Incidental Mutation 'R5537:Tubb2a'
ID |
434893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubb2a
|
Ensembl Gene |
ENSMUSG00000058672 |
Gene Name |
tubulin, beta 2A class IIA |
Synonyms |
|
MMRRC Submission |
043095-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5537 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
34258261-34261991 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34259434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 119
(V119L)
|
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 benign
Transcript: ENSMUST00000056427
AA Change: V119L
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000060246 Gene: ENSMUSG00000058672 AA Change: V119L
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 9,005,485 (GRCm39) |
I1123F |
probably damaging |
Het |
Acsl3 |
C |
T |
1: 78,684,073 (GRCm39) |
R702C |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,604,892 (GRCm39) |
E1031G |
probably damaging |
Het |
Ankle2 |
T |
C |
5: 110,397,361 (GRCm39) |
S536P |
probably damaging |
Het |
Arfgef2 |
G |
T |
2: 166,698,513 (GRCm39) |
|
probably null |
Het |
Bahd1 |
G |
T |
2: 118,746,461 (GRCm39) |
D27Y |
probably damaging |
Het |
Brinp2 |
C |
T |
1: 158,082,583 (GRCm39) |
V246I |
probably damaging |
Het |
Ccdc187 |
C |
A |
2: 26,166,237 (GRCm39) |
A731S |
probably benign |
Het |
Cdc37l1 |
T |
A |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
Cdk5r1 |
A |
G |
11: 80,368,825 (GRCm39) |
Y164C |
probably damaging |
Het |
Clrn3 |
A |
T |
7: 135,115,791 (GRCm39) |
H186Q |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,606,872 (GRCm39) |
T517I |
probably damaging |
Het |
Crhr1 |
T |
A |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
Dst |
C |
T |
1: 34,228,959 (GRCm39) |
S2362L |
probably benign |
Het |
Eapp |
G |
A |
12: 54,738,844 (GRCm39) |
T98I |
probably benign |
Het |
Iqsec3 |
T |
C |
6: 121,389,603 (GRCm39) |
|
probably benign |
Het |
Kctd12 |
A |
G |
14: 103,219,713 (GRCm39) |
V55A |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,292,594 (GRCm39) |
D432G |
probably benign |
Het |
Mrgprx1 |
T |
A |
7: 47,670,898 (GRCm39) |
H283L |
probably benign |
Het |
Nlrp4e |
T |
C |
7: 23,019,914 (GRCm39) |
F134L |
probably benign |
Het |
Or1e34 |
T |
C |
11: 73,778,523 (GRCm39) |
K225R |
probably benign |
Het |
Or4f14b |
A |
T |
2: 111,775,393 (GRCm39) |
M136K |
probably damaging |
Het |
Or5m5 |
T |
A |
2: 85,814,570 (GRCm39) |
Y129N |
possibly damaging |
Het |
Or8b43 |
T |
A |
9: 38,360,538 (GRCm39) |
Y123* |
probably null |
Het |
Pfkp |
C |
A |
13: 6,669,278 (GRCm39) |
W235L |
probably damaging |
Het |
Prom1 |
C |
T |
5: 44,158,118 (GRCm39) |
|
probably null |
Het |
Psma5-ps |
A |
G |
10: 85,149,913 (GRCm39) |
|
noncoding transcript |
Het |
Rab14 |
A |
T |
2: 35,082,649 (GRCm39) |
F12L |
possibly damaging |
Het |
Rnf40 |
T |
A |
7: 127,195,261 (GRCm39) |
I429N |
probably benign |
Het |
S100pbp |
G |
A |
4: 129,075,981 (GRCm39) |
P115S |
probably benign |
Het |
Scarf1 |
G |
A |
11: 75,416,357 (GRCm39) |
A600T |
probably damaging |
Het |
Slc6a5 |
T |
C |
7: 49,609,059 (GRCm39) |
F755L |
probably benign |
Het |
Slc7a2 |
A |
T |
8: 41,367,023 (GRCm39) |
I510F |
probably benign |
Het |
Spag16 |
T |
C |
1: 69,866,175 (GRCm39) |
S5P |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,061,641 (GRCm39) |
Y631C |
probably damaging |
Het |
Tmem182 |
A |
T |
1: 40,894,069 (GRCm39) |
I195F |
probably benign |
Het |
Tox |
A |
G |
4: 6,697,510 (GRCm39) |
L431P |
probably damaging |
Het |
Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
Tsg101 |
T |
C |
7: 46,540,876 (GRCm39) |
K294E |
probably benign |
Het |
Vps37d |
C |
T |
5: 135,103,256 (GRCm39) |
E129K |
possibly damaging |
Het |
Zfp974 |
TAATCTGTCTCCAAATCTG |
TAATCTG |
7: 27,611,671 (GRCm39) |
|
probably benign |
Het |
Zpld1 |
A |
G |
16: 55,054,003 (GRCm39) |
V263A |
possibly damaging |
Het |
|
Other mutations in Tubb2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01683:Tubb2a
|
APN |
13 |
34,260,530 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGTGTTCTCTACCAGCTGG -3'
(R):5'- ACTGAATGTTCTCTAAGGCCAC -3'
Sequencing Primer
(F):5'- CCACAGTATCAGAGACCTTGGGTG -3'
(R):5'- GAATGTTCTCTAAGGCCACTTCTAC -3'
|
Posted On |
2016-10-24 |