Incidental Mutation 'IGL00499:Tubb2b'
| ID |
5946 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tubb2b
|
| Ensembl Gene |
ENSMUSG00000045136 |
| Gene Name |
tubulin, beta 2B class IIB |
| Synonyms |
brdp, 2410129E14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.801)
|
| Stock # |
IGL00499
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
34310991-34314337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34312329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 155
(I155V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075774]
|
| AlphaFold |
Q9CWF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075774
AA Change: I155V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075178
Gene: ENSMUSG00000045136
AA Change: I155V
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
2.93e-67 |
SMART |
|
Tubulin_C
|
246 |
383 |
2.39e-49 |
SMART |
|
low complexity region
|
431 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220744
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit mild hydroencephaly, telencephalon dysmorphology, a small olfactory bulb and prenatal lethality. Mice heterozygous for this mutation exhibit hyperactivity, reduced fertility and abnormal cortex. [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 |
|---|
| 4930533K18Rik |
C |
A |
10: 70,711,138 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb9 |
T |
C |
5: 124,215,301 (GRCm39) |
D480G |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,896 (GRCm39) |
N531K |
possibly damaging |
Het |
| AW554918 |
A |
T |
18: 25,553,122 (GRCm39) |
K542* |
probably null |
Het |
| Blk |
A |
G |
14: 63,618,169 (GRCm39) |
F246L |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,313,172 (GRCm39) |
E292G |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,449,341 (GRCm39) |
T261I |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,379,189 (GRCm39) |
Q57L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,484,416 (GRCm39) |
H688Q |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,310,579 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,329,504 (GRCm39) |
K6858R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,168,700 (GRCm39) |
V371E |
possibly damaging |
Het |
| Eps8 |
C |
A |
6: 137,499,886 (GRCm39) |
E181* |
probably null |
Het |
| Flt4 |
T |
C |
11: 49,526,088 (GRCm39) |
I796T |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,921,788 (GRCm39) |
N597S |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,633,339 (GRCm39) |
M1011K |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,699,244 (GRCm39) |
M112T |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,032,756 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
G |
17: 67,939,034 (GRCm39) |
F182S |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,076 (GRCm38) |
M231K |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,870,407 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
A |
T |
3: 66,989,933 (GRCm39) |
|
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,296,810 (GRCm39) |
|
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,380,701 (GRCm39) |
Y8C |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,441,538 (GRCm39) |
Y196H |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,741,589 (GRCm39) |
D96G |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,357 (GRCm39) |
D945E |
probably damaging |
Het |
| Usp13 |
T |
A |
3: 32,935,560 (GRCm39) |
Y328N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,673 (GRCm39) |
D323N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,672 (GRCm39) |
M322I |
probably damaging |
Het |
| Zfp341 |
C |
T |
2: 154,476,151 (GRCm39) |
T446I |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,877 (GRCm39) |
L412P |
probably damaging |
Het |
| Zfp521 |
T |
A |
18: 14,072,177 (GRCm39) |
D21V |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,584,233 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tubb2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00575:Tubb2b
|
APN |
13 |
34,313,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1246:Tubb2b
|
UTSW |
13 |
34,312,130 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2055:Tubb2b
|
UTSW |
13 |
34,311,708 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2071:Tubb2b
|
UTSW |
13 |
34,312,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Tubb2b
|
UTSW |
13 |
34,314,198 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2402:Tubb2b
|
UTSW |
13 |
34,312,209 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4905:Tubb2b
|
UTSW |
13 |
34,312,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Tubb2b
|
UTSW |
13 |
34,312,168 (GRCm39) |
nonsense |
probably null |
|
|
R5635:Tubb2b
|
UTSW |
13 |
34,312,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Tubb2b
|
UTSW |
13 |
34,311,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Tubb2b
|
UTSW |
13 |
34,311,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6994:Tubb2b
|
UTSW |
13 |
34,311,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7666:Tubb2b
|
UTSW |
13 |
34,312,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8936:Tubb2b
|
UTSW |
13 |
34,312,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Tubb2b
|
UTSW |
13 |
34,311,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Tubb2b
|
UTSW |
13 |
34,311,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9787:Tubb2b
|
UTSW |
13 |
34,312,409 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Posted On |
2012-04-20 |
Incidental Mutation