Incidental Mutation 'IGL03399:Rab27b'
| ID |
421364 |
| 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 # |
IGL03399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
70112202-70274676 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70120067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 128
(I128T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069749]
[ENSMUST00000117692]
[ENSMUST00000121693]
|
| AlphaFold |
Q99P58 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069749
AA Change: I128T
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
AA Change: I128T
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117692
AA Change: I128T
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
AA Change: I128T
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
184 |
4.81e-81 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121693
AA Change: I128T
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
AA Change: I128T
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
C |
T |
2: 150,479,798 (GRCm39) |
G303D |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,454,728 (GRCm39) |
Y515F |
probably damaging |
Het |
| Birc2 |
A |
T |
9: 7,821,088 (GRCm39) |
L412Q |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,901,368 (GRCm39) |
I1144T |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,073,208 (GRCm39) |
N770I |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,956 (GRCm39) |
N671D |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,108,426 (GRCm39) |
D823G |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,511,024 (GRCm39) |
D367G |
probably damaging |
Het |
| Exog |
T |
G |
9: 119,276,017 (GRCm39) |
S56A |
possibly damaging |
Het |
| Hap1 |
C |
A |
11: 100,245,093 (GRCm39) |
M39I |
possibly damaging |
Het |
| Hsd17b6 |
A |
T |
10: 127,829,625 (GRCm39) |
H192Q |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,716,638 (GRCm39) |
L622Q |
probably null |
Het |
| Kars1 |
G |
T |
8: 112,734,926 (GRCm39) |
A20E |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,431,771 (GRCm39) |
D197G |
probably damaging |
Het |
| Mapk9 |
T |
A |
11: 49,774,126 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,545,426 (GRCm39) |
D1367E |
probably damaging |
Het |
| Oaz1 |
G |
A |
10: 80,664,176 (GRCm39) |
S84N |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,296,314 (GRCm39) |
R507G |
possibly damaging |
Het |
| Or1j16 |
T |
G |
2: 36,530,894 (GRCm39) |
V281G |
possibly damaging |
Het |
| Or5p6 |
A |
G |
7: 107,630,789 (GRCm39) |
F254L |
probably benign |
Het |
| Or8g24 |
A |
T |
9: 38,989,533 (GRCm39) |
C169* |
probably null |
Het |
| Pclo |
T |
A |
5: 14,816,745 (GRCm39) |
D4540E |
unknown |
Het |
| Ppp6r1 |
A |
G |
7: 4,646,251 (GRCm39) |
V150A |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,658 (GRCm39) |
D544G |
probably benign |
Het |
| Scart2 |
G |
A |
7: 139,827,869 (GRCm39) |
E26K |
probably benign |
Het |
| Slc25a1 |
G |
T |
16: 17,743,684 (GRCm39) |
T195K |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,459,915 (GRCm39) |
N479D |
probably benign |
Het |
| Thsd7b |
G |
T |
1: 129,556,622 (GRCm39) |
W326L |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,797,042 (GRCm39) |
D60G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,615,625 (GRCm39) |
R14984H |
probably damaging |
Het |
| Uba2 |
G |
A |
7: 33,843,939 (GRCm39) |
T12I |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,578,220 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
A |
G |
19: 55,487,703 (GRCm39) |
K183R |
probably benign |
Het |
| Zkscan16 |
T |
C |
4: 58,956,915 (GRCm39) |
V399A |
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation