Incidental Mutation 'IGL02126:Gba2'
ID280892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gba2
Ensembl Gene ENSMUSG00000028467
Gene Nameglucosidase beta 2
Synonymsbile acid
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02126
Quality Score
Status
Chromosome4
Chromosomal Location43566928-43578873 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to G at 43567918 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000102944] [ENSMUST00000130443] [ENSMUST00000132631] [ENSMUST00000167751]
Predicted Effect probably null
Transcript: ENSMUST00000030189
SMART Domains Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467

DomainStartEndE-ValueType
Pfam:GBA2_N 142 446 9.4e-106 PFAM
Pfam:DUF608 512 879 1.3e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102944
SMART Domains Protein: ENSMUSP00000100008
Gene: ENSMUSG00000028466

DomainStartEndE-ValueType
low complexity region 54 83 N/A INTRINSIC
low complexity region 132 147 N/A INTRINSIC
BRLZ 158 222 2.03e-15 SMART
low complexity region 240 253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128403
Predicted Effect probably benign
Transcript: ENSMUST00000130443
SMART Domains Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467

DomainStartEndE-ValueType
Pfam:GBA2_N 142 180 5.6e-13 PFAM
Pfam:GBA2_N 178 227 1.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159923
Predicted Effect probably benign
Transcript: ENSMUST00000167751
SMART Domains Protein: ENSMUSP00000129401
Gene: ENSMUSG00000028466

