Incidental Mutation 'R5046:Pign'
ID 394356
Institutional Source Beutler Lab
Gene Symbol Pign
Ensembl Gene ENSMUSG00000056536
Gene Name phosphatidylinositol glycan anchor biosynthesis, class N
Synonyms
MMRRC Submission 042636-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R5046 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 105446147-105591402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105449798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 909 (N909K)
Ref Sequence ENSEMBL: ENSMUSP00000139638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070699] [ENSMUST00000186485]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000070699
AA Change: N909K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: N909K

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 possibly damaging
Transcript: ENSMUST00000186485
AA Change: N909K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: N909K

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 noncoding transcript
Transcript: ENSMUST00000188743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190945
Meta Mutation Damage Score 0.0935 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C A 7: 119,302,597 (GRCm39) H241N probably damaging Het
Arhgap32 G A 9: 32,168,095 (GRCm39) A693T probably damaging Het
B4galnt3 G T 6: 120,191,759 (GRCm39) A658D probably damaging Het
Car12 G A 9: 66,653,895 (GRCm39) E84K probably benign Het
Crocc2 T A 1: 93,133,624 (GRCm39) S969T probably damaging Het
Crym A G 7: 119,794,667 (GRCm39) V184A possibly damaging Het
Cryzl2 T C 1: 157,292,583 (GRCm39) C122R probably damaging Het
Defb30 T C 14: 63,273,463 (GRCm39) E49G probably benign Het
Dnah3 A G 7: 119,550,803 (GRCm39) L3161P probably damaging Het
Dnajc5g A G 5: 31,267,036 (GRCm39) N104S probably benign Het
Fcgr1 T G 3: 96,194,302 (GRCm39) K195T probably damaging Het
Gal C T 19: 3,461,167 (GRCm39) R89H probably damaging Het
Gcfc2 C T 6: 81,925,316 (GRCm39) A577V probably benign Het
Gm5116 A C 7: 32,195,379 (GRCm39) noncoding transcript Het
Golga3 A T 5: 110,340,806 (GRCm39) Q540L probably damaging Het
Hectd1 T C 12: 51,797,171 (GRCm39) E2184G probably damaging Het
Hspa12a T C 19: 58,787,977 (GRCm39) D615G probably damaging Het
Igkv14-130 A T 6: 67,768,465 (GRCm39) Y107F probably damaging Het
Ldlr T A 9: 21,657,203 (GRCm39) probably null Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc37a A T 11: 103,389,066 (GRCm39) S2120T unknown Het
Mtfmt G T 9: 65,346,897 (GRCm39) V164F probably damaging Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Ndufc2 G T 7: 97,056,871 (GRCm39) R120L probably damaging Het
Neo1 A T 9: 58,801,194 (GRCm39) V1156D possibly damaging Het
Nlrp1b G A 11: 71,050,898 (GRCm39) P1065S possibly damaging Het
Nop9 A G 14: 55,983,397 (GRCm39) H56R possibly damaging Het
Or4k41 A T 2: 111,279,934 (GRCm39) T150S probably benign Het
Or6c75 A T 10: 129,337,178 (GRCm39) M142L possibly damaging Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Racgap1 G A 15: 99,526,643 (GRCm39) R307W probably damaging Het
Rap1gds1 C A 3: 138,661,181 (GRCm39) E399* probably null Het
Rwdd4a G A 8: 47,995,837 (GRCm39) probably null Het
Sanbr A C 11: 23,570,354 (GRCm39) M182R probably benign Het
Scp2 T C 4: 107,928,488 (GRCm39) T401A probably benign Het
Sdha A G 13: 74,475,452 (GRCm39) F526S probably damaging Het
Shroom1 T A 11: 53,354,872 (GRCm39) L264Q probably benign Het
Sorl1 T C 9: 41,907,590 (GRCm39) T1466A probably benign Het
Trpm2 C T 10: 77,801,852 (GRCm39) C71Y probably damaging Het
Ugt2b34 G A 5: 87,052,246 (GRCm39) S250L probably benign Het
Vmn2r88 A G 14: 51,650,638 (GRCm39) D117G probably benign Het
Wdr73 A T 7: 80,542,173 (GRCm39) probably benign Het
Other mutations in Pign
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TGCATGACATATGTGCAAGTG -3'
(R):5'- CATTGGTACCTTTTCTAATTCTATGCA -3'

Sequencing Primer
(F):5'- TCCAGGGATCAAACTCAGGTTGTC -3'
(R):5'- TTAATTGGAGGCATCTTGG -3'
Posted On 2016-06-15