Incidental Mutation 'R5180:Pigb'
ID 399729
Institutional Source Beutler Lab
Gene Symbol Pigb
Ensembl Gene ENSMUSG00000079469
Gene Name phosphatidylinositol glycan anchor biosynthesis, class B
Synonyms
MMRRC Submission 042760-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R5180 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72920639-72946973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72941872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 129 (I129N)
Ref Sequence ENSEMBL: ENSMUSP00000139076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098566] [ENSMUST00000183746] [ENSMUST00000184035] [ENSMUST00000184389]
AlphaFold Q9JJQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000098566
AA Change: I129N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469
AA Change: I129N

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 51 438 4.7e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183587
Predicted Effect probably damaging
Transcript: ENSMUST00000183746
AA Change: I129N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469
AA Change: I129N

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 51 438 3.9e-122 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000183904
AA Change: D24E
Predicted Effect probably damaging
Transcript: ENSMUST00000184035
AA Change: I129N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469
AA Change: I129N

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 51 438 3.9e-122 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184389
AA Change: I129N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469
AA Change: I129N

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 51 438 3.9e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185027
Meta Mutation Damage Score 0.9231 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,416,510 (GRCm39) T4091A probably benign Het
Adgrv1 G A 13: 81,431,535 (GRCm39) probably benign Het
Ago3 C T 4: 126,261,544 (GRCm39) V435I probably benign Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ampd2 G T 3: 107,986,358 (GRCm39) Q273K probably benign Het
Ankrd35 C A 3: 96,587,789 (GRCm39) H109Q probably damaging Het
Atpaf2 A G 11: 60,296,695 (GRCm39) L153S possibly damaging Het
C1qtnf7 G A 5: 43,773,156 (GRCm39) V152M probably benign Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep295 C T 9: 15,243,416 (GRCm39) C1680Y probably benign Het
Cyp4f15 A T 17: 32,909,714 (GRCm39) I104F probably benign Het
Daam1 A G 12: 71,993,899 (GRCm39) N434S unknown Het
Dab2ip C T 2: 35,610,503 (GRCm39) P782L possibly damaging Het
Dhx34 C A 7: 15,939,405 (GRCm39) G663* probably null Het
Dnah7a T C 1: 53,462,446 (GRCm39) D3715G probably damaging Het
Dnajc11 C T 4: 152,054,396 (GRCm39) R201C probably damaging Het
Erf A T 7: 24,945,690 (GRCm39) I27N probably damaging Het
Fbxl7 T A 15: 26,543,507 (GRCm39) Y380F probably damaging Het
Gm3336 A G 8: 71,173,110 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm5134 T C 10: 75,812,200 (GRCm39) Y152H probably damaging Het
Gm6899 A G 11: 26,543,795 (GRCm39) probably benign Het
Gna11 T C 10: 81,380,707 (GRCm39) K19E probably benign Het
Gpr15 C A 16: 58,538,248 (GRCm39) L280F probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Ino80d C A 1: 63,125,488 (GRCm39) probably benign Het
Irak3 T G 10: 119,981,687 (GRCm39) K406T probably damaging Het
