Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01953:Pign'

181358

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 #

IGL01953

Quality Score

Status

Chromosome

Chromosomal Location

105446147-105591402 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 105516764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140844 (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

SMART Domains

Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536

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

SMART Domains

Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536

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

SMART Domains

Protein: ENSMUSP00000140020
Gene: ENSMUSG00000056536

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

SMART Domains

Protein: ENSMUSP00000140844
Gene: ENSMUSG00000056536

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	G	A	16: 4,778,408 (GRCm39)	A8V	probably damaging	Het
Atp6v0a4	A	G	6: 38,031,552 (GRCm39)	S650P	probably damaging	Het
B3glct	C	A	5: 149,669,000 (GRCm39)	D311E	probably benign	Het
Cc2d1a	G	A	8: 84,870,607 (GRCm39)	P119S	probably benign	Het
Cdcp3	T	C	7: 130,826,709 (GRCm39)	M261T	probably benign	Het
Chdh	T	C	14: 29,757,304 (GRCm39)	V409A	probably benign	Het
Cipc	T	A	12: 86,999,538 (GRCm39)	V4E	possibly damaging	Het
Dock2	G	T	11: 34,623,183 (GRCm39)	T70K	probably benign	Het
Dpf1	T	C	7: 29,013,732 (GRCm39)	V269A	probably damaging	Het
Drc7	A	T	8: 95,785,753 (GRCm39)	Y203F	probably damaging	Het
Dsg3	C	T	18: 20,658,361 (GRCm39)	T324I	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Iqcd	A	T	5: 120,738,554 (GRCm39)	N124I	probably benign	Het
Kdm7a	T	C	6: 39,123,836 (GRCm39)	N776S	probably benign	Het
Lama5	C	T	2: 179,832,497 (GRCm39)	R1684H	probably damaging	Het
Lrp12	A	T	15: 39,741,497 (GRCm39)	V406D	probably damaging	Het
Lrrc74a	T	A	12: 86,788,494 (GRCm39)	L158Q	probably damaging	Het
Mef2d	C	T	3: 88,063,813 (GRCm39)	T80I	probably damaging	Het
Megf11	T	C	9: 64,597,370 (GRCm39)	C681R	probably damaging	Het
Mex3c	A	G	18: 73,723,104 (GRCm39)	D399G	probably damaging	Het
Muc20	T	C	16: 32,614,073 (GRCm39)	T435A	probably benign	Het
Myo5b	T	C	18: 74,702,838 (GRCm39)	Y10H	possibly damaging	Het
Or12d13	T	C	17: 37,647,766 (GRCm39)	D119G	probably damaging	Het
Or4k40	A	G	2: 111,250,657 (GRCm39)	L213P	probably benign	Het
Otoa	T	A	7: 120,759,548 (GRCm39)		probably null	Het
P4ha2	T	C	11: 54,004,996 (GRCm39)	F124S	probably benign	Het
Phkg2	C	T	7: 127,181,512 (GRCm39)	P232S	probably damaging	Het
Piezo1	T	A	8: 123,217,923 (GRCm39)	Q800L	probably damaging	Het
Pik3r5	A	G	11: 68,384,997 (GRCm39)	D634G	probably benign	Het
Ptpn9	A	G	9: 56,964,072 (GRCm39)	T402A	possibly damaging	Het
Relb	A	C	7: 19,349,482 (GRCm39)		probably null	Het
Scgb1b30	A	G	7: 33,799,302 (GRCm39)	Q78R	probably damaging	Het
Sema6a	C	T	18: 47,423,187 (GRCm39)	W273*	probably null	Het
Sestd1	A	G	2: 77,042,813 (GRCm39)	V247A	possibly damaging	Het
Specc1	T	A	11: 62,009,122 (GRCm39)	S293T	probably benign	Het
Sptbn2	A	G	19: 4,799,721 (GRCm39)	D2145G	probably benign	Het
Trim43b	T	A	9: 88,967,496 (GRCm39)	D380V	possibly damaging	Het
Vmn1r236	A	G	17: 21,507,473 (GRCm39)	Y197C	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,382 (GRCm39)	Y88C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r61	G	A	7: 41,949,613 (GRCm39)	V678M	probably damaging	Het
Wdfy3	A	T	5: 102,042,894 (GRCm39)	Y1937*	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
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

2014-05-07