Incidental Mutation 'R2427:Rab27b'
ID |
250291 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rab27b
|
Ensembl Gene |
ENSMUSG00000024511 |
Gene Name |
RAB27B, member RAS oncogene family |
Synonyms |
B130064M09Rik, 2310021G14Rik |
MMRRC Submission |
040389-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2427 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
70112202-70274676 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70129205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 30
(T30A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069749]
[ENSMUST00000117692]
[ENSMUST00000121693]
|
AlphaFold |
Q99P58 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069749
AA Change: T30A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068349 Gene: ENSMUSG00000024511 AA Change: T30A
Domain | Start | End | E-Value | Type |
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117692
AA Change: T30A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112807 Gene: ENSMUSG00000024511 AA Change: T30A
Domain | Start | End | E-Value | Type |
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121693
AA Change: T30A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114094 Gene: ENSMUSG00000024511 AA Change: T30A
Domain | Start | End | E-Value | Type |
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
Meta Mutation Damage Score |
0.1599 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (37/37) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably damaging |
Het |
|
Other mutations in Rab27b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00423:Rab27b
|
APN |
18 |
70,129,138 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGATAGCGTCACTCAACG -3'
(R):5'- ACACTAGAGGCTTTTGAGGCTG -3'
Sequencing Primer
(F):5'- GAGATAGCGTCACTCAACGTTTTTC -3'
(R):5'- CCATACTTCTTCTACGCAG -3'
|
Posted On |
2014-11-12 |