Incidental Mutation 'R3688:Rab36'
| ID |
269627 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3688 (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: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,415,968 (GRCm39) |
I687T |
possibly damaging |
Het |
| A1cf |
T |
A |
19: 31,888,569 (GRCm39) |
F100I |
probably damaging |
Het |
| Adam12 |
A |
T |
7: 133,566,525 (GRCm39) |
Y308* |
probably null |
Het |
| Adam3 |
T |
C |
8: 25,193,864 (GRCm39) |
T383A |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,743,556 (GRCm39) |
T351A |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,494,246 (GRCm39) |
H956R |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
| Cept1 |
G |
T |
3: 106,427,331 (GRCm39) |
N236K |
probably benign |
Het |
| Col15a1 |
C |
T |
4: 47,258,689 (GRCm39) |
T360I |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
| Efl1 |
T |
A |
7: 82,412,178 (GRCm39) |
S856T |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,171,927 (GRCm39) |
T2929A |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,910 (GRCm39) |
H293R |
possibly damaging |
Het |
| Hdac10 |
C |
T |
15: 89,007,767 (GRCm39) |
|
probably null |
Het |
| Il17rd |
C |
A |
14: 26,761,105 (GRCm39) |
N15K |
probably null |
Het |
| Kcnt1 |
C |
T |
2: 25,784,371 (GRCm39) |
T258I |
probably damaging |
Het |
| Kif5a |
T |
G |
10: 127,078,643 (GRCm39) |
N334T |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,024,331 (GRCm39) |
|
probably null |
Het |
| Naa80 |
T |
C |
9: 107,460,549 (GRCm39) |
V148A |
possibly damaging |
Het |
| Or9a2 |
G |
T |
6: 41,749,160 (GRCm39) |
Y24* |
probably null |
Het |
| Pard3b |
A |
G |
1: 62,518,728 (GRCm39) |
T938A |
probably benign |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
| Pfkm |
T |
A |
15: 98,029,398 (GRCm39) |
N697K |
probably benign |
Het |
| Prr23a4 |
A |
T |
9: 98,785,517 (GRCm39) |
M61L |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
| Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
| Slc34a2 |
G |
A |
5: 53,222,174 (GRCm39) |
G289S |
probably benign |
Het |
| Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
| Swt1 |
A |
T |
1: 151,267,240 (GRCm39) |
M647K |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,632,193 (GRCm39) |
V872A |
probably damaging |
Het |
| Ubqln4 |
T |
C |
3: 88,470,466 (GRCm39) |
S313P |
probably damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,544 (GRCm39) |
T225S |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,629 (GRCm39) |
H728L |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,673,274 (GRCm39) |
|
probably null |
Het |
| Vwde |
T |
A |
6: 13,186,891 (GRCm39) |
R865S |
probably damaging |
Het |
| Zfp408 |
T |
A |
2: 91,476,777 (GRCm39) |
M126L |
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 |
|
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 |
|
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'- GCCTTTACCACACCCTTCAA -3'
Sequencing Primer
(F):5'- GGAGTGTATGTTCTCCCATATCCCAG -3'
(R):5'- AAACTGTTTCCCAGGCTCAGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation