Incidental Mutation 'R5043:Rab36'
| ID |
393308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab36
|
| Ensembl Gene |
ENSMUSG00000020175 |
| Gene Name |
RAB36, member RAS oncogene family |
| Synonyms |
|
| MMRRC Submission |
042633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5043 (G1)
|
| Quality Score |
192 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
74872890-74890580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74886837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 182
(E182K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020391]
[ENSMUST00000139384]
[ENSMUST00000146440]
[ENSMUST00000147802]
|
| AlphaFold |
Q8CAM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020391
|
| SMART Domains |
Protein: ENSMUSP00000020391
Gene: ENSMUSG00000020175
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
59 |
224 |
6.4e-45 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139384
|
| SMART Domains |
Protein: ENSMUSP00000118718
Gene: ENSMUSG00000020175
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
42 |
134 |
6.3e-8 |
PFAM |
|
Pfam:Ras
|
74 |
134 |
1.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146440
AA Change: E182K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000121693
Gene: ENSMUSG00000020175
AA Change: E182K
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
59 |
224 |
6.4e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147802
AA Change: E182K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000119399
Gene: ENSMUSG00000020175
AA Change: E182K
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
59 |
224 |
6.4e-45 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151432
|
| Meta Mutation Damage Score |
0.0740 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,980,910 (GRCm39) |
Y106* |
probably null |
Het |
| Acsbg3 |
A |
G |
17: 57,192,198 (GRCm39) |
Y587C |
probably damaging |
Het |
| Akap12 |
G |
C |
10: 4,305,047 (GRCm39) |
G619A |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,767,653 (GRCm39) |
K32E |
probably benign |
Het |
| Capg |
T |
A |
6: 72,535,237 (GRCm39) |
Y253* |
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,942,162 (GRCm39) |
F189L |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,028,081 (GRCm39) |
S496P |
probably benign |
Het |
| Cxcl11 |
T |
C |
5: 92,511,011 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,399,785 (GRCm39) |
L217P |
probably benign |
Het |
| Dip2c |
G |
T |
13: 9,601,863 (GRCm39) |
R274L |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,606,147 (GRCm39) |
S3776L |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,097,362 (GRCm39) |
T94A |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,400,174 (GRCm39) |
Y397* |
probably null |
Het |
| Gabrp |
T |
C |
11: 33,518,072 (GRCm39) |
N79D |
probably benign |
Het |
| Glmp |
T |
G |
3: 88,233,983 (GRCm39) |
|
probably benign |
Het |
| Gm5921 |
C |
T |
9: 115,267,087 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6483 |
A |
G |
8: 19,743,686 (GRCm39) |
T104A |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,314,284 (GRCm39) |
M52K |
probably damaging |
Het |
| Iqcc |
T |
C |
4: 129,512,070 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,197,135 (GRCm39) |
H288L |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,771,224 (GRCm39) |
|
probably null |
Het |
| Nisch |
A |
G |
14: 30,898,422 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,824 (GRCm39) |
N575S |
probably benign |
Het |
| Or1n2 |
A |
C |
2: 36,796,977 (GRCm39) |
R6S |
probably benign |
Het |
| Or8b49 |
A |
G |
9: 38,506,137 (GRCm39) |
I207V |
probably damaging |
Het |
| Phlda1 |
T |
A |
10: 111,343,152 (GRCm39) |
L296Q |
unknown |
Het |
| Pramel19 |
T |
C |
4: 101,797,721 (GRCm39) |
F40L |
possibly damaging |
Het |
| Rasa3 |
G |
A |
8: 13,620,368 (GRCm39) |
T767M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,297,195 (GRCm39) |
V24M |
probably damaging |
Het |
| Slc7a14 |
T |
G |
3: 31,291,615 (GRCm39) |
N221T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,721 (GRCm39) |
S331P |
possibly damaging |
Het |
| Snx1 |
C |
T |
9: 66,004,718 (GRCm39) |
A183T |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,729,515 (GRCm39) |
T375A |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,134,672 (GRCm39) |
|
probably null |
Het |
| Topaz1 |
A |
T |
9: 122,577,469 (GRCm39) |
E126D |
probably benign |
Het |
| Ugt2b1 |
C |
G |
5: 87,065,503 (GRCm39) |
C512S |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,399,719 (GRCm39) |
W263* |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,634,608 (GRCm39) |
M750K |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,608,109 (GRCm39) |
Y1257C |
probably damaging |
Het |
|
| Other mutations in Rab36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01299:Rab36
|
APN |
10 |
74,884,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01554:Rab36
|
APN |
10 |
74,886,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02197:Rab36
|
APN |
10 |
74,887,874 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2022:Rab36
|
UTSW |
10 |
74,888,306 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2907:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2991:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3012:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3033:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3034:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3035:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3036:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3440:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3686:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3687:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3688:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4398:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4427:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4433:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4456:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4457:Rab36
|
UTSW |
10 |
74,880,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4467:Rab36
|
UTSW |
10 |
74,887,875 (GRCm39) |
nonsense |
probably null |
|
|
R4689:Rab36
|
UTSW |
10 |
74,877,765 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5568:Rab36
|
UTSW |
10 |
74,888,311 (GRCm39) |
missense |
probably benign |
|
|
R8354:Rab36
|
UTSW |
10 |
74,884,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Rab36
|
UTSW |
10 |
74,888,335 (GRCm39) |
missense |
probably benign |
|
|
R9594:Rab36
|
UTSW |
10 |
74,887,873 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9703:Rab36
|
UTSW |
10 |
74,886,474 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTGTGTTTGCAGCCAACTC -3'
(R):5'- CCTTTCACTCCCAGAGGTTG -3'
Sequencing Primer
(F):5'- CCGAATGATACTGACATGCTTTCTG -3'
(R):5'- GGATTTCCAGCTTTGCTCTTTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation