Incidental Mutation 'R2302:Rab3b'
| ID |
244451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab3b
|
| Ensembl Gene |
ENSMUSG00000003411 |
| Gene Name |
RAB3B, member RAS oncogene family |
| Synonyms |
|
| MMRRC Submission |
040301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108736267-108800521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108786640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 130
(V130A)
|
| 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: V130A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003502
Gene: ENSMUSG00000003411
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
23 |
186 |
1.86e-96 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106650
AA Change: V130A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102261
Gene: ENSMUSG00000003411
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
23 |
186 |
1.86e-96 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106651
AA Change: V130A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102262
Gene: ENSMUSG00000003411
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
23 |
195 |
4.88e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119330
|
| Meta Mutation Damage Score |
0.2213 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat2 |
A |
T |
2: 26,494,207 (GRCm39) |
W6R |
possibly damaging |
Het |
| Ahrr |
C |
A |
13: 74,425,780 (GRCm39) |
V72F |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,609,415 (GRCm39) |
C1369Y |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,271,701 (GRCm39) |
P538Q |
probably damaging |
Het |
| Cnn2 |
C |
G |
10: 79,827,233 (GRCm39) |
R35G |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 48,177,447 (GRCm39) |
A364S |
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,391,629 (GRCm39) |
T73A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,241,958 (GRCm39) |
N200D |
possibly damaging |
Het |
| Hyls1 |
T |
C |
9: 35,475,365 (GRCm39) |
E3G |
possibly damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,485,393 (GRCm39) |
L464P |
probably damaging |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lhfpl2 |
T |
C |
13: 94,311,054 (GRCm39) |
V108A |
probably benign |
Het |
| Lrrc7 |
C |
G |
3: 157,840,881 (GRCm39) |
G1386R |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,849,640 (GRCm39) |
V231A |
possibly damaging |
Het |
| Mup4 |
T |
A |
4: 59,960,702 (GRCm39) |
|
probably null |
Het |
| Myh8 |
A |
T |
11: 67,177,065 (GRCm39) |
R406W |
probably damaging |
Het |
| Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,133,671 (GRCm39) |
G216S |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,377,795 (GRCm39) |
C169S |
probably damaging |
Het |
| Prokr2 |
A |
G |
2: 132,223,104 (GRCm39) |
I146T |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,931,015 (GRCm39) |
I672N |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,108,089 (GRCm39) |
T1546A |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,399 (GRCm39) |
E340V |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,919,756 (GRCm39) |
|
noncoding transcript |
Het |
| Svopl |
A |
T |
6: 38,018,101 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
A |
G |
5: 119,979,924 (GRCm39) |
K157E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,724,696 (GRCm39) |
C6333S |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,702,179 (GRCm39) |
K158E |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,482,057 (GRCm39) |
N535S |
probably damaging |
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 |
|
IGL01777:Rab3b
|
APN |
4 |
108,786,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGGGCTCTGATTCTAGGATGG -3'
(R):5'- GTCACAAATAAAACCTCACTCTTAGGG -3'
Sequencing Primer
(F):5'- GTGGTAGCCATGTCATGCC -3'
(R):5'- CTATAGAGTGAGTTCCAGGTCAGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation