Incidental Mutation 'R4387:Pign'
ID 326249
Institutional Source Beutler Lab
Gene Symbol Pign
Ensembl Gene ENSMUSG00000056536
Gene Name phosphatidylinositol glycan anchor biosynthesis, class N
Synonyms
MMRRC Submission 041681-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R4387 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 105446147-105591402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105449785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 914 (L914M)
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: L914M

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: L914M

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: L914M

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: L914M

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,464,693 (GRCm39) probably null Het
Adprm C T 11: 66,929,019 (GRCm39) R324K probably benign Het
Brd10 A G 19: 29,782,715 (GRCm39) probably benign Het
Calcr T A 6: 3,707,581 (GRCm39) N240Y probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cd209b A G 8: 3,975,960 (GRCm39) L67P probably damaging Het
Cp T C 3: 20,031,366 (GRCm39) V601A probably damaging Het
Cyp2a5 A G 7: 26,540,479 (GRCm39) D364G probably damaging Het
Eno4 T A 19: 58,941,640 (GRCm39) V187D probably benign Het
Fbxl7 C A 15: 26,543,345 (GRCm39) S434I probably damaging Het
Fbxw24 A T 9: 109,439,053 (GRCm39) L174Q probably damaging Het
Fryl T A 5: 73,243,903 (GRCm39) R91S possibly damaging Het
Gabrd A G 4: 155,473,389 (GRCm39) probably null Het
Gtpbp2 A G 17: 46,477,284 (GRCm39) D383G probably benign Het
Igf1r A G 7: 67,819,757 (GRCm39) I356V probably benign Het
Kcnc1 C A 7: 46,047,126 (GRCm39) R9S possibly damaging Het
Lipi T A 16: 75,370,843 (GRCm39) I125F probably damaging Het
Meig1 T C 2: 3,410,278 (GRCm39) E74G probably damaging Het
Mgat4d A T 8: 84,098,335 (GRCm39) Q366L probably damaging Het
Mrpl1 A G 5: 96,386,778 (GRCm39) N256D possibly damaging Het
Nlrp4e A G 7: 23,000,902 (GRCm39) K66E probably benign Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Nphp3 A G 9: 103,907,219 (GRCm39) T740A possibly damaging Het
Or5an1c A G 19: 12,218,503 (GRCm39) V174A probably damaging Het
Or8k33 T C 2: 86,384,298 (GRCm39) T57A probably damaging Het
Or8k40 T A 2: 86,584,464 (GRCm39) D206V probably benign Het
Pde5a T C 3: 122,523,001 (GRCm39) I36T probably benign Het
Ppm1b A G 17: 85,322,847 (GRCm39) D382G probably benign Het
Psd3 T C 8: 68,453,413 (GRCm39) Y282C probably damaging Het
Ptprt A T 2: 161,769,570 (GRCm39) Y432N probably damaging Het
Rbbp6 T C 7: 122,596,534 (GRCm39) probably null Het
Recql4 A G 15: 76,590,158 (GRCm39) S659P probably benign Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Shoc1 A T 4: 59,060,915 (GRCm39) C953S possibly damaging Het
Slit3 T C 11: 35,574,875 (GRCm39) V1063A probably benign Het
Spdye4a A G 5: 143,211,378 (GRCm39) V62A probably benign Het
Ttc6 G A 12: 57,689,836 (GRCm39) G509S probably benign Het
Ush2a C T 1: 188,175,628 (GRCm39) T1242M probably benign Het
Wwc2 T C 8: 48,284,681 (GRCm39) S1155G unknown Het
Zfp551 A T 7: 12,152,568 (GRCm39) I55N probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ATGTATACATGCATGACATATGTGCA -3'
(R):5'- CATTGGTACCTTTTCTAATTCTATGCA -3'

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