Incidental Mutation 'R3036:Rab36'
ID |
263371 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rab36
|
Ensembl Gene |
ENSMUSG00000020175 |
Gene Name |
RAB36, member RAS oncogene family |
Synonyms |
|
MMRRC Submission |
040552-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3036 (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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg10 |
A |
G |
13: 91,189,017 (GRCm39) |
S98P |
probably damaging |
Het |
Caskin2 |
A |
G |
11: 115,697,182 (GRCm39) |
Y189H |
probably damaging |
Het |
Ces2b |
A |
G |
8: 105,561,258 (GRCm39) |
I143V |
possibly damaging |
Het |
Gpr108 |
A |
G |
17: 57,552,323 (GRCm39) |
V90A |
probably benign |
Het |
Kcnk18 |
T |
A |
19: 59,223,494 (GRCm39) |
V213D |
probably benign |
Het |
Ly6f |
T |
C |
15: 75,140,636 (GRCm39) |
C20R |
probably damaging |
Het |
Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,750,013 (GRCm39) |
C4399R |
probably damaging |
Het |
Myadm |
A |
G |
7: 3,346,059 (GRCm39) |
T274A |
probably benign |
Het |
Nol11 |
A |
G |
11: 107,064,070 (GRCm39) |
S561P |
possibly damaging |
Het |
Pbld2 |
T |
C |
10: 62,907,225 (GRCm39) |
S155P |
probably damaging |
Het |
Sumf1 |
G |
A |
6: 108,130,152 (GRCm39) |
A214V |
possibly damaging |
Het |
Teddm1a |
A |
G |
1: 153,767,656 (GRCm39) |
Y40C |
probably benign |
Het |
Tgm2 |
C |
T |
2: 157,966,167 (GRCm39) |
G496S |
probably benign |
Het |
Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,730,960 (GRCm39) |
|
probably benign |
Het |
Uty |
G |
A |
Y: 1,099,671 (GRCm39) |
R1112* |
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 |
R3035: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'- AATGACATTGGCCAAAGGGG -3'
(R):5'- GGCCTTTACCACACCCTTCAA -3'
Sequencing Primer
(F):5'- GGAGTGTATGTTCTCCCATATCCCAG -3'
(R):5'- AAACTGTTTCCCAGGCTCAGG -3'
|
Posted On |
2015-02-05 |