Incidental Mutation 'IGL01777:Rab3b'
| ID |
154120 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab3b
|
| Ensembl Gene |
ENSMUSG00000003411 |
| Gene Name |
RAB3B, member RAS oncogene family |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01777
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108736267-108800521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108786607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 119
(Q119L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003502]
[ENSMUST00000106650]
[ENSMUST00000106651]
|
| AlphaFold |
Q9CZT8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003502
AA Change: Q119L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003502
Gene: ENSMUSG00000003411
AA Change: Q119L
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
23 |
186 |
1.86e-96 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106650
AA Change: Q119L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102261
Gene: ENSMUSG00000003411
AA Change: Q119L
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
23 |
186 |
1.86e-96 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106651
AA Change: Q119L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102262
Gene: ENSMUSG00000003411
AA Change: Q119L
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
23 |
195 |
4.88e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119330
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no apparent decrease in weight or fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
T |
C |
3: 59,932,205 (GRCm39) |
V240A |
possibly damaging |
Het |
| Aftph |
A |
T |
11: 20,676,554 (GRCm39) |
C352S |
possibly damaging |
Het |
| Cand2 |
T |
C |
6: 115,769,818 (GRCm39) |
V876A |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,616,356 (GRCm39) |
I125V |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,713,141 (GRCm39) |
M1858L |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,561,594 (GRCm39) |
N2134K |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,067,406 (GRCm39) |
I96V |
probably benign |
Het |
| Dst |
A |
G |
1: 34,238,478 (GRCm39) |
T3727A |
probably benign |
Het |
| Elavl4 |
T |
A |
4: 110,063,858 (GRCm39) |
|
probably null |
Het |
| Eno2 |
C |
T |
6: 124,743,600 (GRCm39) |
G113D |
probably damaging |
Het |
| Esf1 |
A |
C |
2: 139,999,092 (GRCm39) |
|
probably null |
Het |
| Frmd4b |
T |
C |
6: 97,272,905 (GRCm39) |
D783G |
probably benign |
Het |
| Grin2a |
C |
T |
16: 9,461,994 (GRCm39) |
V713I |
probably benign |
Het |
| Impa1 |
C |
T |
3: 10,388,008 (GRCm39) |
G138D |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,523,736 (GRCm39) |
T1079A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,760,302 (GRCm39) |
S549P |
probably damaging |
Het |
| Magoh |
C |
A |
4: 107,740,373 (GRCm39) |
Q86K |
probably benign |
Het |
| Moxd1 |
C |
A |
10: 24,128,494 (GRCm39) |
T182K |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,709 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pramel25 |
T |
G |
4: 143,521,688 (GRCm39) |
C435G |
possibly damaging |
Het |
| Snap47 |
T |
A |
11: 59,312,477 (GRCm39) |
|
probably null |
Het |
| Taar3 |
A |
G |
10: 23,825,903 (GRCm39) |
R150G |
probably benign |
Het |
| Tas2r102 |
C |
T |
6: 132,739,815 (GRCm39) |
T241I |
probably damaging |
Het |
| Tas2r114 |
C |
T |
6: 131,666,664 (GRCm39) |
W121* |
probably null |
Het |
| Trak1 |
G |
A |
9: 121,260,626 (GRCm39) |
|
probably null |
Het |
| Ubn1 |
T |
C |
16: 4,890,013 (GRCm39) |
V426A |
possibly damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,204 (GRCm39) |
L7P |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,272 (GRCm39) |
I314V |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,695,696 (GRCm39) |
S149A |
probably benign |
Het |
|
| Other mutations in Rab3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Rab3b
|
APN |
4 |
108,797,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01612:Rab3b
|
APN |
4 |
108,781,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01636:Rab3b
|
APN |
4 |
108,797,916 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0601:Rab3b
|
UTSW |
4 |
108,747,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Rab3b
|
UTSW |
4 |
108,786,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2302:Rab3b
|
UTSW |
4 |
108,786,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2312:Rab3b
|
UTSW |
4 |
108,747,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Rab3b
|
UTSW |
4 |
108,781,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8893:Rab3b
|
UTSW |
4 |
108,797,925 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9145:Rab3b
|
UTSW |
4 |
108,797,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9572:Rab3b
|
UTSW |
4 |
108,786,725 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0024:Rab3b
|
UTSW |
4 |
108,747,505 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
| Posted On |
2014-02-04 |
Incidental Mutation