Incidental Mutation 'IGL03282:Rab21'
| ID |
415633 |
| 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 # |
IGL03282
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
115125767-115151540 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 115134803 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atl1 |
A |
G |
12: 70,001,238 (GRCm39) |
I333M |
possibly damaging |
Het |
| Atxn2 |
A |
G |
5: 121,923,298 (GRCm39) |
T52A |
probably benign |
Het |
| Atxn7 |
T |
A |
14: 14,100,564 (GRCm38) |
L750H |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,465,856 (GRCm38) |
|
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,344,261 (GRCm39) |
I264F |
possibly damaging |
Het |
| Dnah6 |
G |
T |
6: 73,030,630 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,029,641 (GRCm39) |
S1335G |
probably benign |
Het |
| Gm10073 |
A |
T |
8: 107,299,972 (GRCm39) |
V4D |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,155,391 (GRCm39) |
M342K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,358,741 (GRCm39) |
F2607L |
probably benign |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,485 (GRCm39) |
Y112C |
probably damaging |
Het |
| Itga4 |
A |
T |
2: 79,155,938 (GRCm39) |
H968L |
probably damaging |
Het |
| Me1 |
C |
T |
9: 86,495,649 (GRCm39) |
R286Q |
probably damaging |
Het |
| Med1 |
G |
A |
11: 98,047,643 (GRCm39) |
T1051M |
probably damaging |
Het |
| Msh2 |
T |
G |
17: 87,996,430 (GRCm39) |
D379E |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,958,547 (GRCm39) |
M118L |
possibly damaging |
Het |
| Ostm1 |
A |
T |
10: 42,574,227 (GRCm39) |
S152C |
probably damaging |
Het |
| Pla2g1b |
A |
G |
5: 115,608,939 (GRCm39) |
N45D |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 72,036,096 (GRCm39) |
|
probably benign |
Het |
| Slc38a8 |
G |
T |
8: 120,226,455 (GRCm39) |
N111K |
probably damaging |
Het |
| Snrnp35 |
A |
G |
5: 124,628,372 (GRCm39) |
T62A |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,673,992 (GRCm39) |
I540V |
probably benign |
Het |
| Tgm1 |
A |
G |
14: 55,948,527 (GRCm39) |
V208A |
probably damaging |
Het |
| Vmn1r62 |
A |
T |
7: 5,678,547 (GRCm39) |
D76V |
possibly damaging |
Het |
| Vmn1r90 |
T |
A |
7: 14,295,426 (GRCm39) |
H224L |
probably benign |
Het |
| Vmn1r90 |
A |
T |
7: 14,296,093 (GRCm39) |
S2T |
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 |
|
|
IGL03232:Rab21
|
APN |
10 |
115,130,767 (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