Incidental Mutation 'IGL02416:Pigb'
ID292459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigb
Ensembl Gene ENSMUSG00000079469
Gene Namephosphatidylinositol glycan anchor biosynthesis, class B
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.800) question?
Stock #IGL02416
Quality Score
Status
Chromosome9
Chromosomal Location73007419-73040378 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73017432 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 482 (S482P)
Ref Sequence ENSEMBL: ENSMUSP00000139076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037977] [ENSMUST00000085350] [ENSMUST00000093819] [ENSMUST00000098566] [ENSMUST00000124008] [ENSMUST00000140675] [ENSMUST00000149692] [ENSMUST00000150826] [ENSMUST00000183746] [ENSMUST00000184035] [ENSMUST00000184389]
Predicted Effect probably benign
Transcript: ENSMUST00000037977
SMART Domains Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
low complexity region 187 209 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
coiled coil region 296 450 N/A INTRINSIC
low complexity region 566 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085350
SMART Domains Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
low complexity region 187 209 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
coiled coil region 296 450 N/A INTRINSIC
low complexity region 566 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093819
Predicted Effect probably benign
Transcript: ENSMUST00000098566
AA Change: S482P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469
AA Change: S482P

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 51 438 4.7e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124008
SMART Domains Protein: ENSMUSP00000121059
Gene: ENSMUSG00000034563

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138466
Predicted Effect probably benign
Transcript: ENSMUST00000140675
SMART Domains Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
low complexity region 187 209 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
coiled coil region 296 450 N/A INTRINSIC
low complexity region 566 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149692
SMART Domains Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865

DomainStartEndE-ValueType
Pfam:CS 6 77 2.1e-9 PFAM
coiled coil region 101 161 N/A INTRINSIC
Pfam:TPR_11 286 352 2e-14 PFAM
Pfam:TPR_1 322 352 5.6e-6 PFAM
Blast:TPR 364 386 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000150826
SMART Domains Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
low complexity region 187 209 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
coiled coil region 296 450 N/A INTRINSIC
low complexity region 566 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183746
AA Change: S482P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469
AA Change: S482P

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 51 438 3.9e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183904
Predicted Effect probably benign
Transcript: ENSMUST00000184035
AA Change: S482P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469
AA Change: S482P

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 51 438 3.9e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184389
AA Change: S482P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469
AA Change: S482P

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 51 438 3.9e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184776
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,572,833 N227S probably null Het
Adgrf5 T G 17: 43,444,980 probably null Het
Arid2 G A 15: 96,350,055 G116D possibly damaging Het
Arsa T A 15: 89,474,788 H225L probably damaging Het
Atf6 T A 1: 170,747,157 K571* probably null Het
Bicdl1 A C 5: 115,663,885 L38R probably damaging Het
Cct4 T C 11: 23,002,868 S515P probably damaging Het
Celsr3 A C 9: 108,832,119 D1388A probably damaging Het
Clca2 T C 3: 145,085,016 T432A probably benign Het
Des T A 1: 75,362,728 probably null Het
Dock11 T A X: 36,020,086 V1119E probably damaging Het
Dysf A G 6: 84,192,914 N1763S possibly damaging Het
Emilin1 A G 5: 30,917,788 S458G possibly damaging Het
Fhdc1 T G 3: 84,445,228 M897L probably benign Het
Foxj1 T C 11: 116,332,003 S325G probably benign Het
Gm5407 A G 16: 49,296,887 noncoding transcript Het
Gm6576 T C 15: 27,025,987 noncoding transcript Het
Hells G A 19: 38,964,627 S743N probably benign Het
Ighv2-9-1 A T 12: 113,770,111 L30Q probably damaging Het
Iqgap1 A T 7: 80,726,038 L1363H probably damaging Het
Lrp2 T C 2: 69,469,633 D3025G probably damaging Het
Mef2d C T 3: 88,156,502 R79C probably damaging Het
Mical1 G T 10: 41,484,810 probably null Het
Micu2 A T 14: 57,923,965 V300E probably damaging Het
Mmgt2 T C 11: 62,664,877 L17P probably damaging Het
Olfr1182 A G 2: 88,446,830 I36T probably benign Het
Olfr371 T A 8: 85,231,033 C179* probably null Het
Olfr873 A T 9: 20,300,245 E15V probably benign Het
Pkd1l2 T A 8: 117,040,835 T1239S possibly damaging Het
Pou1f1 T C 16: 65,531,956 I187T probably damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rabgap1 T C 2: 37,561,950 I954T probably benign Het
Scube3 T G 17: 28,164,136 C429W probably damaging Het
Slco6b1 T A 1: 96,924,333 noncoding transcript Het
Strc A T 2: 121,369,058 I1300N probably damaging Het
Tdrd6 T A 17: 43,624,738 R1806S probably benign Het
Trpm8 T A 1: 88,360,716 L860Q probably damaging Het
Vmn1r8 A G 6: 57,036,620 R219G probably damaging Het
Wdr48 A G 9: 119,924,760 S649G probably damaging Het
Other mutations in Pigb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Pigb APN 9 73022291 missense probably damaging 0.98
IGL01792:Pigb APN 9 73017986 missense probably damaging 1.00
R2396:Pigb UTSW 9 73015271 nonsense probably null
R2914:Pigb UTSW 9 73039778 unclassified probably null
R3830:Pigb UTSW 9 73017473 missense probably benign 0.03
R5048:Pigb UTSW 9 73029708 critical splice acceptor site probably null
R5158:Pigb UTSW 9 73022401 missense probably damaging 1.00
R5180:Pigb UTSW 9 73034590 missense probably damaging 0.99
R5385:Pigb UTSW 9 73039545 missense probably benign 0.05
R5866:Pigb UTSW 9 73029684 missense probably damaging 1.00
R7460:Pigb UTSW 9 73038675 missense probably damaging 0.99
R7552:Pigb UTSW 9 73034488 missense probably benign 0.30
R8005:Pigb UTSW 9 73015264 missense unknown
R8136:Pigb UTSW 9 73022320 missense possibly damaging 0.77
Z1176:Pigb UTSW 9 73034572 missense probably benign
Posted On2015-04-16