Incidental Mutation 'R4436:Tubd1'
| ID |
329541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubd1
|
| Ensembl Gene |
ENSMUSG00000020513 |
| Gene Name |
tubulin, delta 1 |
| Synonyms |
4930550G19Rik |
| MMRRC Submission |
041702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R4436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86435817-86458186 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86439745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 30
(S30F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020821]
[ENSMUST00000058286]
[ENSMUST00000069503]
[ENSMUST00000108030]
[ENSMUST00000138810]
[ENSMUST00000154617]
[ENSMUST00000167178]
|
| AlphaFold |
Q9R1K7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020821
AA Change: S30F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: S30F
| 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 benign
Transcript: ENSMUST00000069503
AA Change: S30F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: S30F
| 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 benign
Transcript: ENSMUST00000108030
AA Change: S30F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: S30F
| 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 benign
Transcript: ENSMUST00000167178
AA Change: S30F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: S30F
| 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 |
0.1524 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,248,768 (GRCm39) |
I779V |
possibly damaging |
Het |
| Asap1 |
T |
G |
15: 64,221,692 (GRCm39) |
D15A |
probably benign |
Het |
| Ascc2 |
A |
G |
11: 4,606,305 (GRCm39) |
D193G |
probably damaging |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,095,276 (GRCm39) |
I1941V |
probably benign |
Het |
| Ccdc85a |
T |
C |
11: 28,526,457 (GRCm39) |
T384A |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,194 (GRCm39) |
N91S |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,047,758 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
C |
7: 83,636,637 (GRCm39) |
D332G |
probably null |
Het |
| Ces2f |
G |
A |
8: 105,679,788 (GRCm39) |
R427H |
probably benign |
Het |
| Clec4a2 |
G |
A |
6: 123,105,013 (GRCm39) |
|
probably null |
Het |
| Coa8 |
T |
A |
12: 111,717,642 (GRCm39) |
D167E |
probably benign |
Het |
| Coq9 |
T |
C |
8: 95,579,743 (GRCm39) |
F198L |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,390,233 (GRCm39) |
A253S |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,240,078 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,187,024 (GRCm39) |
G1274V |
probably damaging |
Het |
| Ggn |
A |
T |
7: 28,870,976 (GRCm39) |
T132S |
probably damaging |
Het |
| Gm11568 |
T |
A |
11: 99,749,421 (GRCm39) |
C209S |
unknown |
Het |
| Gm6931 |
T |
A |
16: 49,245,225 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr20 |
C |
T |
15: 73,567,649 (GRCm39) |
V247I |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,237 (GRCm39) |
V329E |
possibly damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,223,808 (GRCm39) |
L114P |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hivep3 |
C |
T |
4: 119,953,120 (GRCm39) |
P479S |
probably benign |
Het |
| Igkv6-20 |
A |
G |
6: 70,313,104 (GRCm39) |
V23A |
probably damaging |
Het |
| Ikbip |
T |
A |
10: 90,937,751 (GRCm39) |
N141K |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,124 (GRCm39) |
E815G |
probably damaging |
Het |
| Krt77 |
A |
T |
15: 101,773,904 (GRCm39) |
V250E |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,202,502 (GRCm39) |
C1050S |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,421,135 (GRCm39) |
I40V |
probably benign |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,480,727 (GRCm39) |
F271L |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,100,246 (GRCm39) |
M1885V |
probably damaging |
Het |
| Plek |
A |
G |
11: 16,942,972 (GRCm39) |
Y107H |
probably damaging |
Het |
| Ppp1r15a |
C |
T |
7: 45,174,203 (GRCm39) |
V202M |
probably damaging |
Het |
| Ppp1r3e |
C |
A |
14: 55,114,007 (GRCm39) |
A222S |
probably benign |
Het |
| Rac2 |
G |
T |
15: 78,454,943 (GRCm39) |
Y32* |
probably null |
Het |
| Sdf4 |
T |
G |
4: 156,093,404 (GRCm39) |
|
probably null |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,512,817 (GRCm39) |
R111S |
probably benign |
Het |
| Ssh3 |
A |
G |
19: 4,315,394 (GRCm39) |
F315L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,595,253 (GRCm39) |
K11972R |
probably damaging |
Het |
| Vmn1r17 |
G |
C |
6: 57,337,719 (GRCm39) |
I166M |
possibly damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,478,645 (GRCm39) |
Y34C |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,906,869 (GRCm39) |
T945M |
probably damaging |
Het |
| Zfp316 |
C |
A |
5: 143,239,803 (GRCm39) |
A739S |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
probably benign |
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 |
|
|
R0039:Tubd1
|
UTSW |
11 |
86,440,221 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATAGAATGTGAGCATGTGGC -3'
(R):5'- CAAACCGCAGCATGGAGTAG -3'
Sequencing Primer
(F):5'- AGCAATGTGGTGGTTTCTCATGTC -3'
(R):5'- CCGCAGCATGGAGTAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation