Incidental Mutation 'R7541:Pigz'
ID 583910
Institutional Source Beutler Lab
Gene Symbol Pigz
Ensembl Gene ENSMUSG00000045625
Gene Name phosphatidylinositol glycan anchor biosynthesis, class Z
Synonyms F630022B06Rik
MMRRC Submission 045613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7541 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 31752669-31764864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31763949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 336 (S336P)
Ref Sequence ENSEMBL: ENSMUSP00000057509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023460] [ENSMUST00000052174] [ENSMUST00000126215] [ENSMUST00000134666] [ENSMUST00000134928] [ENSMUST00000151412] [ENSMUST00000202722]
AlphaFold Q8BTP0
Predicted Effect probably benign
Transcript: ENSMUST00000023460
SMART Domains Protein: ENSMUSP00000023460
Gene: ENSMUSG00000022774

DomainStartEndE-ValueType
RRM 41 114 6.96e-23 SMART
low complexity region 122 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052174
AA Change: S336P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000057509
Gene: ENSMUSG00000045625
AA Change: S336P

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 7 446 1.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126215
Predicted Effect probably benign
Transcript: ENSMUST00000134666
Predicted Effect probably benign
Transcript: ENSMUST00000134928
Predicted Effect probably benign
Transcript: ENSMUST00000151412
Predicted Effect probably benign
Transcript: ENSMUST00000202722
SMART Domains Protein: ENSMUSP00000143811
Gene: ENSMUSG00000107002

DomainStartEndE-ValueType
low complexity region 27 43 N/A INTRINSIC
low complexity region 47 55 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 G A 2: 155,416,610 (GRCm39) probably null Het
Adamts10 G A 17: 33,750,590 (GRCm39) R210H probably benign Het
Als2 T C 1: 59,206,775 (GRCm39) probably null Het
Aplp2 A T 9: 31,063,652 (GRCm39) M652K possibly damaging Het
Atrn A G 2: 130,803,491 (GRCm39) I560M possibly damaging Het
Bicc1 T C 10: 70,782,434 (GRCm39) D602G possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Cd200l2 T A 16: 45,348,855 (GRCm39) T106S possibly damaging Het
Cdh4 A G 2: 179,086,603 (GRCm39) probably null Het
Clasp1 T A 1: 118,470,727 (GRCm39) probably null Het
Col6a6 A G 9: 105,644,523 (GRCm39) I1255T probably damaging Het
Comp G T 8: 70,834,000 (GRCm39) V672L probably damaging Het
Dbnl T G 11: 5,745,486 (GRCm39) D122E probably damaging Het
Dgkz G A 2: 91,773,020 (GRCm39) R346C probably damaging Het
Dnhd1 C T 7: 105,327,516 (GRCm39) R54C probably damaging Het
Elmo3 T C 8: 106,033,346 (GRCm39) I121T probably damaging Het
Fam184b A G 5: 45,699,574 (GRCm39) L614P probably damaging Het
Fbh1 T C 2: 11,754,348 (GRCm39) R797G probably benign Het
Fcgbpl1 T A 7: 27,843,681 (GRCm39) C856* probably null Het
Gata6 A G 18: 11,059,108 (GRCm39) T392A probably damaging Het
Gm29609 A G 5: 31,311,576 (GRCm39) F855S probably benign Het
Gm3424 T C 14: 17,337,195 (GRCm39) N88D possibly damaging Het
Gnas T A 2: 174,139,892 (GRCm39) S80T unknown Het
Hsd17b14 C A 7: 45,215,570 (GRCm39) P190Q probably damaging Het
Iqch C T 9: 63,352,803 (GRCm39) V955I possibly damaging Het
Kcnt2 T C 1: 140,304,122 (GRCm39) V164A probably benign Het
Krt87 A G 15: 101,336,515 (GRCm39) L46P probably damaging Het
Lef1 A G 3: 130,984,748 (GRCm39) M237V probably benign Het
Lmbr1l A T 15: 98,807,267 (GRCm39) probably null Het
Lrrc49 T C 9: 60,517,686 (GRCm39) I408V probably damaging Het
Luc7l3 T C 11: 94,186,791 (GRCm39) S365G unknown Het
Marchf2 A T 17: 33,922,032 (GRCm39) C109* probably null Het
Metrnl T A 11: 121,606,796 (GRCm39) C284S probably damaging Het
Mmachc G A 4: 116,563,082 (GRCm39) T91I probably benign Het
Mrps7 T G 11: 115,497,696 (GRCm39) M187R probably damaging Het
Ncapd3 A G 9: 26,978,336 (GRCm39) E845G probably damaging Het
Nscme3l G A 19: 5,553,439 (GRCm39) P114L probably benign Het
Ooep T A 9: 78,285,347 (GRCm39) T90S possibly damaging Het
Or13c25 A T 4: 52,911,376 (GRCm39) D139E probably benign Het
Or2y1g T A 11: 49,171,160 (GRCm39) F62I probably damaging Het
Pcdhb18 A T 18: 37,624,662 (GRCm39) D664V probably damaging Het
Pou2f2 A T 7: 24,815,553 (GRCm39) D71E probably benign Het
Reep6 G T 10: 80,171,033 (GRCm39) R303L possibly damaging Het
Rmdn2 A T 17: 79,935,297 (GRCm39) S137C Het
Rnf220 A T 4: 117,347,127 (GRCm39) L95H probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Stxbp1 A T 2: 32,708,517 (GRCm39) S83T probably damaging Het
Tcstv7b A T 13: 120,702,515 (GRCm39) M104L probably benign Het
Trappc11 T C 8: 47,958,617 (GRCm39) probably null Het
Ttn G T 2: 76,621,645 (GRCm39) D15598E probably damaging Het
Vav2 T A 2: 27,165,014 (GRCm39) R645W probably damaging Het
Vmn1r169 T A 7: 23,277,412 (GRCm39) V268D probably benign Het
Zp2 A T 7: 119,735,279 (GRCm39) C365S probably damaging Het
Other mutations in Pigz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02697:Pigz APN 16 31,763,577 (GRCm39) splice site probably null
IGL02963:Pigz APN 16 31,763,353 (GRCm39) missense probably damaging 0.99
lust UTSW 16 31,763,755 (GRCm39) missense probably damaging 1.00
R0884:Pigz UTSW 16 31,760,794 (GRCm39) splice site probably null
R1252:Pigz UTSW 16 31,760,808 (GRCm39) missense possibly damaging 0.49
R1776:Pigz UTSW 16 31,763,397 (GRCm39) missense probably damaging 0.99
R4744:Pigz UTSW 16 31,764,151 (GRCm39) missense probably damaging 1.00
R5480:Pigz UTSW 16 31,763,439 (GRCm39) missense probably damaging 0.97
R5793:Pigz UTSW 16 31,764,285 (GRCm39) missense probably benign 0.00
R5905:Pigz UTSW 16 31,764,246 (GRCm39) missense probably benign 0.26
R6025:Pigz UTSW 16 31,764,528 (GRCm39) missense probably damaging 1.00
R6251:Pigz UTSW 16 31,764,424 (GRCm39) missense possibly damaging 0.94
R6297:Pigz UTSW 16 31,763,755 (GRCm39) missense probably damaging 1.00
R6735:Pigz UTSW 16 31,764,361 (GRCm39) missense probably benign 0.01
R6770:Pigz UTSW 16 31,764,568 (GRCm39) missense probably damaging 1.00
R6855:Pigz UTSW 16 31,764,036 (GRCm39) missense possibly damaging 0.85
R8080:Pigz UTSW 16 31,760,858 (GRCm39) missense probably damaging 1.00
R9336:Pigz UTSW 16 31,763,694 (GRCm39) missense probably damaging 1.00
R9402:Pigz UTSW 16 31,764,187 (GRCm39) missense probably damaging 1.00
R9756:Pigz UTSW 16 31,763,787 (GRCm39) missense probably damaging 1.00
Z1177:Pigz UTSW 16 31,763,343 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGTACTACAACCTGGACCCC -3'
(R):5'- CCTGATGCAGGCAACCAAAG -3'

Sequencing Primer
(F):5'- TGGACCCCCAAAACCTTGC -3'
(R):5'- TGAGAGCGCCCAGGATGTTG -3'
Posted On 2019-10-17