DomainStartEndE-ValueType
low complexity region 54 83 N/A INTRINSIC
low complexity region 156 171 N/A INTRINSIC
BRLZ 182 246 2.03e-15 SMART
low complexity region 264 277 N/A INTRINSIC
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 microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accumulation of glucosylceramides in multiple tissues, and show impaired male fertility associated with globozoospermia, oligozoospermia, reduced sperm motility, and male germ cell apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,139,856 V365M probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Angptl3 T C 4: 99,031,501 probably null Het
Atoh1 T C 6: 64,729,350 W10R probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Ccm2 A G 11: 6,594,154 T317A probably damaging Het
Ccnt1 A T 15: 98,567,603 W12R probably damaging Het
Celf1 T A 2: 91,001,063 L79H probably damaging Het
Cmip T C 8: 117,449,031 V423A probably damaging Het
Ddr1 T A 17: 35,688,589 I431F probably damaging Het
Dnah6 A G 6: 73,103,166 L2343P probably benign Het
Duox1 A G 2: 122,346,336 D1446G probably benign Het
Erich3 A G 3: 154,713,962 H231R possibly damaging Het
Fam221b T A 4: 43,666,450 I54F probably benign Het
Galntl5 T C 5: 25,189,841 F69L possibly damaging Het
Gbf1 C A 19: 46,252,117 P46Q probably damaging Het
Gimap6 T G 6: 48,702,701 S134R probably damaging Het
Gm5424 A C 10: 62,071,598 noncoding transcript Het
Gm5724 T A 6: 141,739,013 T239S probably benign Het
Hexb T C 13: 97,178,024 K404E possibly damaging Het
Hs3st3a1 G A 11: 64,436,505 V147M probably damaging Het
Hsd17b4 T C 18: 50,181,996 V610A probably benign Het
Loxl3 T A 6: 83,048,647 W329R probably damaging Het
Lrrc52 A G 1: 167,446,006 F247S probably damaging Het
Naa38 C T 11: 69,396,219 R42W probably damaging Het
Nadsyn1 G A 7: 143,804,016 Q485* probably null Het
Nid1 A G 13: 13,489,158 probably null Het
Ofcc1 T C 13: 40,208,775 T224A probably benign Het
Olfr1029 T G 2: 85,976,173 I310S probably benign Het
Palld A G 8: 61,877,442 Y134H possibly damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pfn3 T C 13: 55,414,886 D94G possibly damaging Het
Pkhd1 G A 1: 20,117,195 R3630C probably damaging Het
Por T A 5: 135,715,975 F31I probably benign Het
Ppp1r12c T C 7: 4,489,859 E127G probably benign Het
Ppp1r9a T A 6: 5,156,229 S1162T probably damaging Het
Psen2 C A 1: 180,229,923 A297S probably benign Het
Rpusd2 G A 2: 119,038,638 R514Q probably damaging Het
Rxrg A G 1: 167,634,460 M235V probably damaging Het
Sash1 T C 10: 8,739,465 M644V probably damaging Het
Sf3b3 T C 8: 110,823,443 T648A probably benign Het
Ssu72 T C 4: 155,732,026 I155T probably benign Het
Tas2r102 A G 6: 132,762,644 R172G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trav12-2 C A 14: 53,616,402 N2K probably damaging Het
Tyrp1 C T 4: 80,837,608 Q205* probably null Het
Ubr4 T A 4: 139,452,741 probably null Het
Ush2a A G 1: 188,263,391 S120G probably benign Het
Vmn2r100 T C 17: 19,521,242 probably benign Het
Zer1 G T 2: 30,104,916 T489K probably benign Het
Zfp955b G T 17: 33,302,264 G236* probably null Het
Other mutations in Gba2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Gba2 APN 4 43568477 missense probably damaging 1.00
IGL01577:Gba2 APN 4 43573753 nonsense probably null
IGL02066:Gba2 APN 4 43570175 missense probably benign 0.18
IGL02243:Gba2 APN 4 43568719 missense probably benign 0.13
IGL02474:Gba2 APN 4 43568538 missense possibly damaging 0.69
IGL02567:Gba2 APN 4 43567281 missense probably benign
IGL02628:Gba2 APN 4 43568919 missense probably benign 0.01
IGL02706:Gba2 APN 4 43567257 missense probably benign 0.01
IGL02795:Gba2 APN 4 43578331 missense probably damaging 1.00
R0389:Gba2 UTSW 4 43570832 missense probably damaging 1.00
R0555:Gba2 UTSW 4 43569927 missense probably damaging 1.00
R0650:Gba2 UTSW 4 43570424 unclassified probably null
R1603:Gba2 UTSW 4 43567823 missense probably damaging 1.00
R1628:Gba2 UTSW 4 43570118 missense probably benign 0.00
R1664:Gba2 UTSW 4 43578080 missense probably benign 0.01
R1686:Gba2 UTSW 4 43573869 splice site probably benign
R1730:Gba2 UTSW 4 43578242 missense probably benign 0.01
R2036:Gba2 UTSW 4 43568118 unclassified probably benign
R2061:Gba2 UTSW 4 43574029 nonsense probably null
R2259:Gba2 UTSW 4 43570107 missense probably benign
R2847:Gba2 UTSW 4 43568000 unclassified probably null
R3026:Gba2 UTSW 4 43578308 missense possibly damaging 0.95
R3617:Gba2 UTSW 4 43573803 missense probably damaging 1.00
R4225:Gba2 UTSW 4 43569464 unclassified probably benign
R4346:Gba2 UTSW 4 43571337 missense probably benign 0.04
R4601:Gba2 UTSW 4 43573810 missense probably damaging 1.00
R4611:Gba2 UTSW 4 43568092 missense probably damaging 1.00
R4664:Gba2 UTSW 4 43568619 unclassified probably benign
R4784:Gba2 UTSW 4 43568315 missense probably damaging 1.00
R4785:Gba2 UTSW 4 43568315 missense probably damaging 1.00
R5079:Gba2 UTSW 4 43568640 unclassified probably benign
R5327:Gba2 UTSW 4 43574063 missense probably damaging 1.00
R5746:Gba2 UTSW 4 43568465 unclassified probably null
R6052:Gba2 UTSW 4 43568330 missense probably damaging 1.00
R6485:Gba2 UTSW 4 43574118 missense probably damaging 1.00
R7073:Gba2 UTSW 4 43573753 missense probably damaging 1.00
R7112:Gba2 UTSW 4 43568453 missense probably benign 0.01
R7472:Gba2 UTSW 4 43568967 missense probably benign 0.44
RF007:Gba2 UTSW 4 43569894 missense probably damaging 1.00
Posted On2015-04-16