Incidental Mutation 'IGL02661:Gba1'
ID 302538
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 # IGL02661
Quality Score
Status
Chromosome 3
Chromosomal Location 89110235-89116273 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89110834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 14 (V14E)
Ref Sequence ENSEMBL: ENSMUSP00000130660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077367] [ENSMUST00000167998] [ENSMUST00000197738]
AlphaFold P17439
Predicted Effect probably benign
Transcript: ENSMUST00000077367
AA Change: V14E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048
AA Change: V14E

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: V14E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048
AA Change: V14E

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: V14E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048
AA Change: V14E

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik G T 18: 52,793,566 (GRCm39) W33L probably damaging Het
Adam34 A T 8: 44,104,572 (GRCm39) C358S probably damaging Het
Ak5 C A 3: 152,169,593 (GRCm39) V561F probably benign Het
Ap1s1 T C 5: 137,066,327 (GRCm39) D158G probably benign Het
Bard1 A G 1: 71,114,469 (GRCm39) S171P probably damaging Het
Bsn A C 9: 107,984,135 (GRCm39) Y534* probably null Het
Clcn4 A T 7: 7,294,730 (GRCm39) probably null Het
Cyp2j7 T C 4: 96,124,887 (GRCm39) T4A probably benign Het
Dnajc10 T A 2: 80,157,084 (GRCm39) probably benign Het
Dtl G T 1: 191,273,483 (GRCm39) T475N probably benign Het
Eif3m T C 2: 104,835,314 (GRCm39) Y120C probably damaging Het
Gab1 A G 8: 81,515,566 (GRCm39) S251P probably damaging Het
Ggcx C T 6: 72,395,343 (GRCm39) P145S possibly damaging Het
Gm13889 G A 2: 93,787,024 (GRCm39) T150I probably benign Het
Gm4978 C A 9: 69,358,180 (GRCm39) probably benign Het
Herc2 A G 7: 55,762,821 (GRCm39) D850G probably damaging Het
Hspa1l A G 17: 35,196,251 (GRCm39) I97V probably benign Het
Ighv1-4 T G 12: 114,450,850 (GRCm39) K86T probably damaging Het
Ints4 C A 7: 97,144,912 (GRCm39) L175I probably benign Het
Kif13b T G 14: 65,005,140 (GRCm39) V1144G probably benign Het
Kpna3 T A 14: 61,610,398 (GRCm39) probably benign Het
Man2c1 A G 9: 57,044,766 (GRCm39) D371G probably damaging Het
Mtf1 T C 4: 124,718,902 (GRCm39) L305P probably damaging Het
Myo15b T G 11: 115,774,895 (GRCm39) V2139G probably benign Het
Nalcn T C 14: 123,830,321 (GRCm39) probably benign Het
Neurod2 T C 11: 98,218,405 (GRCm39) Q253R possibly damaging Het
Nfkbil1 C A 17: 35,439,647 (GRCm39) A289S probably benign Het
Or4k35 T A 2: 111,099,811 (GRCm39) R300S possibly damaging Het
Paxbp1 A T 16: 90,827,413 (GRCm39) I474K probably benign Het
Pde6c A T 19: 38,169,248 (GRCm39) I798F probably damaging Het
Pon3 T A 6: 5,256,205 (GRCm39) T8S probably benign Het
Prkdc A G 16: 15,587,689 (GRCm39) T2525A possibly damaging Het
Rnase10 T G 14: 51,247,273 (GRCm39) V180G probably damaging Het
Rreb1 T A 13: 38,114,778 (GRCm39) C712* probably null Het
Scamp2 T C 9: 57,494,697 (GRCm39) probably benign Het
Serpina3i A T 12: 104,231,515 (GRCm39) K51* probably null Het
Smyd4 C A 11: 75,281,767 (GRCm39) C413* probably null Het
Spata2 C T 2: 167,325,281 (GRCm39) V513M probably damaging Het
Sri T A 5: 8,113,252 (GRCm39) probably benign Het
Urah A T 7: 140,417,618 (GRCm39) K119M probably damaging Het
Wdr19 C T 5: 65,403,151 (GRCm39) T1005I probably benign Het
Other mutations in Gba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Gba1 APN 3 89,113,148 (GRCm39) missense probably damaging 1.00
IGL02832:Gba1 APN 3 89,110,809 (GRCm39) missense probably benign
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 2015-04-16