Incidental Mutation 'R5371:Gba1'
ID 428704
Institutional Source Beutler Lab
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 # R5371 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89110235-89116273 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89112778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 140 (V140E)
Ref Sequence ENSEMBL: ENSMUSP00000142401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073572] [ENSMUST00000077367] [ENSMUST00000118964] [ENSMUST00000167998] [ENSMUST00000174126] [ENSMUST00000152789] [ENSMUST00000197738]
AlphaFold P17439
Predicted Effect probably benign
Transcript: ENSMUST00000073572
SMART Domains Protein: ENSMUSP00000073261
Gene: ENSMUSG00000064068

DomainStartEndE-ValueType
low complexity region 94 109 N/A INTRINSIC
Pfam:Tom37 151 219 4.2e-21 PFAM
Pfam:Tom37_C 239 317 8.1e-24 PFAM
Pfam:GST_C_3 267 383 1.7e-11 PFAM
Pfam:GST_C_2 270 377 2.7e-8 PFAM
Pfam:Tom37_C 300 369 1.1e-14 PFAM
low complexity region 396 415 N/A INTRINSIC
transmembrane domain 416 438 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077367
AA Change: V140E

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048
AA Change: V140E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_30 20 512 1.4e-252 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118964
SMART Domains Protein: ENSMUSP00000114009
Gene: ENSMUSG00000064068

DomainStartEndE-ValueType
low complexity region 94 109 N/A INTRINSIC
Pfam:Tom37 151 219 5.9e-21 PFAM
Pfam:Tom37_C 216 287 6.3e-19 PFAM
Pfam:GST_C_3 216 352 5.1e-11 PFAM
Pfam:GST_C_2 238 344 1.9e-8 PFAM
Pfam:Tom37_C 269 338 9.5e-15 PFAM
low complexity region 365 384 N/A INTRINSIC
transmembrane domain 385 407 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119222
SMART Domains Protein: ENSMUSP00000113986
Gene: ENSMUSG00000064068

DomainStartEndE-ValueType
Pfam:Tom37 12 57 1.6e-11 PFAM
Pfam:Tom37_C 138 216 5.4e-24 PFAM
Pfam:GST_C_3 166 282 1.1e-11 PFAM
Pfam:GST_C_2 169 276 1.8e-8 PFAM
Pfam:Tom37_C 199 268 7.2e-15 PFAM
low complexity region 295 314 N/A INTRINSIC
transmembrane domain 315 337 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124086
Predicted Effect probably benign
Transcript: ENSMUST00000129055
Predicted Effect probably benign
Transcript: ENSMUST00000167998
AA Change: V140E

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048
AA Change: V140E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_30 20 512 1.4e-252 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138633
Predicted Effect probably benign
Transcript: ENSMUST00000173477
SMART Domains Protein: ENSMUSP00000133282
Gene: ENSMUSG00000064068

DomainStartEndE-ValueType
Pfam:Tom37 1 58 8.5e-16 PFAM
Pfam:Tom37_C 77 155 9.7e-24 PFAM
Pfam:GST_C_3 104 221 8.2e-12 PFAM
Pfam:GST_C_2 107 216 7.5e-9 PFAM
Pfam:Tom37_C 138 207 1.3e-14 PFAM
low complexity region 234 253 N/A INTRINSIC
transmembrane domain 254 276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174126
SMART Domains Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068

DomainStartEndE-ValueType
Pfam:Tom37_C 1 74 7.6e-23 PFAM
Pfam:GST_C_3 7 143 7.3e-12 PFAM
Pfam:GST_C_2 26 137 2.8e-9 PFAM
Pfam:Tom37_C 61 129 6.2e-15 PFAM
low complexity region 159 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173465
Predicted Effect probably benign
Transcript: ENSMUST00000152789
Predicted Effect probably benign
Transcript: ENSMUST00000173475
SMART Domains Protein: ENSMUSP00000134110
Gene: ENSMUSG00000064068

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
low complexity region 97 116 N/A INTRINSIC
transmembrane domain 117 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173593
SMART Domains Protein: ENSMUSP00000133866
Gene: ENSMUSG00000064068

DomainStartEndE-ValueType
Pfam:Tom37 14 82 1.1e-21 PFAM
Pfam:Tom37_C 102 178 3.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197738
AA Change: V140E

