Incidental Mutation 'R4393:Pign'
ID 326451
Institutional Source Beutler Lab
Gene Symbol Pign
Ensembl Gene ENSMUSG00000056536
Gene Name phosphatidylinositol glycan anchor biosynthesis, class N
Synonyms
MMRRC Submission 041128-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R4393 (G1)
Quality Score 181
Status Validated
Chromosome 1
Chromosomal Location 105446147-105591402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105449751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 925 (K925R)
Ref Sequence ENSEMBL: ENSMUSP00000139638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070699] [ENSMUST00000186485]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070699
AA Change: K925R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: K925R

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 benign
Transcript: ENSMUST00000186485
AA Change: K925R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: K925R

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 0.0598 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 95% (71/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik C A 9: 3,134,944 (GRCm39) noncoding transcript Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Adgrl1 T C 8: 84,665,222 (GRCm39) V1353A probably benign Het
Cep68 A T 11: 20,188,544 (GRCm39) N620K probably benign Het
Clcnkb A G 4: 141,139,547 (GRCm39) S152P probably benign Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Cyp26c1 G A 19: 37,675,105 (GRCm39) R142H probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg5 T A 14: 24,228,057 (GRCm39) probably null Het
Dnai7 T C 6: 145,140,304 (GRCm39) T166A possibly damaging Het
Ebf3 C T 7: 136,826,886 (GRCm39) R342H probably damaging Het
Ece2 T C 16: 20,451,598 (GRCm39) V380A probably damaging Het
Epb41l4a C T 18: 34,024,473 (GRCm39) probably null Het
Erbb3 G T 10: 128,408,639 (GRCm39) Q815K probably damaging Het
Ercc3 T A 18: 32,398,674 (GRCm39) M651K probably benign Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Foxp2 A C 6: 15,377,689 (GRCm39) probably benign Het
Gdf10 T C 14: 33,654,695 (GRCm39) Y401H probably damaging Het
Gm21738 G C 14: 19,417,178 (GRCm38) L117V probably benign Het
Gm6408 A T 5: 146,419,147 (GRCm39) D54V probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Hcn4 A G 9: 58,751,583 (GRCm39) E403G unknown Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Il11ra1 T C 4: 41,768,577 (GRCm39) probably null Het
Immt T A 6: 71,849,784 (GRCm39) S435T probably benign Het
Kcnip2 A G 19: 45,800,669 (GRCm39) L19P probably benign Het
Kctd2 T C 11: 115,320,326 (GRCm39) probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mdn1 C T 4: 32,754,482 (GRCm39) T4666M possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Msl2 A G 9: 100,978,676 (GRCm39) E350G probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3a A T 2: 22,467,866 (GRCm39) K373N probably damaging Het
Nr5a1 T C 2: 38,584,231 (GRCm39) E396G probably damaging Het
Ogdh G A 11: 6,266,772 (GRCm39) G141D probably damaging Het
Or10q1b T C 19: 13,682,554 (GRCm39) I121T possibly damaging Het
Or2h2c T C 17: 37,424,971 (GRCm39) probably benign Het
Or5w1b A T 2: 87,476,256 (GRCm39) C70* probably null Het
Orc2 C A 1: 58,506,809 (GRCm39) probably null Het
P4ha3 C T 7: 99,954,814 (GRCm39) P291S probably benign Het
Plekhm1 A G 11: 103,267,791 (GRCm39) S727P possibly damaging Het
Prr36 G T 8: 4,264,901 (GRCm39) probably benign Het
Prrt3 A G 6: 113,471,907 (GRCm39) L755P probably benign Het
Secisbp2 A G 13: 51,808,502 (GRCm39) H89R probably damaging Het
Sgms2 A T 3: 131,135,466 (GRCm39) probably null Het
Slc35d3 T C 10: 19,725,352 (GRCm39) probably null Het
Slu7 T A 11: 43,330,096 (GRCm39) N174K possibly damaging Het
Teddm1a G T 1: 153,768,192 (GRCm39) D219Y probably damaging Het
Tgtp1 C A 11: 48,878,450 (GRCm39) G85V probably damaging Het
Tmem51 T C 4: 141,759,242 (GRCm39) T169A probably benign Het
Tmem69 C T 4: 116,411,964 (GRCm39) probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Vwa3b T C 1: 37,084,259 (GRCm39) V144A probably damaging Het
Zdhhc21 A G 4: 82,765,891 (GRCm39) C15R possibly damaging Het
Zfp142 T C 1: 74,611,219 (GRCm39) T756A probably benign Het
Zfp606 C T 7: 12,226,776 (GRCm39) S241F probably damaging Het
Zfp804a A T 2: 82,087,265 (GRCm39) T365S 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
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
Predicted Primers PCR Primer
(F):5'- CATGCATGACATATGTGCAAGT -3'
(R):5'- GATGTCTCATTTAAATCATTGGTACCT -3'

Sequencing Primer
(F):5'- TGGGTTCCAGGGATCAAACTC -3'
(R):5'- CAGCATCAGCCACTATGT -3'
Posted On 2015-07-06