Incidental Mutation 'R6411:Rab8b'
ID |
514604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rab8b
|
Ensembl Gene |
ENSMUSG00000036943 |
Gene Name |
RAB8B, member RAS oncogene family |
Synonyms |
Rab8b |
MMRRC Submission |
044384-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6411 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
66750946-66826969 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 66761948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041139]
|
AlphaFold |
P61028 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041139
|
SMART Domains |
Protein: ENSMUSP00000041857 Gene: ENSMUSG00000036943
Domain | Start | End | E-Value | Type |
RAB
|
9 |
172 |
3.04e-110 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit no overt abnormalities and normal survival. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Capn7 |
A |
G |
14: 31,062,053 (GRCm39) |
E55G |
probably benign |
Het |
Carmil2 |
G |
T |
8: 106,423,658 (GRCm39) |
D1211Y |
probably damaging |
Het |
Carns1 |
G |
T |
19: 4,216,463 (GRCm39) |
A573E |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,779,181 (GRCm39) |
R555G |
probably benign |
Het |
Guf1 |
T |
C |
5: 69,717,854 (GRCm39) |
I204T |
possibly damaging |
Het |
Hgsnat |
C |
T |
8: 26,436,303 (GRCm39) |
V584M |
possibly damaging |
Het |
Izumo2 |
A |
T |
7: 44,369,184 (GRCm39) |
Q186L |
probably benign |
Het |
Lmtk2 |
A |
T |
5: 144,111,404 (GRCm39) |
Q708L |
probably damaging |
Het |
Mitf |
T |
C |
6: 97,987,433 (GRCm39) |
|
probably null |
Het |
Myo9b |
T |
A |
8: 71,775,599 (GRCm39) |
Y340* |
probably null |
Het |
Naip5 |
A |
G |
13: 100,359,913 (GRCm39) |
I441T |
probably benign |
Het |
Nbea |
A |
C |
3: 55,712,778 (GRCm39) |
S2100A |
probably benign |
Het |
Or10ag60 |
G |
T |
2: 87,438,317 (GRCm39) |
C195F |
probably damaging |
Het |
Or2t47 |
T |
A |
11: 58,442,483 (GRCm39) |
Y194F |
probably damaging |
Het |
Or5a3 |
G |
A |
19: 12,400,350 (GRCm39) |
V226I |
probably benign |
Het |
Or6b1 |
A |
G |
6: 42,815,654 (GRCm39) |
T280A |
possibly damaging |
Het |
Oxnad1 |
C |
G |
14: 31,813,609 (GRCm39) |
H3Q |
possibly damaging |
Het |
Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
Sele |
G |
A |
1: 163,876,984 (GRCm39) |
V87I |
probably benign |
Het |
Slc8b1 |
T |
A |
5: 120,659,191 (GRCm39) |
W212R |
probably damaging |
Het |
Vmn1r88 |
A |
T |
7: 12,911,970 (GRCm39) |
I109F |
probably damaging |
Het |
Zfp758 |
A |
T |
17: 22,594,075 (GRCm39) |
D155V |
possibly damaging |
Het |
|
Other mutations in Rab8b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00917:Rab8b
|
APN |
9 |
66,761,969 (GRCm39) |
nonsense |
probably null |
|
IGL00966:Rab8b
|
APN |
9 |
66,760,274 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02145:Rab8b
|
APN |
9 |
66,755,000 (GRCm39) |
utr 3 prime |
probably benign |
|
R1178:Rab8b
|
UTSW |
9 |
66,760,249 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3836:Rab8b
|
UTSW |
9 |
66,755,078 (GRCm39) |
missense |
probably benign |
|
R8907:Rab8b
|
UTSW |
9 |
66,826,807 (GRCm39) |
missense |
probably benign |
0.14 |
R9199:Rab8b
|
UTSW |
9 |
66,758,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R9435:Rab8b
|
UTSW |
9 |
66,755,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Rab8b
|
UTSW |
9 |
66,826,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTTCACGGGCTATAGAAGG -3'
(R):5'- GTGACATGAGAGTGGAAGTCATTTG -3'
Sequencing Primer
(F):5'- GCTATAGAAGGCAGTCCACCTG -3'
(R):5'- GGAAGTCATTTGTTTTTGCCTCAC -3'
|
Posted On |
2018-05-04 |