Incidental Mutation 'IGL02832:Gba1'
ID 361466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gba1
Ensembl Gene ENSMUSG00000028048
Gene Name glucosylceramidase beta 1
Synonyms Gba, betaGC, GC, GBA1, glucocerebrosidase, GCase
Accession Numbers
Essential gene? Probably essential (E-score: 0.814) question?
Stock # IGL02832
Quality Score
Status
Chromosome 3
Chromosomal Location 89110235-89116273 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89110809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 6 (I6L)
Ref Sequence ENSEMBL: ENSMUSP00000142401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077367] [ENSMUST00000167998] [ENSMUST00000197738]
AlphaFold P17439
Predicted Effect probably benign
Transcript: ENSMUST00000077367
AA Change: I6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048
AA Change: I6L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_30 20 512 1.4e-252 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167998
AA Change: I6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048
AA Change: I6L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_30 20 512 1.4e-252 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196887
Predicted Effect probably benign
Transcript: ENSMUST00000197738
AA Change: I6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048
AA Change: I6L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_30 20 388 1e-186 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200124
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 lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mutations in this locus variably lower enzyme activity and result in accumulated glucocerebroside in reticuloendotehelial cell lysosomes and glucosylceramide in brain, liver and skin. Severe mutants die perinatally with compromised epidermal permeability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 G A 6: 92,784,156 (GRCm39) T985M probably damaging Het
Alpk1 A G 3: 127,473,592 (GRCm39) S804P possibly damaging Het
Ap3b1 A G 13: 94,664,835 (GRCm39) I925V unknown Het
Cep135 T A 5: 76,788,796 (GRCm39) S1130T probably damaging Het
Cers3 A T 7: 66,431,573 (GRCm39) M183L probably benign Het
Col5a1 A G 2: 27,842,352 (GRCm39) E409G unknown Het
Cyp4a32 G T 4: 115,471,818 (GRCm39) V410F probably damaging Het
Ddx1 G A 12: 13,277,318 (GRCm39) Q528* probably null Het
Dio2 G A 12: 90,696,178 (GRCm39) probably benign Het
Dnah9 G T 11: 65,931,172 (GRCm39) A2008E probably damaging Het
Dnajc2 A G 5: 21,965,408 (GRCm39) V457A probably benign Het
Dytn T C 1: 63,682,532 (GRCm39) T372A probably benign Het
Fam135a T C 1: 24,067,714 (GRCm39) I152V probably benign Het
Fmnl2 C T 2: 52,748,261 (GRCm39) A36V possibly damaging Het
Galnt7 G A 8: 58,005,531 (GRCm39) T234I probably damaging Het
Gja10 A G 4: 32,602,147 (GRCm39) V79A probably damaging Het
Gpd2 T A 2: 57,228,991 (GRCm39) V265E probably damaging Het
Gpld1 T C 13: 25,136,861 (GRCm39) Y60H probably damaging Het
H2bc27 A G 11: 58,839,869 (GRCm39) K35R probably benign Het
Heatr9 A G 11: 83,409,672 (GRCm39) probably benign Het
Krt75 T A 15: 101,476,508 (GRCm39) D419V probably benign Het
Lrig3 A T 10: 125,842,871 (GRCm39) I599F probably benign Het
Lrp4 A G 2: 91,341,925 (GRCm39) D1846G probably damaging Het
Mamdc2 C T 19: 23,281,215 (GRCm39) A653T probably damaging Het
Myo7a A T 7: 97,740,227 (GRCm39) probably null Het
Notch2 A G 3: 98,044,689 (GRCm39) D1537G probably benign Het
Or10k2 G A 8: 84,268,100 (GRCm39) C109Y probably damaging Het
Or51a25 G T 7: 102,372,858 (GRCm39) H280N probably benign Het
Or52ae7 A T 7: 103,119,905 (GRCm39) I220L probably benign Het
Papss1 A C 3: 131,288,280 (GRCm39) D84A probably damaging Het
Pcdhb16 T A 18: 37,611,527 (GRCm39) D162E probably damaging Het
Rab11fip1 C T 8: 27,642,840 (GRCm39) R653Q possibly damaging Het
Rap1gap2 A T 11: 74,303,281 (GRCm39) probably benign Het
Rasal2 T C 1: 156,984,777 (GRCm39) D990G probably damaging Het
Rnf32 T C 5: 29,410,701 (GRCm39) probably null Het
Rp1 T C 1: 4,419,936 (GRCm39) D392G probably benign Het
Scn9a T C 2: 66,398,373 (GRCm39) D79G probably damaging Het
Selenon A T 4: 134,268,219 (GRCm39) V438D probably damaging Het
Slc47a1 G A 11: 61,254,239 (GRCm39) H158Y probably benign Het
Slc5a12 A T 2: 110,471,160 (GRCm39) E463D probably benign Het
Taf2 C T 15: 54,879,959 (GRCm39) V1126M probably benign Het
Tas2r143 G T 6: 42,377,259 (GRCm39) V30L possibly damaging Het
Tcea3 G A 4: 135,995,424 (GRCm39) V256M probably damaging Het
Thy1 A G 9: 43,958,111 (GRCm39) T80A probably benign Het
Tmem9 A G 1: 135,947,469 (GRCm39) N47S probably damaging Het
Tmprss11g T C 5: 86,645,128 (GRCm39) Q101R probably benign Het
Trim66 C T 7: 109,059,704 (GRCm39) C792Y probably damaging Het
Tstd2 A T 4: 46,124,949 (GRCm39) M226K probably damaging Het
Utrn G T 10: 12,613,937 (GRCm39) T378K possibly damaging Het
Vmn2r23 A G 6: 123,681,355 (GRCm39) I88V probably benign Het
Other mutations in Gba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Gba1 APN 3 89,113,148 (GRCm39) missense probably damaging 1.00
IGL02661:Gba1 APN 3 89,110,834 (GRCm39) missense probably benign 0.02
R0308:Gba1 UTSW 3 89,115,671 (GRCm39) missense probably benign 0.00
R0811:Gba1 UTSW 3 89,111,307 (GRCm39) missense probably benign 0.01
R0812:Gba1 UTSW 3 89,111,307 (GRCm39) missense probably benign 0.01
R1517:Gba1 UTSW 3 89,113,455 (GRCm39) missense probably damaging 1.00
R2119:Gba1 UTSW 3 89,112,868 (GRCm39) missense probably benign 0.11
R4613:Gba1 UTSW 3 89,115,951 (GRCm39) splice site probably null
R5371:Gba1 UTSW 3 89,112,778 (GRCm39) missense probably benign 0.37
R5987:Gba1 UTSW 3 89,113,129 (GRCm39) missense probably damaging 0.98
R6469:Gba1 UTSW 3 89,111,388 (GRCm39) missense probably benign 0.12
R6470:Gba1 UTSW 3 89,111,388 (GRCm39) missense probably benign 0.12
R6473:Gba1 UTSW 3 89,111,388 (GRCm39) missense probably benign 0.12
R6474:Gba1 UTSW 3 89,111,388 (GRCm39) missense probably benign 0.12
R6475:Gba1 UTSW 3 89,113,235 (GRCm39) missense probably benign 0.00
R6483:Gba1 UTSW 3 89,115,910 (GRCm39) missense probably damaging 1.00
R7190:Gba1 UTSW 3 89,111,669 (GRCm39) missense probably damaging 1.00
R8745:Gba1 UTSW 3 89,115,180 (GRCm39) missense probably damaging 1.00
R9533:Gba1 UTSW 3 89,114,756 (GRCm39) missense probably benign 0.03
R9708:Gba1 UTSW 3 89,112,801 (GRCm39) missense probably damaging 1.00
Z1176:Gba1 UTSW 3 89,111,312 (GRCm39) nonsense probably null
Posted On 2015-12-18