Incidental Mutation 'R6025:Pigz'
ID480001
Institutional Source Beutler Lab
Gene Symbol Pigz
Ensembl Gene ENSMUSG00000045625
Gene Namephosphatidylinositol glycan anchor biosynthesis, class Z
Synonyms
MMRRC Submission 044197-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #R6025 (G1)
Quality Score198.009
Status Not validated
Chromosome16
Chromosomal Location31933851-31946046 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31945710 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 529 (S529P)
Ref Sequence ENSEMBL: ENSMUSP00000057509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023460] [ENSMUST00000052174] [ENSMUST00000115178] [ENSMUST00000126215] [ENSMUST00000134666] [ENSMUST00000134928] [ENSMUST00000151412] [ENSMUST00000202722]
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 damaging
Transcript: ENSMUST00000052174
AA Change: S529P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057509
Gene: ENSMUSG00000045625
AA Change: S529P

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: 99.5%
  • 10x: 97.4%
  • 20x: 92.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik GC G 11: 59,210,313 probably null Het
Acvr1b C A 15: 101,194,975 D166E probably benign Het
Adgra2 T C 8: 27,114,463 I522T probably damaging Het
Adgre4 C T 17: 55,792,013 S173L probably benign Het
Akap9 A T 5: 4,032,801 Q1975L probably damaging Het
Ap3d1 T A 10: 80,710,464 M965L probably benign Het
Brca2 CATA CA 5: 150,541,575 probably null Het
Chd6 T C 2: 160,965,582 N1904S probably benign Het
Clstn3 A T 6: 124,431,664 S896R possibly damaging Het
Col6a3 T A 1: 90,828,102 D155V probably damaging Het
Dct T C 14: 118,036,464 T344A possibly damaging Het
Dctn1 T A 6: 83,193,691 probably null Het
Dgkz T C 2: 91,945,910 T3A possibly damaging Het
Duoxa2 T C 2: 122,301,851 S249P possibly damaging Het
Ehbp1 A T 11: 22,239,156 V82E probably damaging Het
Fam71e2 T A 7: 4,758,144 D523V probably benign Het
Fcho1 A T 8: 71,712,573 probably null Het
Ifi213 T A 1: 173,595,234 N22Y probably damaging Het
Kcnq1 T A 7: 143,106,433 probably benign Het
Kif7 T A 7: 79,704,640 Q799L probably benign Het
Lmnb1 T A 18: 56,729,384 L206* probably null Het
Lonp2 G T 8: 86,713,373 G247V probably damaging Het
Ly75 T C 2: 60,375,962 Y121C probably damaging Het
Mboat1 C A 13: 30,224,526 T224K probably benign Het
Mcm9 T C 10: 53,615,977 E416G possibly damaging Het
Mtnr1b A T 9: 15,862,797 I322N probably damaging Het
Nanog G A 6: 122,713,391 G227R possibly damaging Het
Nbn T C 4: 15,981,347 S480P probably damaging Het
Nek10 C A 14: 14,865,633 L638M probably benign Het
Nelfcd T C 2: 174,426,818 V538A probably damaging Het
Olfr124 T G 17: 37,805,421 I92S probably damaging Het
Olfr1447 T A 19: 12,901,670 T37S probably benign Het
Olfr393 A T 11: 73,847,919 S69T probably benign Het
Olfr69 T C 7: 103,768,209 I63V probably benign Het
Phf24 G A 4: 42,938,780 probably null Het
Pik3r5 A G 11: 68,492,318 E321G probably damaging Het
Plcb3 G A 19: 6,956,179 T926I probably benign Het
Pm20d2 G A 4: 33,181,833 P257S probably damaging Het
Pon2 A G 6: 5,289,057 V34A probably benign Het
Prkar2b A G 12: 32,060,856 F76S possibly damaging Het
Prpf31 G A 7: 3,639,669 E414K probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,579,908 probably benign Het
Setbp1 A T 18: 78,859,240 L404Q probably damaging Het
Slc26a11 C T 11: 119,374,828 A389V probably damaging Het
Slc2a1 A T 4: 119,136,342 T459S possibly damaging Het
Spi1 T C 2: 91,114,340 L135P probably benign Het
Sspo T C 6: 48,486,786 L3844P possibly damaging Het
Stxbp5 T A 10: 9,800,028 T616S probably benign Het
Syde2 A G 3: 146,007,141 probably null Het
Synm G T 7: 67,734,938 A550D possibly damaging Het
Tanc2 G A 11: 105,867,717 R768Q probably damaging Het
Tanc2 T C 11: 105,896,547 V891A possibly damaging Het
Tlx1 A T 19: 45,155,974 Q45L probably damaging Het
Tmem104 C A 11: 115,205,523 Y191* probably null Het
Tmem17 A C 11: 22,518,659 *199C probably null Het
Tns3 A T 11: 8,492,578 M595K possibly damaging Het
Tyk2 A G 9: 21,115,960 V538A probably benign Het
Unc80 A G 1: 66,695,568 D3250G possibly damaging Het
Usp4 A G 9: 108,360,123 H130R possibly damaging Het
Zfhx2 T C 14: 55,065,208 Q1773R probably benign Het
Zfp790 A G 7: 29,829,545 K552E possibly damaging Het
Zswim5 G A 4: 116,950,909 R230Q probably damaging Het
Other mutations in Pigz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02697:Pigz APN 16 31944759 unclassified probably null
IGL02963:Pigz APN 16 31944535 missense probably damaging 0.99
R0884:Pigz UTSW 16 31941976 utr 5 prime probably null
R1252:Pigz UTSW 16 31941990 missense possibly damaging 0.49
R1776:Pigz UTSW 16 31944579 missense probably damaging 0.99
R4744:Pigz UTSW 16 31945333 missense probably damaging 1.00
R5480:Pigz UTSW 16 31944621 missense probably damaging 0.97
R5793:Pigz UTSW 16 31945467 missense probably benign 0.00
R5905:Pigz UTSW 16 31945428 missense probably benign 0.26
R6251:Pigz UTSW 16 31945606 missense possibly damaging 0.94
R6297:Pigz UTSW 16 31944937 missense probably damaging 1.00
R6735:Pigz UTSW 16 31945543 missense probably benign 0.01
R6770:Pigz UTSW 16 31945750 missense probably damaging 1.00
R6855:Pigz UTSW 16 31945218 missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CTGTGTCAAGCCCTGAACAAC -3'
(R):5'- CAGATCTTTGGTTGTCTAAGGCAG -3'

Sequencing Primer
(F):5'- TGAACAACTTCAGCAGACAACCTG -3'
(R):5'- ATGTGGGCTCGCCTAAAAC -3'
Posted On2017-06-26