Incidental Mutation 'R7190:Gba1'
ID 559529
Institutional Source Beutler Lab
Gene Symbol Gba1
Ensembl Gene ENSMUSG00000028048
Gene Name glucosylceramidase beta 1
Synonyms Gba, betaGC, GC, GBA1, glucocerebrosidase, GCase
MMRRC Submission 045273-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.814) question?
Stock # R7190 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 89110235-89116273 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89111669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 112 (I112N)
Ref Sequence ENSEMBL: ENSMUSP00000076589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073572] [ENSMUST00000077367] [ENSMUST00000118964] [ENSMUST00000167998] [ENSMUST00000174126] [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 damaging
Transcript: ENSMUST00000077367
AA Change: I112N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048
AA Change: I112N

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 probably benign
Transcript: ENSMUST00000129055
Predicted Effect probably damaging
Transcript: ENSMUST00000167998
AA Change: I112N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048
AA Change: I112N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_30 20 512 1.4e-252 PFAM
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: 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: 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: 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 damaging
Transcript: ENSMUST00000197738
AA Change: I112N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048
AA Change: I112N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_30 20 388 1e-186 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Add3 C T 19: 53,205,330 (GRCm39) R27* probably null Het
Armc3 T A 2: 19,297,947 (GRCm39) Y573N probably damaging Het
Bod1l A C 5: 41,977,281 (GRCm39) N1344K probably benign Het
Camta1 T G 4: 151,232,980 (GRCm39) N231T possibly damaging Het
Capza2 T A 6: 17,654,120 (GRCm39) Y57* probably null Het
Ccdc168 A C 1: 44,100,775 (GRCm39) S108A probably benign Het
Ccdc186 T A 19: 56,780,432 (GRCm39) I871F probably damaging Het
Cntnap5b A G 1: 100,359,574 (GRCm39) probably null Het
Dnah2 G T 11: 69,439,923 (GRCm39) probably null Het
Fhod3 T C 18: 25,223,812 (GRCm39) F1053L probably damaging Het
Foxj1 A G 11: 116,223,201 (GRCm39) Y201H possibly damaging Het
Gatad2b T A 3: 90,257,722 (GRCm39) I210N probably benign Het
Gbp2 T C 3: 142,339,208 (GRCm39) V420A probably benign Het
Golga3 T A 5: 110,357,721 (GRCm39) H1072Q probably damaging Het
Gpr150 C T 13: 76,203,992 (GRCm39) A318T probably benign Het
Gpr6 T C 10: 40,946,956 (GRCm39) N209D probably damaging Het
Grin2b T C 6: 135,709,946 (GRCm39) N1200S possibly damaging Het
Ifi207 G A 1: 173,557,818 (GRCm39) H307Y unknown Het
Il20ra A T 10: 19,618,689 (GRCm39) I46F probably damaging Het
Lvrn A G 18: 47,033,570 (GRCm39) D927G probably benign Het
Nlrc4 G T 17: 74,752,198 (GRCm39) D728E probably damaging Het
Nup107 T C 10: 117,598,040 (GRCm39) D630G probably benign Het
Or1e19 A T 11: 73,315,990 (GRCm39) I273N probably benign Het
Or6c5c T C 10: 129,298,626 (GRCm39) I27T probably benign Het
Pclo C A 5: 14,729,743 (GRCm39) A2867D unknown Het
Perm1 A G 4: 156,304,272 (GRCm39) T754A possibly damaging Het
Plpbp G T 8: 27,541,325 (GRCm39) V162L probably benign Het
Plscr4 A T 9: 92,370,694 (GRCm39) E220D probably benign Het
Ppp2r3d A T 9: 101,089,726 (GRCm39) M199K probably benign Het
Pramel38 T G 5: 94,366,096 (GRCm39) N71K probably benign Het
Rassf6 T C 5: 90,754,666 (GRCm39) E204G probably damaging Het
Reln A C 5: 22,252,945 (GRCm39) D667E probably damaging Het
Rere A G 4: 150,695,410 (GRCm39) I462V unknown Het
Rpain A G 11: 70,862,735 (GRCm39) E76G possibly damaging Het
Strc T G 2: 121,199,507 (GRCm39) I1311L probably benign Het
Svil A G 18: 5,092,937 (GRCm39) M1385V probably benign Het
Syne2 T A 12: 76,113,361 (GRCm39) D1083E probably benign Het
Szt2 T A 4: 118,246,203 (GRCm39) H986L probably damaging Het
Tcl1b2 G T 12: 105,113,493 (GRCm39) probably null Het
Thy1 T A 9: 43,958,222 (GRCm39) S117T possibly damaging Het
Tmem183a A T 1: 134,282,496 (GRCm39) I203N probably damaging Het
Tmprss11g T C 5: 86,644,491 (GRCm39) I118V probably benign Het
Tsen34 T C 7: 3,697,806 (GRCm39) V69A possibly damaging Het
Ttn T C 2: 76,717,143 (GRCm39) Q7506R unknown Het
Vmn1r184 T C 7: 25,967,105 (GRCm39) S284P probably damaging Het
Wdr19 A G 5: 65,398,205 (GRCm39) D810G probably benign Het
Zer1 T C 2: 29,993,444 (GRCm39) D554G probably damaging Het
Zfp626 A T 7: 27,517,768 (GRCm39) T250S 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
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
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'- GCACAGGTAGCCACTTTATCTGTC -3'
(R):5'- CCCGAAAATTGTCCTCTGACC -3'

Sequencing Primer
(F):5'- GTCCCTCTAAGCCTGGACC -3'
(R):5'- GAAAATTGTCCTCTGACCTCCCC -3'
Posted On 2019-06-26