Incidental Mutation 'R2412:Tubb1'
| ID |
250023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubb1
|
| Ensembl Gene |
ENSMUSG00000016255 |
| Gene Name |
tubulin, beta 1 class VI |
| Synonyms |
2810484G07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R2412 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
174292488-174299675 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 174298903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 195
(N195S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016396]
[ENSMUST00000016399]
|
| AlphaFold |
A2AQ07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016396
|
| SMART Domains |
Protein: ENSMUSP00000016396
Gene: ENSMUSG00000016252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_Eps
|
2 |
51 |
7.8e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016399
AA Change: N195S
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: N195S
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
3.42e-68 |
SMART |
|
Tubulin_C
|
246 |
383 |
1.84e-41 |
SMART |
|
low complexity region
|
433 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149191
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| 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 protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
T |
3: 36,127,740 (GRCm39) |
Q114L |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 89,849,630 (GRCm39) |
Y597H |
probably damaging |
Het |
| Bmi1 |
A |
G |
2: 18,688,525 (GRCm39) |
H172R |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,716,389 (GRCm39) |
Y400* |
probably null |
Het |
| Dennd5b |
T |
C |
6: 148,906,736 (GRCm39) |
T1062A |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,144,246 (GRCm39) |
D1065G |
probably benign |
Het |
| Ephb1 |
G |
A |
9: 101,879,015 (GRCm39) |
R492C |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,011,221 (GRCm39) |
H2107L |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,306,526 (GRCm39) |
V23A |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,235,007 (GRCm39) |
N851D |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,796,673 (GRCm39) |
T322A |
probably benign |
Het |
| Ntpcr |
T |
C |
8: 126,472,144 (GRCm39) |
V151A |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,178 (GRCm39) |
I114V |
probably benign |
Het |
| Or9g3 |
C |
A |
2: 85,590,024 (GRCm39) |
G232V |
probably damaging |
Het |
| Pramel51 |
A |
G |
12: 88,143,880 (GRCm39) |
V311A |
probably damaging |
Het |
| Rps6ka4 |
A |
T |
19: 6,807,309 (GRCm39) |
*774K |
probably null |
Het |
| Slc12a5 |
T |
C |
2: 164,818,382 (GRCm39) |
|
probably null |
Het |
| Tmem219 |
T |
C |
7: 126,495,939 (GRCm39) |
S37G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,412,425 (GRCm39) |
|
probably null |
Het |
| Zfp85 |
T |
C |
13: 67,897,765 (GRCm39) |
I102M |
probably damaging |
Het |
|
| Other mutations in Tubb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01877:Tubb1
|
APN |
2 |
174,298,691 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02534:Tubb1
|
APN |
2 |
174,297,462 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02535:Tubb1
|
APN |
2 |
174,299,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03404:Tubb1
|
APN |
2 |
174,299,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Tubb1
|
UTSW |
2 |
174,299,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0666:Tubb1
|
UTSW |
2 |
174,299,548 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0939:Tubb1
|
UTSW |
2 |
174,297,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Tubb1
|
UTSW |
2 |
174,299,532 (GRCm39) |
missense |
probably benign |
|
|
R1317:Tubb1
|
UTSW |
2 |
174,298,689 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1458:Tubb1
|
UTSW |
2 |
174,292,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1574:Tubb1
|
UTSW |
2 |
174,299,215 (GRCm39) |
missense |
probably benign |
|
|
R1574:Tubb1
|
UTSW |
2 |
174,299,215 (GRCm39) |
missense |
probably benign |
|
|
R1658:Tubb1
|
UTSW |
2 |
174,298,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Tubb1
|
UTSW |
2 |
174,298,689 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1761:Tubb1
|
UTSW |
2 |
174,298,689 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1869:Tubb1
|
UTSW |
2 |
174,298,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1969:Tubb1
|
UTSW |
2 |
174,297,484 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4249:Tubb1
|
UTSW |
2 |
174,297,526 (GRCm39) |
missense |
probably null |
0.93 |
|
R4415:Tubb1
|
UTSW |
2 |
174,299,466 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5154:Tubb1
|
UTSW |
2 |
174,298,657 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5276:Tubb1
|
UTSW |
2 |
174,299,217 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5730:Tubb1
|
UTSW |
2 |
174,299,562 (GRCm39) |
missense |
probably benign |
|
|
R6008:Tubb1
|
UTSW |
2 |
174,299,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6719:Tubb1
|
UTSW |
2 |
174,299,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Tubb1
|
UTSW |
2 |
174,298,825 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9084:Tubb1
|
UTSW |
2 |
174,299,197 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9331:Tubb1
|
UTSW |
2 |
174,297,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Tubb1
|
UTSW |
2 |
174,299,403 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0063:Tubb1
|
UTSW |
2 |
174,299,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGAGCTGATCGAAAATGTCATG -3'
(R):5'- CATATTCACGGCCAGCTTGC -3'
Sequencing Primer
(F):5'- CCTACAGGGTTTCCAGATCGTG -3'
(R):5'- CAGCTTGCGCAGGTCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation