Incidental Mutation 'R6640:Rab33b'
| ID |
543513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab33b
|
| Ensembl Gene |
ENSMUSG00000027739 |
| Gene Name |
RAB33B, member RAS oncogene family |
| Synonyms |
|
| MMRRC Submission |
044761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R6640 (G1)
|
| Quality Score |
46.0072 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
51391387-51403649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51391900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 50
(T50A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054387]
[ENSMUST00000192172]
|
| AlphaFold |
O35963 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054387
AA Change: T50A
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000063054
Gene: ENSMUSG00000027739
AA Change: T50A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
RAB
|
34 |
202 |
1.94e-85 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192172
AA Change: T50A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142215
Gene: ENSMUSG00000027739
AA Change: T50A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
Pfam:Ras
|
35 |
65 |
7.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195715
|
| Meta Mutation Damage Score |
0.1414 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,530,248 (GRCm39) |
N936K |
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,337,015 (GRCm39) |
Y2318F |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,868 (GRCm39) |
T469A |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,605 (GRCm39) |
D581G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,412,959 (GRCm39) |
D382G |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,628 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,001,276 (GRCm39) |
W3973R |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,511,555 (GRCm39) |
S1518* |
probably null |
Het |
| Elovl5 |
C |
A |
9: 77,887,195 (GRCm39) |
Y195* |
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,684,822 (GRCm39) |
W309R |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gpx1 |
A |
G |
9: 108,217,295 (GRCm39) |
D133G |
probably damaging |
Het |
| Hoxd1 |
T |
A |
2: 74,593,606 (GRCm39) |
V54E |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,139,649 (GRCm39) |
V876A |
probably benign |
Het |
| Klri2 |
G |
C |
6: 129,709,158 (GRCm39) |
F231L |
probably benign |
Het |
| Mogat1 |
T |
G |
1: 78,500,411 (GRCm39) |
S158R |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or2ag13 |
T |
A |
7: 106,313,247 (GRCm39) |
I214F |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,520,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,911,167 (GRCm39) |
A673T |
possibly damaging |
Het |
| Pigm |
T |
C |
1: 172,205,254 (GRCm39) |
V330A |
probably damaging |
Het |
| Raver2 |
C |
T |
4: 100,988,500 (GRCm39) |
P371L |
probably damaging |
Het |
| Rpl15-ps6 |
G |
T |
15: 52,341,016 (GRCm39) |
|
noncoding transcript |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,705 (GRCm39) |
Y163N |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,871,970 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,401 (GRCm39) |
Y563F |
possibly damaging |
Het |
| Sp3 |
A |
G |
2: 72,801,458 (GRCm39) |
L185P |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,893,630 (GRCm39) |
D850G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
A |
10: 105,409,610 (GRCm39) |
M1L |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,955,946 (GRCm39) |
I1126K |
probably damaging |
Het |
| Ugt1a6b |
A |
C |
1: 88,035,516 (GRCm39) |
T285P |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,617,842 (GRCm39) |
T1181A |
possibly damaging |
Het |
|
| Other mutations in Rab33b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02756:Rab33b
|
APN |
3 |
51,391,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Rab33b
|
UTSW |
3 |
51,391,737 (GRCm39) |
start gained |
probably benign |
|
|
R0690:Rab33b
|
UTSW |
3 |
51,400,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1027:Rab33b
|
UTSW |
3 |
51,391,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Rab33b
|
UTSW |
3 |
51,401,069 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5259:Rab33b
|
UTSW |
3 |
51,392,033 (GRCm39) |
unclassified |
probably benign |
|
|
R5387:Rab33b
|
UTSW |
3 |
51,400,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Rab33b
|
UTSW |
3 |
51,400,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Rab33b
|
UTSW |
3 |
51,391,900 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6318:Rab33b
|
UTSW |
3 |
51,400,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8443:Rab33b
|
UTSW |
3 |
51,401,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Rab33b
|
UTSW |
3 |
51,391,795 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9315:Rab33b
|
UTSW |
3 |
51,401,000 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Rab33b
|
UTSW |
3 |
51,391,755 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTTGTCACTGCTAGGGAG -3'
(R):5'- GAGGAACAATGCCTCAGAAGTTTG -3'
Sequencing Primer
(F):5'- TGGCGTGGCGTCATTCC -3'
(R):5'- CAATGCCTCAGAAGTTTGATAGATAC -3'
|
| Posted On |
2019-02-13 |
Incidental Mutation