Incidental Mutation 'IGL03232:Rab21'
| ID |
413949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab21
|
| Ensembl Gene |
ENSMUSG00000020132 |
| Gene Name |
RAB21, member RAS oncogene family |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
115125767-115151540 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 115130767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020343]
|
| AlphaFold |
P35282 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020343
|
| SMART Domains |
Protein: ENSMUSP00000020343
Gene: ENSMUSG00000020132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
RAB
|
18 |
181 |
2.45e-73 |
SMART |
|
low complexity region
|
214 |
222 |
N/A |
INTRINSIC |
|
| 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 belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. Expression of this gene is associated with a poor prognosis for glioma patients. This gene is downregulated by the tumor suppressor miR-200b, and miRNA-200b is itself downregulated in glioma tissues. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c19 |
A |
G |
13: 4,288,462 (GRCm39) |
T147A |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,187,989 (GRCm39) |
L1532S |
probably damaging |
Het |
| Btbd3 |
G |
A |
2: 138,126,063 (GRCm39) |
A416T |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,369,104 (GRCm39) |
R311H |
probably damaging |
Het |
| Cers2 |
T |
G |
3: 95,227,468 (GRCm39) |
V32G |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,111,751 (GRCm39) |
R277* |
probably null |
Het |
| Cog4 |
A |
G |
8: 111,607,314 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
A |
16: 59,350,731 (GRCm39) |
G870C |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,011,247 (GRCm39) |
H1135Y |
probably benign |
Het |
| Esr1 |
A |
C |
10: 4,919,270 (GRCm39) |
K453N |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,662 (GRCm39) |
I82V |
probably benign |
Het |
| H3c3 |
T |
G |
13: 23,929,164 (GRCm39) |
E106A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,646,103 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,496,446 (GRCm39) |
T17A |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,375,245 (GRCm39) |
A4452T |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,451,165 (GRCm39) |
E948G |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,855,494 (GRCm39) |
K943E |
probably benign |
Het |
| Or5b109 |
T |
A |
19: 13,212,341 (GRCm39) |
C242* |
probably null |
Het |
| Or5b12b |
C |
A |
19: 12,861,636 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p73 |
A |
G |
7: 108,064,812 (GRCm39) |
T94A |
probably benign |
Het |
| Selenoi |
T |
C |
5: 30,461,259 (GRCm39) |
F140S |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,545,317 (GRCm39) |
|
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,772,251 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
T |
C |
15: 85,013,921 (GRCm39) |
I83M |
possibly damaging |
Het |
| Smg7 |
T |
C |
1: 152,715,907 (GRCm39) |
Y1061C |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,911,675 (GRCm39) |
M1K |
probably null |
Het |
| Ubqlnl |
A |
G |
7: 103,797,836 (GRCm39) |
S554P |
possibly damaging |
Het |
|
| Other mutations in Rab21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03117:Rab21
|
APN |
10 |
115,151,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03282:Rab21
|
APN |
10 |
115,134,803 (GRCm39) |
splice site |
probably benign |
|
|
R0285:Rab21
|
UTSW |
10 |
115,126,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0368:Rab21
|
UTSW |
10 |
115,134,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Rab21
|
UTSW |
10 |
115,126,805 (GRCm39) |
missense |
probably benign |
|
|
R2965:Rab21
|
UTSW |
10 |
115,130,814 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2966:Rab21
|
UTSW |
10 |
115,130,814 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3441:Rab21
|
UTSW |
10 |
115,151,214 (GRCm39) |
small deletion |
probably benign |
|
|
R6216:Rab21
|
UTSW |
10 |
115,130,831 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6978:Rab21
|
UTSW |
10 |
115,134,766 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7794:Rab21
|
UTSW |
10 |
115,134,762 (GRCm39) |
nonsense |
probably null |
|
|
R8895:Rab21
|
UTSW |
10 |
115,151,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation