Incidental Mutation 'IGL00587:Rab28'
| ID |
10356 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab28
|
| Ensembl Gene |
ENSMUSG00000029128 |
| Gene Name |
RAB28, member RAS oncogene family |
| Synonyms |
2700023P08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
IGL00587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
41782319-41865500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41860799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 52
(R52G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031011]
[ENSMUST00000201422]
[ENSMUST00000202913]
|
| AlphaFold |
Q99KL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031011
AA Change: R52G
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031011
Gene: ENSMUSG00000029128
AA Change: R52G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
3 |
177 |
1.1e-13 |
PFAM |
|
Pfam:Roc
|
14 |
133 |
9e-28 |
PFAM |
|
Pfam:Gtr1_RagA
|
14 |
178 |
3.2e-7 |
PFAM |
|
Pfam:Ras
|
14 |
179 |
3.3e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201422
AA Change: R52G
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144541
Gene: ENSMUSG00000029128
AA Change: R52G
| Domain | Start | End | E-Value | Type |
|---|
|
small_GTPase
|
10 |
180 |
1.3e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202913
AA Change: R52G
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144440
Gene: ENSMUSG00000029128
AA Change: R52G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
3 |
176 |
6e-14 |
PFAM |
|
Pfam:Roc
|
14 |
133 |
4.8e-28 |
PFAM |
|
Pfam:Gtr1_RagA
|
14 |
177 |
1.7e-7 |
PFAM |
|
Pfam:Ras
|
14 |
179 |
1.8e-40 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
A |
C |
15: 97,143,327 (GRCm39) |
M365R |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,208,775 (GRCm39) |
D352G |
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,374,346 (GRCm39) |
T265A |
probably damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,804,225 (GRCm39) |
S43P |
probably damaging |
Het |
| Chchd6 |
A |
T |
6: 89,546,399 (GRCm39) |
|
probably null |
Het |
| Cr2 |
C |
T |
1: 194,836,559 (GRCm39) |
R868Q |
possibly damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,344 (GRCm39) |
S126P |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,711 (GRCm39) |
I794N |
probably damaging |
Het |
| Fga |
A |
T |
3: 82,937,596 (GRCm39) |
S158C |
possibly damaging |
Het |
| Gm14240 |
T |
C |
2: 155,894,870 (GRCm39) |
|
probably null |
Het |
| Itga1 |
C |
A |
13: 115,148,785 (GRCm39) |
V279L |
probably damaging |
Het |
| Kdm1b |
T |
C |
13: 47,222,016 (GRCm39) |
V485A |
probably benign |
Het |
| Mfap3l |
T |
C |
8: 61,124,943 (GRCm39) |
V395A |
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,780,974 (GRCm39) |
V57E |
probably benign |
Het |
| P2ry12 |
A |
T |
3: 59,125,303 (GRCm39) |
I124K |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,977,550 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,222 (GRCm39) |
|
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,745 (GRCm39) |
|
probably null |
Het |
| Sel1l2 |
G |
A |
2: 140,085,864 (GRCm39) |
L539F |
possibly damaging |
Het |
| Ticam2 |
T |
C |
18: 46,693,880 (GRCm39) |
E69G |
probably benign |
Het |
| Zcchc2 |
T |
A |
1: 105,957,993 (GRCm39) |
S821R |
probably benign |
Het |
| Zcchc4 |
T |
A |
5: 52,973,511 (GRCm39) |
S379T |
probably benign |
Het |
| Zfp53 |
T |
C |
17: 21,728,600 (GRCm39) |
V211A |
probably benign |
Het |
| Zmym2 |
T |
G |
14: 57,140,817 (GRCm39) |
S219A |
possibly damaging |
Het |
|
| Other mutations in Rab28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01125:Rab28
|
APN |
5 |
41,793,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01413:Rab28
|
APN |
5 |
41,855,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1005:Rab28
|
UTSW |
5 |
41,855,726 (GRCm39) |
splice site |
probably benign |
|
|
R1606:Rab28
|
UTSW |
5 |
41,855,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Rab28
|
UTSW |
5 |
41,783,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6243:Rab28
|
UTSW |
5 |
41,793,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6875:Rab28
|
UTSW |
5 |
41,860,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Rab28
|
UTSW |
5 |
41,855,735 (GRCm39) |
nonsense |
probably null |
|
|
R7727:Rab28
|
UTSW |
5 |
41,865,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9419:Rab28
|
UTSW |
5 |
41,793,182 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2012-12-06 |
Incidental Mutation