Incidental Mutation 'R0039:Tubd1'
| ID |
15530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubd1
|
| Ensembl Gene |
ENSMUSG00000020513 |
| Gene Name |
tubulin, delta 1 |
| Synonyms |
4930550G19Rik |
| MMRRC Submission |
038333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R0039 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86435817-86458186 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 86440221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 82
(Q82*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020821]
[ENSMUST00000058286]
[ENSMUST00000069503]
[ENSMUST00000108030]
[ENSMUST00000138810]
[ENSMUST00000154617]
[ENSMUST00000167178]
|
| AlphaFold |
Q9R1K7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020821
AA Change: Q82*
|
| SMART Domains |
Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: Q82*
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
246 |
2.91e-30 |
SMART |
|
Blast:Tubulin
|
273 |
323 |
1e-12 |
BLAST |
|
SCOP:d1tubb2
|
289 |
481 |
6e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000020824
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058286
|
| SMART Domains |
Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
91 |
202 |
1.2e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
91 |
253 |
5.9e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000069503
AA Change: Q82*
|
| SMART Domains |
Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: Q82*
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
246 |
2.91e-30 |
SMART |
|
SCOP:d1tubb2
|
256 |
450 |
1e-25 |
SMART |
|
Blast:Tubulin
|
258 |
292 |
1e-11 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108030
AA Change: Q82*
|
| SMART Domains |
Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: Q82*
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
246 |
2.91e-30 |
SMART |
|
Blast:Tubulin
|
273 |
323 |
1e-12 |
BLAST |
|
SCOP:d1tubb2
|
289 |
481 |
6e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138810
|
| SMART Domains |
Protein: ENSMUSP00000122756
Gene: ENSMUSG00000020516
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1koba_
|
13 |
74 |
9e-13 |
SMART |
|
PDB:4L3L|A
|
21 |
74 |
6e-30 |
PDB |
|
Blast:S_TKc
|
38 |
74 |
7e-16 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154617
|
| SMART Domains |
Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
91 |
352 |
8.24e-107 |
SMART |
|
S_TK_X
|
353 |
415 |
9.2e-27 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167178
AA Change: Q82*
|
| SMART Domains |
Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: Q82*
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
246 |
2.91e-30 |
SMART |
|
SCOP:d1tubb2
|
256 |
450 |
1e-25 |
SMART |
|
Blast:Tubulin
|
258 |
292 |
1e-11 |
BLAST |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 82.5%
- 3x: 74.4%
- 10x: 54.3%
- 20x: 37.4%
|
| Validation Efficiency |
95% (60/63) |
| Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
C |
T |
12: 52,565,518 (GRCm39) |
Q830* |
probably null |
Het |
| Atic |
A |
T |
1: 71,617,009 (GRCm39) |
E523V |
possibly damaging |
Het |
| Cass4 |
T |
A |
2: 172,268,900 (GRCm39) |
F329L |
probably damaging |
Het |
| Cdk17 |
A |
T |
10: 93,062,640 (GRCm39) |
|
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
| Cep170 |
A |
C |
1: 176,610,061 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
A |
G |
18: 20,654,541 (GRCm39) |
K82E |
probably benign |
Het |
| Dtd1 |
C |
T |
2: 144,588,896 (GRCm39) |
R185W |
probably damaging |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
T |
G |
12: 51,800,608 (GRCm39) |
E2070A |
possibly damaging |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,846 (GRCm39) |
K257* |
probably null |
Het |
| Ighv8-5 |
T |
A |
12: 115,031,207 (GRCm39) |
T111S |
possibly damaging |
Het |
| Lmtk2 |
G |
T |
5: 144,103,205 (GRCm39) |
L321F |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,592,416 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mroh8 |
T |
C |
2: 157,071,849 (GRCm39) |
H552R |
possibly damaging |
Het |
| Myh2 |
T |
A |
11: 67,069,103 (GRCm39) |
L304Q |
probably damaging |
Het |
| Prune1 |
T |
A |
3: 95,169,678 (GRCm39) |
T175S |
probably damaging |
Het |
| Rdh10 |
C |
T |
1: 16,199,508 (GRCm39) |
T238I |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,004,039 (GRCm39) |
H1647L |
possibly damaging |
Het |
| Rreb1 |
C |
T |
13: 38,083,613 (GRCm39) |
T92M |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,392,788 (GRCm39) |
M268K |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,313,926 (GRCm39) |
V1893A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,745,209 (GRCm39) |
L518Q |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,819 (GRCm39) |
V343D |
probably damaging |
Het |
| Topors |
A |
G |
4: 40,262,772 (GRCm39) |
S171P |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,576,847 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
G |
T |
17: 71,960,487 (GRCm39) |
G590* |
probably null |
Het |
|
| Other mutations in Tubd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Tubd1
|
APN |
11 |
86,456,555 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL00465:Tubd1
|
APN |
11 |
86,445,894 (GRCm39) |
splice site |
probably benign |
|
|
IGL03088:Tubd1
|
APN |
11 |
86,443,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03383:Tubd1
|
APN |
11 |
86,439,834 (GRCm39) |
splice site |
probably benign |
|
|
R0427:Tubd1
|
UTSW |
11 |
86,448,616 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0482:Tubd1
|
UTSW |
11 |
86,448,602 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2305:Tubd1
|
UTSW |
11 |
86,446,017 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4153:Tubd1
|
UTSW |
11 |
86,440,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4436:Tubd1
|
UTSW |
11 |
86,439,745 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4773:Tubd1
|
UTSW |
11 |
86,446,128 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4793:Tubd1
|
UTSW |
11 |
86,457,895 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4890:Tubd1
|
UTSW |
11 |
86,443,621 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4908:Tubd1
|
UTSW |
11 |
86,457,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Tubd1
|
UTSW |
11 |
86,448,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Tubd1
|
UTSW |
11 |
86,452,146 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6192:Tubd1
|
UTSW |
11 |
86,448,619 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7108:Tubd1
|
UTSW |
11 |
86,448,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8207:Tubd1
|
UTSW |
11 |
86,440,248 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8254:Tubd1
|
UTSW |
11 |
86,440,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Tubd1
|
UTSW |
11 |
86,439,659 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9024:Tubd1
|
UTSW |
11 |
86,445,991 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9166:Tubd1
|
UTSW |
11 |
86,452,091 (GRCm39) |
missense |
probably benign |
|
|
R9207:Tubd1
|
UTSW |
11 |
86,456,537 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9508:Tubd1
|
UTSW |
11 |
86,448,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Tubd1
|
UTSW |
11 |
86,440,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Tubd1
|
UTSW |
11 |
86,445,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tubd1
|
UTSW |
11 |
86,440,231 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Tubd1
|
UTSW |
11 |
86,443,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Protein Function and Prediction |
Tubd1 encodes the centrosome-specific protein delta (δ) 1 tubulin (1). A δ-tubulin Chlamydomonas mutant exhibited defects in flagellar biogenesis and in the structure of the triplet microtubules of the basal body/centriole (2); a similar function is proposed in human and mouse (1).
|
| References |
|
| Posted On |
2012-12-21 |
| Science Writer |
Anne Murray |
Incidental Mutation