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048
AA Change: V140E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_30 20 388 1e-186 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199915
Meta Mutation Damage Score 0.7790 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 96% (71/74)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,261,918 (GRCm39) noncoding transcript Het
Arpp21 G A 9: 111,895,000 (GRCm39) P755S probably benign Het
Aspm C T 1: 139,398,279 (GRCm39) Q982* probably null Het
Atp5f1e C T 2: 174,304,319 (GRCm39) probably benign Het
BC024139 A G 15: 76,004,886 (GRCm39) *598Q probably null Het
Bcl6 T A 16: 23,788,736 (GRCm39) D544V possibly damaging Het
Ccdc9 A T 7: 16,014,655 (GRCm39) D195E probably damaging Het
Cd38 A G 5: 44,026,225 (GRCm39) N3S probably benign Het
Cfap46 A T 7: 139,212,097 (GRCm39) probably null Het
Cmtr2 T C 8: 110,948,044 (GRCm39) F118S probably damaging Het
Cyp7a1 A G 4: 6,268,378 (GRCm39) F449S probably damaging Het
Dnah10 C T 5: 124,820,693 (GRCm39) A509V probably benign Het
Dsp A T 13: 38,378,865 (GRCm39) Q1271L probably damaging Het
Edar A C 10: 58,443,274 (GRCm39) V284G possibly damaging Het
Fdft1 A G 14: 63,388,750 (GRCm39) V294A probably damaging Het
Gm12185 A T 11: 48,806,566 (GRCm39) S208R probably benign Het
Gm21028 C A 7: 42,227,946 (GRCm39) E23* probably null Het
Gm6871 A G 7: 41,222,992 (GRCm39) L32P probably benign Het
Hhip C T 8: 80,724,220 (GRCm39) V341M probably damaging Het
Kcnq2 C A 2: 180,776,813 (GRCm39) V25L probably damaging Het
Krit1 C A 5: 3,881,551 (GRCm39) H548N probably damaging Het
Kynu C T 2: 43,479,406 (GRCm39) A100V probably benign Het
Lpp T C 16: 24,708,554 (GRCm39) C295R probably damaging Het
Mdp1 A G 14: 55,897,806 (GRCm39) V9A probably damaging Het
Mllt3 T C 4: 87,759,093 (GRCm39) I318M possibly damaging Het
Mpzl3 A G 9: 44,966,510 (GRCm39) probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mup8 A G 4: 60,222,423 (GRCm39) V16A probably benign Het
Myh13 T A 11: 67,235,616 (GRCm39) probably null Het
Myh4 A T 11: 67,150,150 (GRCm39) Q1869L probably damaging Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Olfr908 CACAACAACA CACAACA 9: 38,427,434 (GRCm39) probably benign Het
Or13c7b A T 4: 43,821,058 (GRCm39) M101K probably damaging Het
Or51h7 T A 7: 102,591,719 (GRCm39) M22L probably benign Het
Or5d43 C A 2: 88,104,976 (GRCm39) C139F probably damaging Het
Parp11 T C 6: 127,447,755 (GRCm39) F30L probably damaging Het
Pcdhgc3 A T 18: 37,941,507 (GRCm39) D636V possibly damaging Het
Ppp1cb T C 5: 32,643,332 (GRCm39) F234L probably damaging Het
Rras2 A T 7: 113,649,572 (GRCm39) V164E probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGACGGCGGCG 7: 97,229,120 (GRCm39) probably benign Het
Scg3 T C 9: 75,568,583 (GRCm39) T390A probably damaging Het
Shh C A 5: 28,671,688 (GRCm39) C25F probably damaging Het
Slc24a1 T C 9: 64,856,550 (GRCm39) K119R unknown Het
Speg G T 1: 75,408,037 (GRCm39) R3244L possibly damaging Het
Spns1 A G 7: 125,972,936 (GRCm39) probably benign Het
Sptbn4 A C 7: 27,059,166 (GRCm39) probably null Het
Stap1 T A 5: 86,244,375 (GRCm39) F214Y possibly damaging Het
Tcerg1 T A 18: 42,652,600 (GRCm39) M76K unknown Het
Tjp1 A T 7: 64,963,059 (GRCm39) Y959* probably null Het
Tmprss11e A T 5: 86,875,225 (GRCm39) C14S probably benign Het
Tnfrsf14 T C 4: 155,006,934 (GRCm39) probably null Het
Tsfm A C 10: 126,847,512 (GRCm39) V193G probably benign Het
Ube2q2l T A 6: 136,378,371 (GRCm39) Y153F probably benign Het
Ush2a A T 1: 188,175,267 (GRCm39) I1122L probably benign Het
Vmn1r74 T A 7: 11,580,984 (GRCm39) S95T probably damaging Het
Vmn2r98 G A 17: 19,290,015 (GRCm39) C517Y probably damaging Het
Vstm2b G A 7: 40,550,702 (GRCm39) S99N possibly damaging Het
Zbtb24 A G 10: 41,327,537 (GRCm39) N141S probably benign Het
Zcchc4 T G 5: 52,942,512 (GRCm39) C106G 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGAATGAGGGCCTATTGAGG -3'
(R):5'- ACAGCTCTAACCTGGACCTTC -3'

Sequencing Primer
(F):5'- ATCTTATTTTGAGACAGGGTCTTGCC -3'
(R):5'- TTCCCAGCCCCAAGACGG -3'
Posted On 2016-09-06