Incidental Mutation 'R6760:Tubb4a'
| ID |
531206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubb4a
|
| Ensembl Gene |
ENSMUSG00000062591 |
| Gene Name |
tubulin, beta 4A class IVA |
| Synonyms |
Tubb4, Tubb |
| MMRRC Submission |
044876-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6760 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
57387061-57394600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57387796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 410
(E410G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011623]
[ENSMUST00000071135]
|
| AlphaFold |
Q9D6F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011623
|
| SMART Domains |
Protein: ENSMUSP00000011623
Gene: ENSMUSG00000002668
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
9 |
89 |
1.18e-22 |
SMART |
|
DENN
|
90 |
293 |
3.95e-74 |
SMART |
|
low complexity region
|
312 |
318 |
N/A |
INTRINSIC |
|
dDENN
|
324 |
391 |
2.39e-18 |
SMART |
|
low complexity region
|
560 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
675 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071135
AA Change: E410G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071135
Gene: ENSMUSG00000062591
AA Change: E410G
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
4.45e-67 |
SMART |
|
Tubulin_C
|
246 |
383 |
5.5e-49 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2866 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
A |
4: 40,180,210 (GRCm39) |
C370* |
probably null |
Het |
| Akap6 |
C |
T |
12: 53,186,561 (GRCm39) |
S1325L |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,873,566 (GRCm39) |
D813G |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,792,776 (GRCm39) |
I451F |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,743,123 (GRCm39) |
D65G |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,141,947 (GRCm39) |
V3049M |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,232,356 (GRCm39) |
L869P |
probably damaging |
Het |
| Chrna9 |
T |
A |
5: 66,128,571 (GRCm39) |
Y260N |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,374,823 (GRCm39) |
P782L |
unknown |
Het |
| Coro2a |
A |
G |
4: 46,540,572 (GRCm39) |
M449T |
probably benign |
Het |
| Crispld1 |
T |
G |
1: 17,821,025 (GRCm39) |
V355G |
possibly damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Gpr37 |
T |
C |
6: 25,669,168 (GRCm39) |
I559V |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,758,364 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,306,451 (GRCm39) |
Y48C |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,248,212 (GRCm39) |
V367A |
probably damaging |
Het |
| Mrgpra1 |
G |
A |
7: 46,984,789 (GRCm39) |
R297W |
probably benign |
Het |
| Myh7b |
C |
A |
2: 155,462,038 (GRCm39) |
Y311* |
probably null |
Het |
| Nmd3 |
T |
A |
3: 69,654,170 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
T |
A |
2: 85,877,358 (GRCm39) |
C177* |
probably null |
Het |
| Pakap |
T |
C |
4: 57,856,026 (GRCm39) |
W493R |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,637 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,313,980 (GRCm39) |
T1144M |
possibly damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,901,904 (GRCm39) |
D35G |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Timeless |
A |
G |
10: 128,081,986 (GRCm39) |
K537R |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,771,222 (GRCm39) |
V1004E |
probably damaging |
Het |
| U2surp |
G |
A |
9: 95,375,764 (GRCm39) |
A143V |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,714 (GRCm39) |
H730L |
possibly damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,484,229 (GRCm39) |
T657I |
probably damaging |
Het |
| Ybey |
A |
T |
10: 76,304,033 (GRCm39) |
N56K |
probably benign |
Het |
|
| Other mutations in Tubb4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00956:Tubb4a
|
APN |
17 |
57,393,072 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02343:Tubb4a
|
APN |
17 |
57,388,538 (GRCm39) |
missense |
probably benign |
|
|
IGL02562:Tubb4a
|
APN |
17 |
57,388,163 (GRCm39) |
nonsense |
probably null |
|
|
G1citation:Tubb4a
|
UTSW |
17 |
57,387,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P0022:Tubb4a
|
UTSW |
17 |
57,388,538 (GRCm39) |
missense |
probably benign |
|
|
R0043:Tubb4a
|
UTSW |
17 |
57,388,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Tubb4a
|
UTSW |
17 |
57,388,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Tubb4a
|
UTSW |
17 |
57,388,182 (GRCm39) |
nonsense |
probably null |
|
|
R0348:Tubb4a
|
UTSW |
17 |
57,387,770 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2440:Tubb4a
|
UTSW |
17 |
57,393,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2762:Tubb4a
|
UTSW |
17 |
57,387,974 (GRCm39) |
missense |
probably benign |
|
|
R3927:Tubb4a
|
UTSW |
17 |
57,387,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6284:Tubb4a
|
UTSW |
17 |
57,387,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Tubb4a
|
UTSW |
17 |
57,388,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6822:Tubb4a
|
UTSW |
17 |
57,387,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7381:Tubb4a
|
UTSW |
17 |
57,387,698 (GRCm39) |
missense |
unknown |
|
|
R7507:Tubb4a
|
UTSW |
17 |
57,388,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7892:Tubb4a
|
UTSW |
17 |
57,387,880 (GRCm39) |
nonsense |
probably null |
|
|
R8991:Tubb4a
|
UTSW |
17 |
57,388,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9108:Tubb4a
|
UTSW |
17 |
57,388,232 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9165:Tubb4a
|
UTSW |
17 |
57,387,734 (GRCm39) |
missense |
unknown |
|
|
R9215:Tubb4a
|
UTSW |
17 |
57,387,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9245:Tubb4a
|
UTSW |
17 |
57,387,959 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9251:Tubb4a
|
UTSW |
17 |
57,387,778 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9432:Tubb4a
|
UTSW |
17 |
57,388,034 (GRCm39) |
missense |
probably benign |
|
|
R9565:Tubb4a
|
UTSW |
17 |
57,388,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF013:Tubb4a
|
UTSW |
17 |
57,394,464 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCATGGTGAAGATGCTCATG -3'
(R):5'- AGCCGTATGTGACATCCCAC -3'
Sequencing Primer
(F):5'- AAGATGCTCATGGGGTCCTAG -3'
(R):5'- TATGTGACATCCCACCCCGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation