Incidental Mutation 'R6251:Pigz'
ID 506249
Institutional Source Beutler Lab
Gene Symbol Pigz
Ensembl Gene ENSMUSG00000045625
Gene Name phosphatidylinositol glycan anchor biosynthesis, class Z
Synonyms F630022B06Rik
MMRRC Submission 044368-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6251 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 31752669-31764864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31764424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 494 (V494A)
Ref Sequence ENSEMBL: ENSMUSP00000057509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023460] [ENSMUST00000052174] [ENSMUST00000115178] [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: V494A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057509
Gene: ENSMUSG00000045625
AA Change: V494A

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 7 446 1.3e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115178
SMART Domains Protein: ENSMUSP00000110832
Gene: ENSMUSG00000022774

DomainStartEndE-ValueType
PDB:3FEY|B 1 103 7e-42 PDB
Blast:RRM 41 61 2e-6 BLAST
SCOP:d1qm9a1 41 97 4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126215
Predicted Effect probably benign
Transcript: ENSMUST00000134666
Predicted Effect probably benign
Transcript: ENSMUST00000134928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140965
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,445 (GRCm39) S36P probably damaging Het
Agmo A G 12: 37,302,538 (GRCm39) D125G probably damaging Het
Arhgap26 A T 18: 39,490,880 (GRCm39) S328C probably null Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Asb3 G A 11: 31,005,559 (GRCm39) A192T probably damaging Het
Atp10b A T 11: 43,126,573 (GRCm39) M1110L possibly damaging Het
Cacna1i T C 15: 80,220,883 (GRCm39) I175T probably damaging Het
Car15 A T 16: 17,655,227 (GRCm39) I71N probably benign Het
Casq1 T A 1: 172,044,407 (GRCm39) Y140F probably benign Het
Ccdc93 C T 1: 121,362,269 (GRCm39) T17M possibly damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Ciart G A 3: 95,788,323 (GRCm39) probably benign Het
Cul5 A T 9: 53,558,094 (GRCm39) V170D probably benign Het
Cyb5r3 T C 15: 83,038,917 (GRCm39) D224G probably benign Het
Daam1 G A 12: 72,035,723 (GRCm39) G964R probably damaging Het
Daglb T A 5: 143,475,689 (GRCm39) L383Q probably damaging Het
Dazap2 T G 15: 100,514,864 (GRCm39) H28Q possibly damaging Het
Dnttip2 A T 3: 122,068,905 (GRCm39) D40V probably benign Het
Dynlt2b T A 16: 32,245,727 (GRCm39) D125E possibly damaging Het
Epn1 G T 7: 5,098,925 (GRCm39) D406Y probably damaging Het
Epn1 G T 7: 5,098,935 (GRCm39) R409L probably damaging Het
Evc T C 5: 37,457,843 (GRCm39) T966A probably benign Het
Extl3 T C 14: 65,314,375 (GRCm39) D269G probably damaging Het
Gfra3 TGCGC TGC 18: 34,828,864 (GRCm39) probably null Het
Gpr87 A T 3: 59,086,528 (GRCm39) F326I probably damaging Het
Hivep3 C A 4: 119,952,137 (GRCm39) P151H probably damaging Het
Kcnj14 T A 7: 45,467,440 (GRCm39) E302V probably damaging Het
Kdm5d T C Y: 921,693 (GRCm39) Y534H probably damaging Homo
Map3k5 T A 10: 20,014,006 (GRCm39) probably null Het
Mdn1 A G 4: 32,748,590 (GRCm39) T4212A probably benign Het
Ms4a6d A T 19: 11,564,504 (GRCm39) S122R probably damaging Het
Mtarc1 G A 1: 184,527,648 (GRCm39) R271W probably damaging Het
Nectin3 A T 16: 46,215,513 (GRCm39) H76Q probably damaging Het
Notch1 C A 2: 26,364,182 (GRCm39) E846D possibly damaging Het
Or1e23 A G 11: 73,407,534 (GRCm39) S164P probably benign Het
Or4a67 T C 2: 88,598,632 (GRCm39) E9G probably damaging Het
Or8b36 GTTT GTTTGCTTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TT TTGCTGTGT 9: 37,937,844 (GRCm39) probably null Het
Or8b36 G GGGATTGC 9: 37,937,833 (GRCm39) probably null Het
Or8b36 TGTTT TGTTTGCAGTTT 9: 37,937,841 (GRCm39) probably null Het
Or8g18 T A 9: 39,149,514 (GRCm39) I72F possibly damaging Het
Pfkl C T 10: 77,825,399 (GRCm39) probably null Het
Pik3r4 T C 9: 105,531,247 (GRCm39) V516A probably benign Het
Polr2b G A 5: 77,496,141 (GRCm39) R1104K probably benign Het
Rap1a A T 3: 105,639,311 (GRCm39) L116* probably null Het
Rnf114 T C 2: 167,356,649 (GRCm39) *230R probably null Het
Rtl1 G T 12: 109,560,083 (GRCm39) N585K probably benign Het
Serpinb5 G T 1: 106,802,795 (GRCm39) R110I possibly damaging Het
Spink6 T C 18: 44,207,498 (GRCm39) probably null Het
Spopfm1 G T 3: 94,173,208 (GRCm39) S72I probably damaging Het
Stk39 A T 2: 68,137,383 (GRCm39) probably null Het
Tcstv2a T C 13: 120,724,907 (GRCm39) probably benign Het
Tcte1 A T 17: 45,846,085 (GRCm39) T230S probably benign Het
Tecpr1 C A 5: 144,135,394 (GRCm39) V1020L probably damaging Het
Tmc7 T C 7: 118,160,261 (GRCm39) Y192C possibly damaging Het
Trim63 A T 4: 134,050,537 (GRCm39) T274S probably benign Het
Wdr43 G A 17: 71,957,048 (GRCm39) probably null Het
Zfr T C 15: 12,160,677 (GRCm39) I750T probably benign 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
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
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'- CTGGAGCAGATAGTCCACAC -3'
(R):5'- AGGCGTCTCCAGTTCTATGAC -3'

Sequencing Primer
(F):5'- GAGCAGATAGTCCACACGCCTG -3'
(R):5'- GTCTCCAGTTCTATGACATGGAGAC -3'
Posted On 2018-03-15