Kif15 G A 9: 122,828,275 (GRCm39) C634Y probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Macrod2 A T 2: 140,237,636 (GRCm39) E14V probably damaging Het
Matn3 T A 12: 9,005,374 (GRCm39) D261E probably benign Het
Mdga1 A T 17: 30,076,710 (GRCm39) probably benign Het
Natd1 G T 11: 60,804,482 (GRCm39) R24S probably benign Het
Ncapd3 T A 9: 26,962,941 (GRCm39) D415E possibly damaging Het
Or5b101 A T 19: 13,004,776 (GRCm39) S306T probably benign Het
Parp9 T A 16: 35,774,106 (GRCm39) Y81* probably null Het
Pde4d A G 13: 109,877,007 (GRCm39) N73S probably benign Het
Plxnb1 C A 9: 108,940,761 (GRCm39) probably null Het
Ppfibp1 G T 6: 146,928,819 (GRCm39) R813L probably damaging Het
Ramp3 T A 11: 6,608,619 (GRCm39) L16Q unknown Het
Slc35a4 T C 18: 36,815,688 (GRCm39) S173P probably benign Het
Slc41a1 T C 1: 131,772,115 (GRCm39) V415A probably damaging Het
Smarcc2 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 10: 128,323,231 (GRCm39) probably benign Het
Snph G A 2: 151,442,307 (GRCm39) R43W probably benign Het
Sptan1 A T 2: 29,883,736 (GRCm39) probably benign Het
Supt20 C A 3: 54,616,506 (GRCm39) H254Q probably benign Het
Taar7a A G 10: 23,869,046 (GRCm39) C112R probably damaging Het
Tbc1d4 T C 14: 101,745,008 (GRCm39) Y206C probably damaging Het
Tecta A G 9: 42,248,504 (GRCm39) V1961A probably damaging Het
Tgfbr1 T A 4: 47,383,948 (GRCm39) Y30* probably null Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tnfrsf1b C A 4: 144,954,067 (GRCm39) C94F probably damaging Het
Ttn A G 2: 76,579,740 (GRCm39) Y23718H probably damaging Het
Ube2i T C 17: 25,484,268 (GRCm39) probably benign Het
Vmn2r16 G T 5: 109,478,391 (GRCm39) V49F probably benign Het
Vps45 A G 3: 95,953,683 (GRCm39) I223T possibly damaging Het
Zfp955a T C 17: 33,461,592 (GRCm39) Y180C probably benign Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably damaging Het
Zscan18 T A 7: 12,509,216 (GRCm39) probably benign Het
Other mutations in Pigb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Pigb APN 9 72,929,573 (GRCm39) missense probably damaging 0.98
IGL01792:Pigb APN 9 72,925,268 (GRCm39) missense probably damaging 1.00
IGL02416:Pigb APN 9 72,924,714 (GRCm39) missense probably benign 0.00
R2396:Pigb UTSW 9 72,922,553 (GRCm39) nonsense probably null
R2914:Pigb UTSW 9 72,947,060 (GRCm39) splice site probably null
R3830:Pigb UTSW 9 72,924,755 (GRCm39) missense probably benign 0.03
R5048:Pigb UTSW 9 72,936,990 (GRCm39) critical splice acceptor site probably null
R5158:Pigb UTSW 9 72,929,683 (GRCm39) missense probably damaging 1.00
R5385:Pigb UTSW 9 72,946,827 (GRCm39) missense probably benign 0.05
R5866:Pigb UTSW 9 72,936,966 (GRCm39) missense probably damaging 1.00
R7460:Pigb UTSW 9 72,945,957 (GRCm39) missense probably damaging 0.99
R7552:Pigb UTSW 9 72,941,770 (GRCm39) missense probably benign 0.30
R8005:Pigb UTSW 9 72,922,546 (GRCm39) missense unknown
R8136:Pigb UTSW 9 72,929,602 (GRCm39) missense possibly damaging 0.77
R8525:Pigb UTSW 9 72,924,809 (GRCm39) missense probably damaging 1.00
R8955:Pigb UTSW 9 72,945,983 (GRCm39) missense probably damaging 0.99
R8988:Pigb UTSW 9 72,929,576 (GRCm39) missense probably damaging 1.00
R9526:Pigb UTSW 9 72,941,840 (GRCm39) missense probably damaging 0.99
Z1176:Pigb UTSW 9 72,941,854 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGTTTATCCCACACATGCG -3'
(R):5'- CCTACGATTACAAAAGGTGAACG -3'

Sequencing Primer
(F):5'- GTGTTTATCCCACACATGCGATACAC -3'
(R):5'- AATCCCCAGTACTTGGTGCTGAG -3'
Posted On 2016-07-06