Incidental Mutation 'R3871:Rab24'
| ID |
276574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab24
|
| Ensembl Gene |
ENSMUSG00000034789 |
| Gene Name |
RAB24, member RAS oncogene family |
| Synonyms |
6530406O07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3871 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55467556-55469759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55468992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 63
(D63G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021941]
[ENSMUST00000021942]
[ENSMUST00000035242]
[ENSMUST00000099490]
[ENSMUST00000224685]
|
| AlphaFold |
P35290 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021941
|
| SMART Domains |
Protein: ENSMUSP00000021941
Gene: ENSMUSG00000021485
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
HLH
|
63 |
115 |
5.8e-11 |
SMART |
|
low complexity region
|
119 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021942
|
| SMART Domains |
Protein: ENSMUSP00000021942
Gene: ENSMUSG00000021486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRELI
|
16 |
172 |
1.9e-61 |
PFAM |
|
coiled coil region
|
178 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035242
AA Change: D63G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046188
Gene: ENSMUSG00000034789
AA Change: D63G
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
8 |
175 |
2.39e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099490
|
| SMART Domains |
Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
177 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
289 |
N/A |
INTRINSIC |
|
PWWP
|
322 |
388 |
1.97e-3 |
SMART |
|
low complexity region
|
635 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
1000 |
N/A |
INTRINSIC |
|
low complexity region
|
1296 |
1309 |
N/A |
INTRINSIC |
|
PHD
|
1546 |
1588 |
4.25e-8 |
SMART |
|
PHD
|
1593 |
1640 |
3.79e-5 |
SMART |
|
RING
|
1594 |
1639 |
1.08e-1 |
SMART |
|
PHD
|
1641 |
1694 |
1.09e1 |
SMART |
|
PHD
|
1710 |
1750 |
1.02e-10 |
SMART |
|
PWWP
|
1755 |
1817 |
8.87e-29 |
SMART |
|
AWS
|
1891 |
1942 |
3.02e-22 |
SMART |
|
SET
|
1943 |
2066 |
1e-45 |
SMART |
|
PostSET
|
2067 |
2083 |
3.99e-3 |
SMART |
|
PHD
|
2121 |
2164 |
1.08e-9 |
SMART |
|
low complexity region
|
2224 |
2237 |
N/A |
INTRINSIC |
|
low complexity region
|
2276 |
2286 |
N/A |
INTRINSIC |
|
low complexity region
|
2335 |
2356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146181
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224220
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224936
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM, Aug 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,602,117 (GRCm39) |
Y225* |
probably null |
Het |
| Bard1 |
T |
C |
1: 71,114,099 (GRCm39) |
K294R |
probably benign |
Het |
| Bcap29 |
A |
T |
12: 31,667,080 (GRCm39) |
S194T |
probably benign |
Het |
| Ccdc40 |
G |
A |
11: 119,155,107 (GRCm39) |
V1116M |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,060,867 (GRCm39) |
D92G |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,674,463 (GRCm39) |
F197L |
probably benign |
Het |
| Filip1l |
G |
T |
16: 57,333,649 (GRCm39) |
K147N |
probably damaging |
Het |
| Hrnr |
T |
A |
3: 93,239,181 (GRCm39) |
S3140T |
unknown |
Het |
| Igfn1 |
G |
T |
1: 135,896,574 (GRCm39) |
H1331N |
probably benign |
Het |
| Kalrn |
C |
T |
16: 34,024,226 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
TTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGC |
15: 98,748,902 (GRCm39) |
|
probably benign |
Het |
| Mfng |
A |
G |
15: 78,640,821 (GRCm39) |
L308P |
probably damaging |
Het |
| Nt5e |
C |
A |
9: 88,246,746 (GRCm39) |
N327K |
probably benign |
Het |
| Or5m13 |
T |
G |
2: 85,748,926 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
| Phactr4 |
T |
C |
4: 132,104,560 (GRCm39) |
T256A |
probably benign |
Het |
| Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
| Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
| Serpina3b |
A |
T |
12: 104,105,047 (GRCm39) |
I408F |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,035,753 (GRCm39) |
D746G |
probably damaging |
Het |
| Sf3a2 |
A |
C |
10: 80,640,527 (GRCm39) |
|
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
| Snx9 |
C |
T |
17: 5,942,056 (GRCm39) |
P61L |
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,988,701 (GRCm39) |
K20E |
probably benign |
Het |
| Tas2r122 |
A |
G |
6: 132,688,543 (GRCm39) |
S117P |
probably benign |
Het |
| Tmem26 |
G |
A |
10: 68,614,562 (GRCm39) |
E326K |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,781,380 (GRCm39) |
C789S |
probably null |
Het |
| Togaram1 |
A |
C |
12: 65,049,419 (GRCm39) |
E1285D |
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,200,248 (GRCm39) |
S335T |
possibly damaging |
Het |
| Unc119b |
G |
A |
5: 115,268,567 (GRCm39) |
T106M |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
| Usp32 |
T |
C |
11: 84,971,982 (GRCm39) |
D129G |
probably null |
Het |
|
| Other mutations in Rab24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0518:Rab24
|
UTSW |
13 |
55,468,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0521:Rab24
|
UTSW |
13 |
55,468,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5935:Rab24
|
UTSW |
13 |
55,468,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Rab24
|
UTSW |
13 |
55,469,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7528:Rab24
|
UTSW |
13 |
55,468,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Rab24
|
UTSW |
13 |
55,468,120 (GRCm39) |
splice site |
probably null |
|
|
R8044:Rab24
|
UTSW |
13 |
55,469,345 (GRCm39) |
unclassified |
probably benign |
|
|
R9416:Rab24
|
UTSW |
13 |
55,468,049 (GRCm39) |
missense |
unknown |
|
|
V1024:Rab24
|
UTSW |
13 |
55,468,561 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTGGCTCTCTCAAAGCTGC -3'
(R):5'- TTGTGCAAACCTGTCTCCCG -3'
Sequencing Primer
(F):5'- CTGCTGCTGTCAGTGAGGTC -3'
(R):5'- GCAAACCTGTCTCCCGAATTTAATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation