Incidental Mutation 'R6855:Pigz'
ID 535220
Institutional Source Beutler Lab
Gene Symbol Pigz
Ensembl Gene ENSMUSG00000045625
Gene Name phosphatidylinositol glycan anchor biosynthesis, class Z
Synonyms F630022B06Rik
MMRRC Submission 045024-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6855 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 31752669-31764864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31764036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 365 (I365V)
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 possibly damaging
Transcript: ENSMUST00000052174
AA Change: I365V

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057509
Gene: ENSMUSG00000045625
AA Change: I365V

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (57/57)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,114,844 (GRCm39) S228F probably damaging Het
Cdh23 A T 10: 60,141,901 (GRCm39) M3062K possibly damaging Het
Cdh8 G C 8: 99,916,849 (GRCm39) S422C probably damaging Het
Col15a1 G T 4: 47,245,544 (GRCm39) K98N probably damaging Het
Cyp3a57 T A 5: 145,309,376 (GRCm39) L238H probably damaging Het
Dchs2 G A 3: 83,255,501 (GRCm39) R2399H probably benign Het
Dennd4c A C 4: 86,754,694 (GRCm39) H1568P probably benign Het
Dkk2 T G 3: 131,883,683 (GRCm39) C194W probably damaging Het
Dnm2 C T 9: 21,387,881 (GRCm39) R369C probably damaging Het
Efcab7 T G 4: 99,757,777 (GRCm39) L308* probably null Het
Elp2 T A 18: 24,739,934 (GRCm39) N53K possibly damaging Het
Eml6 T C 11: 29,701,381 (GRCm39) probably null Het
Erich3 G T 3: 154,468,286 (GRCm39) E913* probably null Het
Fam186a T A 15: 99,852,756 (GRCm39) Y154F unknown Het
Fhl3 G A 4: 124,601,315 (GRCm39) D113N probably benign Het
Fryl A T 5: 73,216,843 (GRCm39) M2149K probably damaging Het
Gbf1 T C 19: 46,268,380 (GRCm39) Y1251H probably benign Het
Ghitm C A 14: 36,847,859 (GRCm39) G262W probably null Het
Gm14325 T A 2: 177,474,635 (GRCm39) H148L probably damaging Het
Grxcr1 C A 5: 68,189,437 (GRCm39) N69K possibly damaging Het
Itprid2 C T 2: 79,488,049 (GRCm39) R711C probably damaging Het
Kcnma1 A G 14: 23,417,679 (GRCm39) I846T probably damaging Het
Lama1 A G 17: 68,089,150 (GRCm39) Y1607C possibly damaging Het
Lrp1b G C 2: 40,518,708 (GRCm39) H175D possibly damaging Het
Lrrc2 T A 9: 110,782,250 (GRCm39) probably null Het
Mpp3 A G 11: 101,904,151 (GRCm39) F291L probably benign Het
Nek7 C T 1: 138,443,420 (GRCm39) G178R probably damaging Het
Nfil3 T A 13: 53,122,641 (GRCm39) K88* probably null Het
Nit1 A C 1: 171,171,130 (GRCm39) V194G probably damaging Het
Nup210 T C 6: 91,017,835 (GRCm39) M1052V probably benign Het
Nup210l A G 3: 90,044,231 (GRCm39) T511A probably benign Het
Nwd2 G T 5: 63,961,794 (GRCm39) M459I probably benign Het
Or8k31-ps1 T C 2: 86,356,513 (GRCm39) N3D probably benign Het
Peg3 A C 7: 6,711,797 (GRCm39) S1142A probably benign Het
Phf3 T A 1: 30,859,204 (GRCm39) K959N probably damaging Het
Piezo2 C T 18: 63,223,950 (GRCm39) probably null Het
Plec T A 15: 76,070,818 (GRCm39) Q860L probably damaging Het
Poglut2 C A 1: 44,149,987 (GRCm39) E401* probably null Het
Ppp5c T G 7: 16,740,891 (GRCm39) D359A possibly damaging Het
Pvr C T 7: 19,643,139 (GRCm39) A365T possibly damaging Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Rasa3 A T 8: 13,635,029 (GRCm39) L430Q probably damaging Het
Rims2 T G 15: 39,208,911 (GRCm39) V198G probably benign Het
Rnf38 C T 4: 44,149,224 (GRCm39) R41H probably damaging Het
Rptn G A 3: 93,305,558 (GRCm39) V964I probably benign Het
Rrp1b A G 17: 32,271,719 (GRCm39) D263G probably benign Het
Sgip1 T C 4: 102,819,573 (GRCm39) C560R probably damaging Het
Shisal2b T C 13: 105,000,214 (GRCm39) Q3R probably benign Het
Sidt1 A C 16: 44,065,706 (GRCm39) I734S probably null Het
Ssh1 G T 5: 114,080,636 (GRCm39) D931E probably damaging Het
Thumpd2 C A 17: 81,351,599 (GRCm39) R274I probably damaging Het
Tpi1 T C 6: 124,789,426 (GRCm39) D183G probably damaging Het
Trnt1 T A 6: 106,754,883 (GRCm39) Y205N probably damaging Het
Tsc22d2 G A 3: 58,324,235 (GRCm39) V376M probably damaging Het
Usp34 T C 11: 23,402,569 (GRCm39) V2454A possibly damaging Het
Uspl1 C A 5: 149,124,655 (GRCm39) S24Y probably damaging Het
Vmn1r58 A C 7: 5,413,451 (GRCm39) W260G possibly damaging Het
Vmn2r62 T A 7: 42,438,412 (GRCm39) L141F probably benign Het
Zfp868 A C 8: 70,064,230 (GRCm39) H368Q 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
R7541:Pigz UTSW 16 31,763,949 (GRCm39) missense probably benign 0.00
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'- TCACTCACTTGGCAGTCAATG -3'
(R):5'- GTGTGGACTATCTGCTCCAG -3'

Sequencing Primer
(F):5'- TGCATGCTCAAGCTCTGCAG -3'
(R):5'- GGACTATCTGCTCCAGGTACTTCAG -3'
Posted On 2018-09-12