Incidental Mutation 'R5380:Rab27b'
ID |
425826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rab27b
|
Ensembl Gene |
ENSMUSG00000024511 |
Gene Name |
RAB27B, member RAS oncogene family |
Synonyms |
B130064M09Rik, 2310021G14Rik |
MMRRC Submission |
042955-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5380 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
70112202-70274676 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70129226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 23
(T23A)
|
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: T23A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000068349 Gene: ENSMUSG00000024511 AA Change: T23A
Domain | Start | End | E-Value | Type |
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117692
AA Change: T23A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112807 Gene: ENSMUSG00000024511 AA Change: T23A
Domain | Start | End | E-Value | Type |
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121693
AA Change: T23A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114094 Gene: ENSMUSG00000024511 AA Change: T23A
Domain | Start | End | E-Value | Type |
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
A |
T |
4: 40,177,848 (GRCm39) |
I290F |
probably damaging |
Het |
Cfap107 |
A |
T |
4: 144,150,372 (GRCm39) |
W70R |
probably damaging |
Het |
Cmip |
T |
A |
8: 118,149,629 (GRCm39) |
C155S |
probably damaging |
Het |
Cyba |
G |
T |
8: 123,153,718 (GRCm39) |
P82T |
possibly damaging |
Het |
Dgkb |
C |
T |
12: 38,177,299 (GRCm39) |
R202W |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,014,598 (GRCm39) |
E3611G |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,256,351 (GRCm39) |
S1885C |
probably benign |
Het |
Dop1b |
A |
G |
16: 93,560,298 (GRCm39) |
E748G |
probably damaging |
Het |
Dusp18 |
C |
A |
11: 3,847,037 (GRCm39) |
P9Q |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,943,013 (GRCm39) |
D635E |
probably damaging |
Het |
Fbxo25 |
T |
A |
8: 13,971,886 (GRCm39) |
S79R |
probably benign |
Het |
Fgfr4 |
T |
A |
13: 55,315,230 (GRCm39) |
L675Q |
probably damaging |
Het |
Foxo1 |
T |
A |
3: 52,176,446 (GRCm39) |
L75Q |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,805,742 (GRCm39) |
V687A |
possibly damaging |
Het |
Gga3 |
G |
T |
11: 115,479,257 (GRCm39) |
P354Q |
probably damaging |
Het |
Gm11077 |
A |
T |
6: 140,675,048 (GRCm39) |
K13N |
unknown |
Het |
Haus4 |
T |
A |
14: 54,787,232 (GRCm39) |
K75M |
probably damaging |
Het |
Igfn1 |
G |
A |
1: 135,893,825 (GRCm39) |
T2085M |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Lims1 |
A |
T |
10: 58,252,492 (GRCm39) |
I321L |
probably damaging |
Het |
Ms4a6b |
A |
T |
19: 11,499,044 (GRCm39) |
I53F |
probably damaging |
Het |
Msl3l2 |
A |
G |
10: 55,991,668 (GRCm39) |
D131G |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,370,035 (GRCm39) |
V189A |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pfkl |
T |
G |
10: 77,833,423 (GRCm39) |
I260L |
possibly damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,146,171 (GRCm39) |
Y128H |
probably benign |
Het |
Prpf6 |
T |
A |
2: 181,250,059 (GRCm39) |
L73Q |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,321,316 (GRCm39) |
V658A |
probably damaging |
Het |
Rabif |
A |
G |
1: 134,433,980 (GRCm39) |
E98G |
probably damaging |
Het |
Ror2 |
T |
C |
13: 53,271,185 (GRCm39) |
D378G |
possibly damaging |
Het |
Spata21 |
A |
G |
4: 140,834,496 (GRCm39) |
T494A |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,344,771 (GRCm39) |
K919E |
probably benign |
Het |
Tnrc6b |
C |
G |
15: 80,763,766 (GRCm39) |
P423A |
possibly damaging |
Het |
Tomm40 |
A |
G |
7: 19,435,675 (GRCm39) |
F352L |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
Tspo2 |
A |
G |
17: 48,755,780 (GRCm39) |
F93L |
probably benign |
Het |
V1ra8 |
T |
A |
6: 90,180,004 (GRCm39) |
I69K |
probably damaging |
Het |
Zan |
T |
C |
5: 137,456,102 (GRCm39) |
T1353A |
unknown |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
Zfp281 |
A |
G |
1: 136,553,676 (GRCm39) |
K218R |
possibly 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 |
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 |
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'- GGTTCATGTGATAAAACAACCCAGAC -3'
(R):5'- ATGCATAGAGCTGCTTTGGC -3'
Sequencing Primer
(F):5'- CCCGAAAATCTATTCCCACT -3'
(R):5'- CATTTTGGCACACTAGAGGC -3'
|
Posted On |
2016-08-04 |