Incidental Mutation 'IGL00485:Pign'
ID 7398
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: 0.838) question?
Stock # IGL00485
Quality Score
Status
Chromosome 1
Chromosomal Location 105446147-105591402 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 105525448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 460 (L460*)
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
AA Change: L460*
SMART Domains Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: L460*

DomainStartEndE-ValueType
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: ENSMUST00000186485
AA Change: L460*
SMART Domains Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: L460*

DomainStartEndE-ValueType
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
AA Change: L460*
SMART Domains Protein: ENSMUSP00000140020
Gene: ENSMUSG00000056536
AA Change: L460*

DomainStartEndE-ValueType
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
AA Change: L460*
SMART Domains Protein: ENSMUSP00000140844
Gene: ENSMUSG00000056536
AA Change: L460*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,383,497 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Col4a2 A G 8: 11,489,012 (GRCm39) M1133V probably benign Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Pam A G 1: 97,750,678 (GRCm39) V914A possibly damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pramel31 G A 4: 144,090,012 (GRCm39) V351I probably damaging Het
Prdm10 A T 9: 31,238,842 (GRCm39) I196F possibly damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Unc5b T C 10: 60,618,995 (GRCm39) Y49C possibly damaging Het
Urb2 T C 8: 124,755,433 (GRCm39) I380T probably damaging Het
Zfyve27 T A 19: 42,171,872 (GRCm39) C229S probably benign Het
Other mutations in Pign
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20