Incidental Mutation 'R3035:Rab36'
| ID |
264823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab36
|
| Ensembl Gene |
ENSMUSG00000020175 |
| Gene Name |
RAB36, member RAS oncogene family |
| Synonyms |
|
| MMRRC Submission |
040551-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3035 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
74872890-74890580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74880328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 63
(V63I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020391]
[ENSMUST00000139384]
[ENSMUST00000146440]
[ENSMUST00000147802]
|
| AlphaFold |
Q8CAM5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020391
AA Change: V63I
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020391
Gene: ENSMUSG00000020175
AA Change: V63I
| 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: V63I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118718
Gene: ENSMUSG00000020175
AA Change: V63I
| 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: V63I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121693
Gene: ENSMUSG00000020175
AA Change: V63I
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
59 |
224 |
6.4e-45 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147802
AA Change: V63I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119399
Gene: ENSMUSG00000020175
AA Change: V63I
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
59 |
224 |
6.4e-45 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151432
|
| Meta Mutation Damage Score |
0.2092 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,575,762 (GRCm39) |
V687D |
probably benign |
Het |
| Ahctf1 |
T |
A |
1: 179,581,435 (GRCm39) |
Q1589L |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,389,540 (GRCm39) |
S479P |
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,866,762 (GRCm39) |
K203E |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,520,559 (GRCm39) |
S433P |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,844,249 (GRCm39) |
S1181P |
possibly damaging |
Het |
| Gsc2 |
A |
G |
16: 17,732,792 (GRCm39) |
S26P |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,730,963 (GRCm39) |
S57P |
unknown |
Het |
| Herc1 |
C |
A |
9: 66,391,217 (GRCm39) |
Q4007K |
possibly damaging |
Het |
| Ighv1-54 |
C |
A |
12: 115,157,597 (GRCm39) |
V17F |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,218,942 (GRCm39) |
E312V |
possibly damaging |
Het |
| Kdf1 |
A |
G |
4: 133,255,373 (GRCm39) |
N30S |
probably benign |
Het |
| Kif11 |
T |
A |
19: 37,395,501 (GRCm39) |
S587T |
possibly damaging |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,640,464 (GRCm39) |
I511V |
probably benign |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Serpinb9b |
T |
A |
13: 33,213,529 (GRCm39) |
C29S |
possibly damaging |
Het |
| Slc12a5 |
C |
A |
2: 164,822,178 (GRCm39) |
L343I |
probably benign |
Het |
| Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGACATTGGCCAAAGGGG -3'
(R):5'- GGCCTTTACCACACCCTTCA -3'
Sequencing Primer
(F):5'- GGAGTGTATGTTCTCCCATATCCCAG -3'
(R):5'- AAACTGTTTCCCAGGCTCAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation