Incidental Mutation 'IGL02057:Rab37'
ID |
185270 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rab37
|
Ensembl Gene |
ENSMUSG00000020732 |
Gene Name |
RAB37, member RAS oncogene family |
Synonyms |
B230354I04Rik, B230331O03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL02057
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
114982257-115053062 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115051543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 217
(S217P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021076]
[ENSMUST00000021077]
[ENSMUST00000067754]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021076
AA Change: S217P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021076 Gene: ENSMUSG00000020732 AA Change: S217P
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
AA Change: S210P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000065016 Gene: ENSMUSG00000020732 AA Change: S210P
Domain | Start | End | E-Value | Type |
RAB
|
23 |
187 |
1.27e-89 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156383
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
Het |
|
Other mutations in Rab37 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R0592:Rab37
|
UTSW |
11 |
115,051,349 (GRCm39) |
splice site |
probably benign |
|
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 |
|
|
Posted On |
2014-05-07 |