Incidental Mutation 'R4301:Rab37'
| ID |
322422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab37
|
| Ensembl Gene |
ENSMUSG00000020732 |
| Gene Name |
RAB37, member RAS oncogene family |
| Synonyms |
B230354I04Rik, B230331O03Rik |
| MMRRC Submission |
041088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114982257-115053062 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115049390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 95
(D95E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021076]
[ENSMUST00000021077]
[ENSMUST00000067754]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021076
AA Change: D102E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732
AA Change: D102E
| 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 |
possibly damaging
Transcript: ENSMUST00000067754
AA Change: D95E
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732
AA Change: D95E
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
23 |
187 |
1.27e-89 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156383
|
| Meta Mutation Damage Score |
0.4898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,377,266 (GRCm39) |
V95D |
probably damaging |
Het |
| Adamtsl2 |
A |
G |
2: 26,977,295 (GRCm39) |
D252G |
probably null |
Het |
| Adgra3 |
T |
C |
5: 50,118,420 (GRCm39) |
R1043G |
possibly damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,237 (GRCm39) |
D562G |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,228 (GRCm39) |
V6A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,718,810 (GRCm39) |
V337A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Crb1 |
A |
G |
1: 139,176,568 (GRCm39) |
S472P |
probably benign |
Het |
| Fam193b |
G |
A |
13: 55,690,417 (GRCm39) |
R740* |
probably null |
Het |
| Fer |
G |
T |
17: 64,385,905 (GRCm39) |
L292F |
probably damaging |
Het |
| Gmppa |
G |
A |
1: 75,419,140 (GRCm39) |
R349H |
possibly damaging |
Het |
| Hspa1a |
T |
C |
17: 35,189,482 (GRCm39) |
I474V |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,939,563 (GRCm39) |
S6P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,478,358 (GRCm39) |
S133P |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,216,169 (GRCm39) |
Y294H |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,106 (GRCm39) |
F122I |
possibly damaging |
Het |
| Mypn |
A |
G |
10: 62,954,263 (GRCm39) |
Y124H |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,082,327 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,641,332 (GRCm39) |
|
probably null |
Het |
| Or5a3 |
T |
C |
19: 12,400,081 (GRCm39) |
L136P |
probably damaging |
Het |
| Pgm2 |
G |
A |
5: 64,261,140 (GRCm39) |
W51* |
probably null |
Het |
| Phip |
G |
A |
9: 82,841,766 (GRCm39) |
R48* |
probably null |
Het |
| Piezo2 |
T |
C |
18: 63,217,911 (GRCm39) |
T1075A |
probably damaging |
Het |
| Ppat |
G |
T |
5: 77,076,348 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 43,031,811 (GRCm39) |
E23D |
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,406,517 (GRCm39) |
I169V |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,627,234 (GRCm39) |
V50A |
probably benign |
Het |
| Siae |
C |
A |
9: 37,545,009 (GRCm39) |
Q335K |
possibly damaging |
Het |
| Snx14 |
A |
T |
9: 88,292,676 (GRCm39) |
I217K |
probably damaging |
Het |
| Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,471 (GRCm39) |
L1143S |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,335,939 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,964,656 (GRCm39) |
S1374P |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,215,802 (GRCm39) |
D266E |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zbtb10 |
A |
T |
3: 9,330,220 (GRCm39) |
Q526L |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,078,018 (GRCm39) |
|
probably benign |
Het |
| Zswim8 |
G |
A |
14: 20,763,977 (GRCm39) |
R449H |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,779,861 (GRCm39) |
V1878A |
probably damaging |
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 |
|
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 |
|
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'- AGCCTTGAGAACTGTGAGAAACC -3'
(R):5'- TTCTGGCTGCTCATGACAGG -3'
Sequencing Primer
(F):5'- CCTTGAGAACTGTGAGAAACCCAAAG -3'
(R):5'- CTCATGACAGGCAGGGTTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation