Incidental Mutation 'IGL01299:Rab36'
| ID |
75196 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab36
|
| Ensembl Gene |
ENSMUSG00000020175 |
| Gene Name |
RAB36, member RAS oncogene family |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01299
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
74872890-74890580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74884298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 82
(Q82R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118718
(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 damaging
Transcript: ENSMUST00000139384
AA Change: Q82R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118718
Gene: ENSMUSG00000020175
AA Change: Q82R
| 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 damaging
Transcript: ENSMUST00000146440
AA Change: Q116R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121693
Gene: ENSMUSG00000020175
AA Change: Q116R
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
59 |
224 |
6.4e-45 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147802
AA Change: Q116R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119399
Gene: ENSMUSG00000020175
AA Change: Q116R
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
59 |
224 |
6.4e-45 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151432
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,248,743 (GRCm39) |
T2830I |
probably benign |
Het |
| Akap1 |
C |
T |
11: 88,735,080 (GRCm39) |
|
probably null |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
| Cox6b1 |
G |
A |
7: 30,316,553 (GRCm39) |
T81I |
possibly damaging |
Het |
| Creb1 |
T |
C |
1: 64,609,284 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
G |
T |
17: 32,886,948 (GRCm39) |
A140S |
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,690,823 (GRCm39) |
M276T |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,705,599 (GRCm39) |
N413K |
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,504,476 (GRCm39) |
T280A |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,524,588 (GRCm39) |
T217A |
possibly damaging |
Het |
| Mtr |
T |
C |
13: 12,240,536 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
G |
3: 55,598,315 (GRCm39) |
D2398A |
probably damaging |
Het |
| Or3a4 |
T |
A |
11: 73,945,301 (GRCm39) |
I95F |
probably benign |
Het |
| Phyh |
T |
A |
2: 4,935,604 (GRCm39) |
W193R |
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,328,639 (GRCm39) |
V2846A |
probably damaging |
Het |
| Rprd2 |
G |
A |
3: 95,683,859 (GRCm39) |
S374L |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,308,382 (GRCm39) |
R462G |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,349 (GRCm39) |
N808D |
probably benign |
Het |
| Tbck |
A |
T |
3: 132,430,638 (GRCm39) |
I345F |
probably damaging |
Het |
| Tor2a |
T |
A |
2: 32,649,558 (GRCm39) |
V146D |
probably damaging |
Het |
| Trpc6 |
C |
A |
9: 8,653,062 (GRCm39) |
Q623K |
probably damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,688,681 (GRCm39) |
S192G |
probably damaging |
Het |
| Vnn1 |
T |
A |
10: 23,770,949 (GRCm39) |
L59Q |
probably damaging |
Het |
|
| Other mutations in Rab36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5043:Rab36
|
UTSW |
10 |
74,886,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation