Incidental Mutation 'IGL00423:Rab27b'
| ID |
5702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab27b
|
| Ensembl Gene |
ENSMUSG00000024511 |
| Gene Name |
RAB27B, member RAS oncogene family |
| Synonyms |
B130064M09Rik, 2310021G14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
70112202-70274676 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 70129138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069749]
[ENSMUST00000117692]
[ENSMUST00000121693]
|
| AlphaFold |
Q99P58 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069749
|
| SMART Domains |
Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117692
|
| SMART Domains |
Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121693
|
| SMART Domains |
Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for one null allele exhibit impaired platelet aggregation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
| Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
| BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
| Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
| Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
| Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
| Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
| Other mutations in Rab27b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01387:Rab27b
|
APN |
18 |
70,118,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01395:Rab27b
|
APN |
18 |
70,118,288 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01863:Rab27b
|
APN |
18 |
70,122,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03399:Rab27b
|
APN |
18 |
70,120,067 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0701:Rab27b
|
UTSW |
18 |
70,118,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Rab27b
|
UTSW |
18 |
70,120,112 (GRCm39) |
splice site |
probably benign |
|
|
R0833:Rab27b
|
UTSW |
18 |
70,120,112 (GRCm39) |
splice site |
probably benign |
|
|
R0836:Rab27b
|
UTSW |
18 |
70,120,112 (GRCm39) |
splice site |
probably benign |
|
|
R1797:Rab27b
|
UTSW |
18 |
70,122,617 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2427:Rab27b
|
UTSW |
18 |
70,129,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Rab27b
|
UTSW |
18 |
70,127,585 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5133:Rab27b
|
UTSW |
18 |
70,122,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5380:Rab27b
|
UTSW |
18 |
70,129,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6264:Rab27b
|
UTSW |
18 |
70,122,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6603:Rab27b
|
UTSW |
18 |
70,118,375 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6754:Rab27b
|
UTSW |
18 |
70,129,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8926:Rab27b
|
UTSW |
18 |
70,129,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation