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 |