Incidental Mutation 'R0592:Rab37'
| ID |
56031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab37
|
| Ensembl Gene |
ENSMUSG00000020732 |
| Gene Name |
RAB37, member RAS oncogene family |
| Synonyms |
B230354I04Rik, B230331O03Rik |
| MMRRC Submission |
038782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R0592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114982257-115053062 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 115051349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021076]
[ENSMUST00000021077]
[ENSMUST00000067754]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021076
|
| SMART Domains |
Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
RAB
|
31 |
194 |
9.38e-93 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021077
|
| SMART Domains |
Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
22 |
94 |
2.9e-20 |
SMART |
|
PDZ
|
157 |
229 |
6.03e-18 |
SMART |
|
Pfam:EBP50_C
|
230 |
355 |
1.4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067754
|
| SMART Domains |
Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
23 |
187 |
1.27e-89 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156383
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
| Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
| Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
| Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
| Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
| Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
| Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
| Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
Het |
|
| Other mutations in Rab37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02057:Rab37
|
APN |
11 |
115,051,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03278:Rab37
|
APN |
11 |
115,050,517 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0051:Rab37
|
UTSW |
11 |
115,049,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Rab37
|
UTSW |
11 |
115,047,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Rab37
|
UTSW |
11 |
115,047,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Rab37
|
UTSW |
11 |
115,049,528 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1958:Rab37
|
UTSW |
11 |
115,051,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Rab37
|
UTSW |
11 |
115,049,390 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5423:Rab37
|
UTSW |
11 |
115,047,853 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6196:Rab37
|
UTSW |
11 |
115,051,132 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6488:Rab37
|
UTSW |
11 |
115,048,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7539:Rab37
|
UTSW |
11 |
115,051,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8075:Rab37
|
UTSW |
11 |
114,982,759 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9218:Rab37
|
UTSW |
11 |
115,051,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:Rab37
|
UTSW |
11 |
115,045,065 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGAAAGGGTGATCCGTTCTGAAG -3'
(R):5'- TTCCCATGATGCAGGGAAGCTAAAG -3'
Sequencing Primer
(F):5'- TCCGTTCTGAAGATGGAGAGAC -3'
(R):5'- TTGGAGTACTGCATCCCCAAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation