Incidental Mutation 'R4456:Rab36'
| ID |
329196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab36
|
| Ensembl Gene |
ENSMUSG00000020175 |
| Gene Name |
RAB36, member RAS oncogene family |
| Synonyms |
|
| MMRRC Submission |
041716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4456 (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: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (42/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,833,071 (GRCm39) |
F1210L |
probably benign |
Het |
| Amfr |
C |
T |
8: 94,711,568 (GRCm39) |
A323T |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cdc42ep1 |
A |
G |
15: 78,734,091 (GRCm39) |
E397G |
possibly damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,821,138 (GRCm39) |
T1250A |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,229,800 (GRCm39) |
K2642N |
probably benign |
Het |
| Emcn |
A |
T |
3: 137,085,608 (GRCm39) |
K69* |
probably null |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fbxo38 |
G |
T |
18: 62,659,320 (GRCm39) |
R326S |
probably damaging |
Het |
| Fcer1g |
A |
G |
1: 171,061,808 (GRCm39) |
S3P |
probably benign |
Het |
| Glp1r |
G |
T |
17: 31,137,949 (GRCm39) |
E127* |
probably null |
Het |
| Gnmt |
G |
T |
17: 47,039,910 (GRCm39) |
H56Q |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Hsd3b1 |
G |
A |
3: 98,763,459 (GRCm39) |
T48I |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,515,210 (GRCm39) |
C2878S |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,486,785 (GRCm39) |
Y1290C |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,403,707 (GRCm39) |
Y76C |
probably damaging |
Het |
| Mri1 |
C |
A |
8: 84,983,035 (GRCm39) |
A129S |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,977,407 (GRCm39) |
H1253L |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mthfsd |
C |
T |
8: 121,832,504 (GRCm39) |
V63I |
possibly damaging |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,551,205 (GRCm39) |
V2653A |
probably benign |
Het |
| Nckap5 |
A |
T |
1: 125,842,472 (GRCm39) |
|
probably benign |
Het |
| Notch4 |
G |
A |
17: 34,802,807 (GRCm39) |
V1378M |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,507 (GRCm39) |
S101P |
possibly damaging |
Het |
| Rasl12 |
A |
G |
9: 65,305,866 (GRCm39) |
K7R |
probably null |
Het |
| Rnf4 |
A |
G |
5: 34,508,705 (GRCm39) |
Y189C |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,858 (GRCm39) |
H536R |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
A |
C |
17: 51,089,369 (GRCm39) |
S604A |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,514,567 (GRCm39) |
V400E |
probably damaging |
Het |
| Tom1l2 |
G |
T |
11: 60,243,641 (GRCm39) |
|
probably benign |
Het |
| Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
| Txndc15 |
A |
G |
13: 55,865,977 (GRCm39) |
D147G |
possibly damaging |
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 |
|
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 |
|
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'- GGCCTTTACCACACCCTTCA -3'
Sequencing Primer
(F):5'- GGAGTGTATGTTCTCCCATATCCCAG -3'
(R):5'- AAACTGTTTCCCAGGCTCAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation