Incidental Mutation 'IGL02373:Rab12'
| ID |
290990 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab12
|
| Ensembl Gene |
ENSMUSG00000023460 |
| Gene Name |
RAB12, member RAS oncogene family |
| Synonyms |
2900054P15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
66801507-66826712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66805060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 156
(L156P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070538]
[ENSMUST00000167962]
|
| AlphaFold |
P35283 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070538
AA Change: L204P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070134
Gene: ENSMUSG00000023460
AA Change: L204P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
RAB
|
90 |
254 |
2.49e-97 |
SMART |
|
low complexity region
|
273 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155026
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167962
AA Change: L156P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128645
Gene: ENSMUSG00000023460
AA Change: L156P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
RAB
|
42 |
206 |
2.49e-97 |
SMART |
|
low complexity region
|
225 |
238 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
T |
4: 86,168,042 (GRCm39) |
L462F |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,607,832 (GRCm39) |
D4080G |
possibly damaging |
Het |
| Apc |
A |
C |
18: 34,449,212 (GRCm39) |
D2002A |
probably damaging |
Het |
| Apobr |
T |
A |
7: 126,184,563 (GRCm39) |
F25I |
probably damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,378,274 (GRCm39) |
L120* |
probably null |
Het |
| Daam2 |
A |
G |
17: 49,780,408 (GRCm39) |
S704P |
probably damaging |
Het |
| Dcst1 |
G |
T |
3: 89,265,198 (GRCm39) |
N217K |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fmn1 |
C |
A |
2: 113,194,471 (GRCm39) |
P57Q |
unknown |
Het |
| Galnt1 |
G |
A |
18: 24,413,092 (GRCm39) |
G464D |
possibly damaging |
Het |
| Ggcx |
T |
A |
6: 72,404,902 (GRCm39) |
W437R |
probably damaging |
Het |
| Igkv13-54-1 |
T |
C |
6: 69,594,304 (GRCm39) |
|
noncoding transcript |
Het |
| Iglon5 |
T |
C |
7: 43,128,643 (GRCm39) |
E58G |
probably benign |
Het |
| Met |
C |
T |
6: 17,491,528 (GRCm39) |
P97S |
probably damaging |
Het |
| Msantd5f6 |
T |
C |
4: 73,321,880 (GRCm39) |
M52V |
probably benign |
Het |
| Myg1 |
T |
A |
15: 102,245,268 (GRCm39) |
M158K |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,372,453 (GRCm39) |
M131L |
probably benign |
Het |
| Nipa2 |
T |
C |
7: 55,582,876 (GRCm39) |
I290V |
probably benign |
Het |
| Or4f14b |
C |
A |
2: 111,775,178 (GRCm39) |
V208L |
probably benign |
Het |
| Or5p79 |
A |
T |
7: 108,221,310 (GRCm39) |
Y97F |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,334 (GRCm39) |
L84S |
probably benign |
Het |
| Ppfia3 |
C |
T |
7: 45,008,273 (GRCm39) |
R48Q |
probably damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,726,218 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
C |
2: 130,526,818 (GRCm39) |
N770S |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,372 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
A |
T |
17: 23,295,866 (GRCm39) |
R679* |
probably null |
Het |
| Vwa5b2 |
G |
A |
16: 20,423,594 (GRCm39) |
R1169H |
probably damaging |
Het |
|
| Other mutations in Rab12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01533:Rab12
|
APN |
17 |
66,804,430 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01541:Rab12
|
APN |
17 |
66,804,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01702:Rab12
|
APN |
17 |
66,826,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02656:Rab12
|
APN |
17 |
66,813,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02826:Rab12
|
APN |
17 |
66,805,111 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Rab12
|
UTSW |
17 |
66,807,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Rab12
|
UTSW |
17 |
66,807,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Rab12
|
UTSW |
17 |
66,807,315 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4039:Rab12
|
UTSW |
17 |
66,807,396 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4863:Rab12
|
UTSW |
17 |
66,805,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Rab12
|
UTSW |
17 |
66,804,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9645:Rab12
|
UTSW |
17 |
66,826,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Rab12
|
UTSW |
17 |
66,826,513 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2015-04-16 |
Incidental Mutation