Mutagenetix > Incidental Mutation

Incidental Mutation 'R6566:Pign'

522653

Institutional Source

Beutler Lab

Gene Symbol

Pign

Ensembl Gene

ENSMUSG00000056536

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class N

Synonyms

MMRRC Submission

044690-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.844) question?

Stock #

R6566 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105446147-105591402 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 105565906 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 null
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 null
Transcript: ENSMUST00000186195

Predicted Effect

probably null
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 null
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 null
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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,075,321 (GRCm39)	I164T	probably damaging	Het
Adad2	C	T	8: 120,340,971 (GRCm39)	P164S	probably benign	Het
Adcy3	T	A	12: 4,244,324 (GRCm39)	L278H	probably damaging	Het
Aldh16a1	A	C	7: 44,792,651 (GRCm39)	D670E	probably benign	Het
Bcat1	A	G	6: 144,961,210 (GRCm39)	M131T	probably damaging	Het
Dcstamp	T	C	15: 39,617,732 (GRCm39)	F47S	possibly damaging	Het
Dsg1b	T	C	18: 20,530,499 (GRCm39)	F385L	probably damaging	Het
Exoc8	A	C	8: 125,622,783 (GRCm39)	L528R	probably damaging	Het
Fat4	T	C	3: 39,011,275 (GRCm39)	V2125A	possibly damaging	Het
Gm57859	C	T	11: 113,578,824 (GRCm39)	P73L	probably damaging	Het
Hecw1	T	C	13: 14,471,868 (GRCm39)	D600G	probably damaging	Het
Ice2	G	A	9: 69,323,511 (GRCm39)	V669I	probably benign	Het
Khdc4	C	T	3: 88,618,961 (GRCm39)	T555M	probably damaging	Het
Lsr	T	A	7: 30,671,508 (GRCm39)	Y75F	possibly damaging	Het
Mrps30	C	A	13: 118,523,662 (GRCm39)	V37L	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or6c217	T	A	10: 129,737,947 (GRCm39)	I211L	probably benign	Het
Plcd3	A	G	11: 102,964,626 (GRCm39)	Y582H	probably damaging	Het
Rad9b	A	G	5: 122,490,630 (GRCm39)	W29R	probably damaging	Het
Rb1cc1	T	A	1: 6,319,316 (GRCm39)	F912I	probably benign	Het
Rgs16	C	T	1: 153,619,546 (GRCm39)	S184L	unknown	Het
Runx2	A	G	17: 45,125,375 (GRCm39)		probably null	Het
Serpina1f	T	A	12: 103,659,794 (GRCm39)	I163F	probably damaging	Het
Serpina9	T	C	12: 103,963,296 (GRCm39)	E404G	possibly damaging	Het
Slc4a4	T	C	5: 89,297,192 (GRCm39)	S511P	possibly damaging	Het
Speg	A	T	1: 75,365,107 (GRCm39)	E390V	probably damaging	Het
Syne3	A	G	12: 104,912,966 (GRCm39)	V614A	probably benign	Het
Tmc5	T	C	7: 118,247,067 (GRCm39)	S524P	probably damaging	Het
Tuba4a	G	A	1: 75,193,930 (GRCm39)	T51I	probably damaging	Het
Tymp	T	A	15: 89,257,803 (GRCm39)	T421S	probably benign	Het
Uvssa	A	G	5: 33,549,520 (GRCm39)	R394G	possibly damaging	Het
Wdr7	T	G	18: 63,888,126 (GRCm39)	I533S	possibly damaging	Het
Zbtb5	G	A	4: 44,994,508 (GRCm39)	T292M	probably damaging	Het
Zfp944	T	G	17: 22,558,726 (GRCm39)	K174Q	possibly 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
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
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
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'- GGCAATTGTGTGCACTCTAAC -3'
(R):5'- CCTTTAACCATTGAGCAGTAAGC -3'

Sequencing Primer
(F):5'- GTGTGCACTCTAACTATTCCCTAAAG -3'
(R):5'- CCAGATGAGTGCCTGATGCTCTAAG -3'

Posted On

2018-06-06