Incidental Mutation 'IGL01534:Rabggtb'
| ID |
89907 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rabggtb
|
| Ensembl Gene |
ENSMUSG00000038975 |
| Gene Name |
Rab geranylgeranyl transferase, b subunit |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
IGL01534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
153612926-153618603 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 153615896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000089950]
[ENSMUST00000167111]
[ENSMUST00000196266]
[ENSMUST00000196956]
[ENSMUST00000200631]
[ENSMUST00000196565]
[ENSMUST00000197438]
[ENSMUST00000200209]
|
| AlphaFold |
P53612 |
| PDB Structure |
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS3 [X-RAY DIFFRACTION]
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS3 and lipid substrate GGPP [X-RAY DIFFRACTION]
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS-analogue 14 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005630
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
107 |
N/A |
INTRINSIC |
|
Pfam:MutS_II
|
177 |
321 |
2.3e-20 |
PFAM |
|
MUTSd
|
352 |
679 |
3.77e-37 |
SMART |
|
MUTSac
|
695 |
888 |
1.6e-81 |
SMART |
|
Blast:MUTSac
|
912 |
956 |
1e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083804
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089950
|
| SMART Domains |
Protein: ENSMUSP00000087396
Gene: ENSMUSG00000038975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltrans
|
66 |
109 |
3e-11 |
PFAM |
|
Pfam:Prenyltrans_2
|
72 |
183 |
1.1e-19 |
PFAM |
|
Pfam:Prenyltrans
|
114 |
157 |
2.2e-14 |
PFAM |
|
Pfam:Prenyltrans_1
|
116 |
214 |
1.7e-9 |
PFAM |
|
Pfam:Prenyltrans
|
162 |
205 |
8.1e-18 |
PFAM |
|
Pfam:Prenyltrans
|
210 |
253 |
3.1e-15 |
PFAM |
|
Pfam:Prenyltrans
|
258 |
302 |
3.3e-15 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167111
|
| SMART Domains |
Protein: ENSMUSP00000129481
Gene: ENSMUSG00000038975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltrans
|
74 |
117 |
5.9e-12 |
PFAM |
|
Pfam:Prenyltrans
|
122 |
165 |
8.4e-15 |
PFAM |
|
Pfam:Prenyltrans
|
170 |
213 |
2.2e-18 |
PFAM |
|
Pfam:Prenyltrans
|
218 |
261 |
1.2e-15 |
PFAM |
|
Pfam:Prenyltrans
|
266 |
310 |
2.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196266
|
| SMART Domains |
Protein: ENSMUSP00000142682
Gene: ENSMUSG00000038975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltrans_2
|
32 |
143 |
9e-10 |
PFAM |
|
Pfam:Prenyltrans
|
74 |
117 |
8.4e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196956
|
| SMART Domains |
Protein: ENSMUSP00000143458
Gene: ENSMUSG00000038975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltrans
|
74 |
117 |
2e-9 |
PFAM |
|
Pfam:Prenyltrans_2
|
80 |
191 |
3.8e-18 |
PFAM |
|
Pfam:Prenyltrans
|
122 |
165 |
1.4e-12 |
PFAM |
|
Pfam:Prenyltrans_1
|
124 |
202 |
4.8e-7 |
PFAM |
|
Pfam:Prenyltrans
|
170 |
201 |
9.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200631
|
| SMART Domains |
Protein: ENSMUSP00000142999
Gene: ENSMUSG00000038975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltrans
|
74 |
112 |
5.3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196565
|
| SMART Domains |
Protein: ENSMUSP00000143258
Gene: ENSMUSG00000038975
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197438
|
| SMART Domains |
Protein: ENSMUSP00000143551
Gene: ENSMUSG00000038975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltrans
|
74 |
112 |
1.8e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198350
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200209
|
| SMART Domains |
Protein: ENSMUSP00000143452
Gene: ENSMUSG00000038975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltrans_2
|
32 |
143 |
9e-10 |
PFAM |
|
Pfam:Prenyltrans
|
74 |
117 |
8.4e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197147
|
| 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 the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,146 (GRCm39) |
L111P |
possibly damaging |
Het |
| Adck5 |
C |
A |
15: 76,478,926 (GRCm39) |
H383Q |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,147,830 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
A |
6: 7,675,397 (GRCm39) |
H535L |
probably benign |
Het |
| Atf5 |
A |
G |
7: 44,462,462 (GRCm39) |
S221P |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,747,599 (GRCm39) |
Y294H |
probably damaging |
Het |
| B230307C23Rik |
A |
G |
16: 97,809,961 (GRCm39) |
|
probably benign |
Het |
| C1qtnf6 |
C |
T |
15: 78,409,416 (GRCm39) |
E144K |
probably benign |
Het |
| Casp8ap2 |
C |
T |
4: 32,648,134 (GRCm39) |
|
probably benign |
Het |
| Cd48 |
C |
A |
1: 171,523,307 (GRCm39) |
P50Q |
possibly damaging |
Het |
| Cnnm4 |
T |
C |
1: 36,538,596 (GRCm39) |
Y593H |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,144,019 (GRCm39) |
R569Q |
probably benign |
Het |
| Cubn |
A |
T |
2: 13,470,744 (GRCm39) |
C549* |
probably null |
Het |
| Dsg1a |
T |
A |
18: 20,474,053 (GRCm39) |
M1042K |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,114,651 (GRCm39) |
T835S |
probably damaging |
Het |
| Eif3c |
T |
C |
7: 126,156,867 (GRCm39) |
T389A |
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,521,985 (GRCm39) |
E177* |
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,026,772 (GRCm39) |
S91T |
possibly damaging |
Het |
| Grik3 |
T |
C |
4: 125,579,983 (GRCm39) |
V576A |
probably damaging |
Het |
| Gtpbp2 |
T |
A |
17: 46,474,430 (GRCm39) |
Y70N |
probably damaging |
Het |
| Idh3a |
T |
A |
9: 54,508,506 (GRCm39) |
|
probably benign |
Het |
| Ift74 |
G |
A |
4: 94,568,181 (GRCm39) |
R406H |
probably benign |
Het |
| Kcna7 |
C |
A |
7: 45,055,935 (GRCm39) |
N50K |
probably damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,726,144 (GRCm39) |
S546P |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,303,986 (GRCm39) |
D134N |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,864,700 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
T |
C |
7: 3,288,463 (GRCm39) |
Y683C |
probably benign |
Het |
| Or14j3 |
A |
T |
17: 37,900,963 (GRCm39) |
Y94N |
possibly damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,546 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8i2 |
A |
G |
2: 86,852,228 (GRCm39) |
I220T |
probably damaging |
Het |
| Or9i1 |
A |
T |
19: 13,839,283 (GRCm39) |
N42I |
probably damaging |
Het |
| Or9i14 |
T |
A |
19: 13,792,666 (GRCm39) |
H96L |
probably benign |
Het |
| P2rx7 |
A |
C |
5: 122,814,761 (GRCm39) |
I409L |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
| Rgs4 |
A |
T |
1: 169,572,085 (GRCm39) |
C71* |
probably null |
Het |
| Rnase10 |
T |
C |
14: 51,245,436 (GRCm39) |
F5L |
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,609,888 (GRCm39) |
T987S |
probably benign |
Het |
| Shox2 |
A |
C |
3: 66,885,696 (GRCm39) |
D126E |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,059,830 (GRCm39) |
D910G |
probably damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,702,364 (GRCm39) |
C594Y |
possibly damaging |
Het |
| Spock2 |
C |
T |
10: 59,962,883 (GRCm39) |
|
probably benign |
Het |
| Togaram1 |
G |
T |
12: 65,013,321 (GRCm39) |
D191Y |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,640,660 (GRCm39) |
V172A |
probably benign |
Het |
| Tubb3 |
C |
T |
8: 124,147,705 (GRCm39) |
R213C |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,844 (GRCm39) |
V379E |
probably damaging |
Het |
| Zfp446 |
C |
T |
7: 12,713,493 (GRCm39) |
P153L |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,032,004 (GRCm39) |
N645K |
probably damaging |
Het |
|
| Other mutations in Rabggtb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01939:Rabggtb
|
APN |
3 |
153,617,650 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0088:Rabggtb
|
UTSW |
3 |
153,614,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Rabggtb
|
UTSW |
3 |
153,615,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Rabggtb
|
UTSW |
3 |
153,616,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Rabggtb
|
UTSW |
3 |
153,617,568 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5220:Rabggtb
|
UTSW |
3 |
153,615,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Rabggtb
|
UTSW |
3 |
153,615,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7996:Rabggtb
|
UTSW |
3 |
153,617,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Rabggtb
|
UTSW |
3 |
153,613,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rabggtb
|
UTSW |
3 |
153,613,322 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation