Incidental Mutation 'IGL00158:Ganab'
ID716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ganab
Ensembl Gene ENSMUSG00000071650
Gene Namealpha glucosidase 2 alpha neutral subunit
SynonymsG2an, GluII
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.870) question?
Stock #IGL00158
Quality Score
Status
Chromosome19
Chromosomal Location8898090-8916663 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 8902595 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 73 (A73S)
Ref Sequence ENSEMBL: ENSMUSP00000093965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096246] [ENSMUST00000096249]
Predicted Effect probably benign
Transcript: ENSMUST00000096246
AA Change: A73S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: A73S

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 157 169 N/A INTRINSIC
Pfam:Gal_mutarotas_2 275 346 3.9e-24 PFAM
Pfam:Glyco_hydro_31 387 832 8.7e-136 PFAM
low complexity region 888 898 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096249
SMART Domains Protein: ENSMUSP00000093968
Gene: ENSMUSG00000071652

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
Pfam:INTS5_N 29 252 1e-82 PFAM
low complexity region 254 267 N/A INTRINSIC
Pfam:INTS5_C 289 998 2.2e-249 PFAM
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 the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik T C 11: 76,003,366 S190P probably benign Het
Abhd3 T A 18: 10,647,869 D300V possibly damaging Het
Agap1 A G 1: 89,663,796 probably benign Het
Best3 A G 10: 117,004,541 probably benign Het
Cfap43 T G 19: 47,830,475 I125L probably benign Het
Cntn1 A G 15: 92,250,877 E335G possibly damaging Het
Csmd3 A T 15: 48,287,495 S396T possibly damaging Het
Cxxc5 T G 18: 35,860,692 *318G probably null Het
Dpep3 T C 8: 105,979,147 T49A probably benign Het
Elf1 T A 14: 79,580,349 M436K possibly damaging Het
Ephx2 T G 14: 66,092,837 I310L probably benign Het
Fancm A G 12: 65,075,736 T11A possibly damaging Het
Glp1r T G 17: 30,901,917 L14R possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Krtap9-1 C T 11: 99,873,854 P139S unknown Het
L2hgdh T C 12: 69,701,434 D306G possibly damaging Het
Lrriq4 A G 3: 30,650,955 probably null Het
Mbd3 T G 10: 80,393,883 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mug1 T C 6: 121,865,809 S585P probably damaging Het
Nat8f4 C A 6: 85,900,987 A185S probably benign Het
Nlrc5 C T 8: 94,502,211 probably benign Het
Olfr874 T A 9: 37,746,389 I85N possibly damaging Het
Olfr937 T A 9: 39,059,863 M268L probably benign Het
Peg3 T A 7: 6,710,274 I650F probably benign Het
Prom1 A T 5: 44,055,937 N142K probably damaging Het
Qser1 T A 2: 104,766,056 D1537V probably damaging Het
Rbm44 T A 1: 91,157,109 D684E probably benign Het
Rnf19a A C 15: 36,265,802 S50A probably damaging Het
Rnf31 A G 14: 55,592,319 probably null Het
Rspry1 A G 8: 94,622,986 M1V probably null Het
Rspry1 A T 8: 94,622,980 probably benign Het
Sap130 C A 18: 31,698,766 P769T probably benign Het
Slc22a16 T A 10: 40,595,282 M483K probably damaging Het
Slc27a1 T C 8: 71,584,772 probably null Het
Slc35a5 A T 16: 45,152,608 C65* probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Ubqlnl T C 7: 104,149,165 E375G probably benign Het
Uggt2 G A 14: 119,049,276 T692I possibly damaging Het
Vmn1r211 A T 13: 22,852,102 C132S probably benign Het
Vmn2r61 A T 7: 42,300,751 N865I possibly damaging Het
Vmn2r73 A T 7: 85,857,587 M839K probably benign Het
Xrn2 T A 2: 147,036,750 S455R probably benign Het
Zan T A 5: 137,454,257 T1521S unknown Het
Zfp326 A G 5: 105,907,045 M361V possibly damaging Het
Zfp472 A G 17: 32,977,524 Y191C possibly damaging Het
Other mutations in Ganab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Ganab APN 19 8907343 missense probably damaging 1.00
IGL01415:Ganab APN 19 8914694 splice site probably benign
IGL02418:Ganab APN 19 8911069 missense probably null 0.97
IGL02886:Ganab APN 19 8911027 splice site probably benign
IGL02997:Ganab APN 19 8915412 missense probably benign 0.00
IGL03108:Ganab APN 19 8912476 missense probably damaging 1.00
R0240:Ganab UTSW 19 8912813 missense possibly damaging 0.58
R0240:Ganab UTSW 19 8912813 missense possibly damaging 0.58
R0349:Ganab UTSW 19 8911652 missense probably null 0.11
R0457:Ganab UTSW 19 8907250 missense possibly damaging 0.92
R0551:Ganab UTSW 19 8907280 missense probably benign 0.35
R0645:Ganab UTSW 19 8911113 missense probably damaging 1.00
R0652:Ganab UTSW 19 8915402 critical splice acceptor site probably null
R0688:Ganab UTSW 19 8911113 missense probably damaging 1.00
R0726:Ganab UTSW 19 8911113 missense probably damaging 1.00
R1427:Ganab UTSW 19 8915666 missense probably benign 0.00
R1946:Ganab UTSW 19 8910808 missense probably damaging 1.00
R1955:Ganab UTSW 19 8911616 nonsense probably null
R2173:Ganab UTSW 19 8902260 unclassified probably benign
R2280:Ganab UTSW 19 8909468 missense probably damaging 1.00
R2281:Ganab UTSW 19 8909468 missense probably damaging 1.00
R4897:Ganab UTSW 19 8914991 missense probably benign 0.07
R5224:Ganab UTSW 19 8910591 missense probably benign 0.35
R5269:Ganab UTSW 19 8911937 missense probably damaging 1.00
R5323:Ganab UTSW 19 8908685 missense probably benign 0.00
R5850:Ganab UTSW 19 8911707 missense probably damaging 1.00
R6469:Ganab UTSW 19 8902632 critical splice donor site probably null
R6911:Ganab UTSW 19 8907788 intron probably null
R7284:Ganab UTSW 19 8912540 missense probably damaging 1.00
R7412:Ganab UTSW 19 8912528 missense probably benign 0.01
R7413:Ganab UTSW 19 8904975 missense probably benign 0.01
R7466:Ganab UTSW 19 8914569 nonsense probably null
R7586:Ganab UTSW 19 8911352 missense possibly damaging 0.76
R7657:Ganab UTSW 19 8907357 missense probably damaging 0.99
R7671:Ganab UTSW 19 8912852 missense possibly damaging 0.94
R7729:Ganab UTSW 19 8914712 missense probably benign 0.24
Posted On2011-07-12