Incidental Mutation 'IGL01683:Tubb2a'
| ID |
103872 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tubb2a
|
| Ensembl Gene |
ENSMUSG00000058672 |
| Gene Name |
tubulin, beta 2A class IIA |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
34258261-34261991 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 34260530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040656]
[ENSMUST00000056427]
|
| AlphaFold |
Q7TMM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040656
|
| SMART Domains |
Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase_4
|
57 |
208 |
1.1e-10 |
PFAM |
|
Pfam:Abhydrolase_1
|
61 |
205 |
2.8e-22 |
PFAM |
|
Pfam:Abhydrolase_5
|
62 |
273 |
3.9e-20 |
PFAM |
|
Pfam:Abhydrolase_6
|
63 |
285 |
6e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000056427
|
| SMART Domains |
Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
1.64e-65 |
SMART |
|
Tubulin_C
|
246 |
383 |
2.39e-49 |
SMART |
|
low complexity region
|
431 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223251
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,214,288 (GRCm39) |
L188Q |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,801,091 (GRCm39) |
I446F |
possibly damaging |
Het |
| Ankrd34c |
T |
C |
9: 89,611,850 (GRCm39) |
T164A |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,992,095 (GRCm39) |
R1219L |
possibly damaging |
Het |
| Cdk2ap1 |
C |
T |
5: 124,488,242 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,679,733 (GRCm39) |
F409L |
probably benign |
Het |
| Clcc1 |
G |
A |
3: 108,584,112 (GRCm39) |
A499T |
probably benign |
Het |
| Foxm1 |
T |
G |
6: 128,350,451 (GRCm39) |
I584S |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,415,963 (GRCm39) |
I199T |
probably damaging |
Het |
| Gjb6 |
C |
A |
14: 57,361,815 (GRCm39) |
A149S |
probably benign |
Het |
| H2-M2 |
A |
T |
17: 37,792,406 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,501,069 (GRCm39) |
|
probably benign |
Het |
| Os9 |
A |
G |
10: 126,935,972 (GRCm39) |
Y258H |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,318,862 (GRCm39) |
F337S |
possibly damaging |
Het |
| Pla2g4a |
T |
G |
1: 149,733,405 (GRCm39) |
Y448S |
probably benign |
Het |
| Sgk3 |
T |
A |
1: 9,952,091 (GRCm39) |
V239D |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,747,148 (GRCm39) |
Y903H |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,534,611 (GRCm39) |
H1752Q |
possibly damaging |
Het |
| Tns1 |
C |
T |
1: 73,992,428 (GRCm39) |
R750Q |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,355,036 (GRCm39) |
N1245S |
probably benign |
Het |
|
| Other mutations in Tubb2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0233:Tubb2a
|
UTSW |
13 |
34,259,325 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0233:Tubb2a
|
UTSW |
13 |
34,259,325 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0345:Tubb2a
|
UTSW |
13 |
34,260,620 (GRCm39) |
missense |
probably benign |
|
|
R2033:Tubb2a
|
UTSW |
13 |
34,259,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Tubb2a
|
UTSW |
13 |
34,259,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Tubb2a
|
UTSW |
13 |
34,259,294 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3837:Tubb2a
|
UTSW |
13 |
34,259,294 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3839:Tubb2a
|
UTSW |
13 |
34,259,294 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4879:Tubb2a
|
UTSW |
13 |
34,258,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4936:Tubb2a
|
UTSW |
13 |
34,259,240 (GRCm39) |
nonsense |
probably null |
|
|
R5537:Tubb2a
|
UTSW |
13 |
34,259,434 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5889:Tubb2a
|
UTSW |
13 |
34,259,451 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6102:Tubb2a
|
UTSW |
13 |
34,259,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6475:Tubb2a
|
UTSW |
13 |
34,259,442 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7206:Tubb2a
|
UTSW |
13 |
34,259,505 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7254:Tubb2a
|
UTSW |
13 |
34,258,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Tubb2a
|
UTSW |
13 |
34,259,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7631:Tubb2a
|
UTSW |
13 |
34,259,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7734:Tubb2a
|
UTSW |
13 |
34,258,776 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7815:Tubb2a
|
UTSW |
13 |
34,258,962 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7850:Tubb2a
|
UTSW |
13 |
34,258,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Tubb2a
|
UTSW |
13 |
34,258,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Tubb2a
|
UTSW |
13 |
34,260,628 (GRCm39) |
missense |
probably benign |
|
|
R9270:Tubb2a
|
UTSW |
13 |
34,258,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Tubb2a
|
UTSW |
13 |
34,260,607 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation