Incidental Mutation 'R3440:Rab36'
ID |
267355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rab36
|
Ensembl Gene |
ENSMUSG00000020175 |
Gene Name |
RAB36, member RAS oncogene family |
Synonyms |
|
MMRRC Submission |
040658-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3440 (G1)
|
Quality Score |
225 |
Status
|
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: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (29/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
C |
A |
2: 103,397,577 (GRCm39) |
A169E |
probably benign |
Het |
Adam3 |
T |
C |
8: 25,170,759 (GRCm39) |
|
probably benign |
Het |
Agmo |
C |
T |
12: 37,293,799 (GRCm39) |
T74I |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,865,602 (GRCm39) |
V862A |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,096,061 (GRCm39) |
Q4614* |
probably null |
Het |
Cavin2 |
T |
A |
1: 51,340,565 (GRCm39) |
V414E |
probably damaging |
Het |
Clrn3 |
A |
C |
7: 135,115,854 (GRCm39) |
Y165* |
probably null |
Het |
Cp |
A |
T |
3: 20,029,121 (GRCm39) |
M533L |
probably benign |
Het |
Dhrs3 |
T |
A |
4: 144,646,628 (GRCm39) |
M226K |
probably damaging |
Het |
Fignl2 |
A |
G |
15: 100,951,004 (GRCm39) |
F426S |
unknown |
Het |
Fpr1 |
C |
T |
17: 18,097,420 (GRCm39) |
D190N |
probably benign |
Het |
Grik3 |
C |
A |
4: 125,587,763 (GRCm39) |
L628M |
probably damaging |
Het |
Grik3 |
T |
A |
4: 125,587,764 (GRCm39) |
L628Q |
probably damaging |
Het |
Grin2c |
T |
A |
11: 115,141,469 (GRCm39) |
D883V |
probably damaging |
Het |
Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
H2-Eb1 |
A |
G |
17: 34,528,655 (GRCm39) |
E62G |
probably damaging |
Het |
Kif1a |
C |
T |
1: 92,964,575 (GRCm39) |
D1334N |
possibly damaging |
Het |
Lef1 |
A |
G |
3: 130,978,407 (GRCm39) |
D175G |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,352,658 (GRCm39) |
|
probably null |
Het |
Or6k2 |
A |
T |
1: 173,986,746 (GRCm39) |
M136L |
probably benign |
Het |
Pgr |
A |
T |
9: 8,922,630 (GRCm39) |
N600I |
probably damaging |
Het |
Selp |
T |
C |
1: 163,951,344 (GRCm39) |
F26S |
probably benign |
Het |
Tchh |
A |
T |
3: 93,352,414 (GRCm39) |
D618V |
unknown |
Het |
Tenm4 |
A |
T |
7: 96,202,723 (GRCm39) |
M88L |
probably benign |
Het |
Zfat |
A |
T |
15: 67,956,402 (GRCm39) |
D1143E |
probably benign |
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 |
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'- CAATGACATTGGCCAAAGGG -3'
(R):5'- GGCCTTTACCACACCCTTCA -3'
Sequencing Primer
(F):5'- GGAGTGTATGTTCTCCCATATCCCAG -3'
(R):5'- AAACTGTTTCCCAGGCTCAGG -3'
|
Posted On |
2015-02-18 |