Incidental Mutation 'R6474:Gba1'
| ID |
516723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gba1
|
| Ensembl Gene |
ENSMUSG00000028048 |
| Gene Name |
glucosylceramidase beta 1 |
| Synonyms |
Gba, betaGC, GC, GBA1, glucocerebrosidase, GCase |
| MMRRC Submission |
044607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.814)
|
| Stock # |
R6474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89110235-89116273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89111388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 51
(P51L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073572]
[ENSMUST00000077367]
[ENSMUST00000167998]
[ENSMUST00000197738]
|
| AlphaFold |
P17439 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073572
|
| SMART Domains |
Protein: ENSMUSP00000073261
Gene: ENSMUSG00000064068
| Domain | Start | End | E-Value | Type |
|---|
|
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: P51L
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048
AA Change: P51L
| Domain | Start | End | E-Value | Type |
|---|
|
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: P51L
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048
AA Change: P51L
| Domain | Start | End | E-Value | Type |
|---|
|
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: P51L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048
AA Change: P51L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_30
|
20 |
388 |
1e-186 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200124
|
| Meta Mutation Damage Score |
0.2049 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,359 (GRCm39) |
N90Y |
probably damaging |
Het |
| Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
| Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
| Clrn2 |
T |
A |
5: 45,621,074 (GRCm39) |
M156K |
probably benign |
Het |
| Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
| Ecsit |
A |
G |
9: 21,985,981 (GRCm39) |
V145A |
possibly damaging |
Het |
| Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
| Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
| Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
| Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
| Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,059,942 (GRCm39) |
D623E |
possibly damaging |
Het |
| Ppm1l |
T |
A |
3: 69,460,374 (GRCm39) |
I317N |
probably damaging |
Het |
| Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
| Sprtn |
G |
T |
8: 125,625,873 (GRCm39) |
E95* |
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
| Tubal3 |
T |
A |
13: 3,983,107 (GRCm39) |
S296T |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,647 (GRCm39) |
D157G |
possibly damaging |
Het |
|
| Other mutations in Gba1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- CTGTCTCGTACCTAGCATGC -3'
(R):5'- AACTTCTTTTCTGGCTGCAAAGTG -3'
Sequencing Primer
(F):5'- GTACCTAGCATGCCCACTC -3'
(R):5'- TTCTGGCTGCAAAGTGAGTAGTAAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation