 (GRCm39)	V339I	probably benign	Het
Spem2	T	A	11: 69,708,065 (GRCm39)	Y300F	possibly damaging	Het
Trank1	T	G	9: 111,193,790 (GRCm39)	S605A	probably damaging	Het
Treml4	T	A	17: 48,571,877 (GRCm39)	D93E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,924 (GRCm39)	V272E	probably damaging	Het
Vmn2r19	T	A	6: 123,306,826 (GRCm39)	F445I	possibly damaging	Het
Zfp712	T	A	13: 67,190,230 (GRCm39)	Q99L	possibly damaging	Het
Zfp719	A	T	7: 43,233,611 (GRCm39)	K10I	probably benign	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
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

2013-11-05