Incidental Mutation 'R8254:Tubd1'
ID |
640658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubd1
|
Ensembl Gene |
ENSMUSG00000020513 |
Gene Name |
tubulin, delta 1 |
Synonyms |
4930550G19Rik |
MMRRC Submission |
067680-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R8254 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
86435817-86458186 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86440264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 96
(Q96L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020821]
[ENSMUST00000058286]
[ENSMUST00000069503]
[ENSMUST00000108030]
[ENSMUST00000138810]
[ENSMUST00000154617]
[ENSMUST00000167178]
|
AlphaFold |
Q9R1K7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020821
AA Change: Q96L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020821 Gene: ENSMUSG00000020513 AA Change: Q96L
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: 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 |
possibly damaging
Transcript: ENSMUST00000069503
AA Change: Q96L
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000064383 Gene: ENSMUSG00000020513 AA Change: Q96L
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 damaging
Transcript: ENSMUST00000108030
AA Change: Q96L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103665 Gene: ENSMUSG00000020513 AA Change: Q96L
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 |
possibly damaging
Transcript: ENSMUST00000167178
AA Change: Q96L
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130909 Gene: ENSMUSG00000020513 AA Change: Q96L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
Arhgef2 |
T |
C |
3: 88,549,910 (GRCm39) |
L655P |
probably damaging |
Het |
Brsk2 |
T |
C |
7: 141,538,153 (GRCm39) |
S100P |
probably damaging |
Het |
Calb1 |
A |
G |
4: 15,898,926 (GRCm39) |
T141A |
probably benign |
Het |
Cog6 |
T |
C |
3: 52,900,938 (GRCm39) |
T447A |
probably benign |
Het |
Cyp4f13 |
A |
T |
17: 33,148,907 (GRCm39) |
N279K |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,842,259 (GRCm39) |
D4440G |
possibly damaging |
Het |
Dspp |
A |
T |
5: 104,323,194 (GRCm39) |
E112D |
possibly damaging |
Het |
Fam3c |
T |
A |
6: 22,328,675 (GRCm39) |
T71S |
possibly damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,846,774 (GRCm39) |
V1119A |
possibly damaging |
Het |
Fdxr |
C |
A |
11: 115,162,144 (GRCm39) |
G188W |
probably damaging |
Het |
Fndc5 |
T |
C |
4: 129,032,514 (GRCm39) |
V39A |
possibly damaging |
Het |
Gm14226 |
T |
C |
2: 154,866,646 (GRCm39) |
I201T |
possibly damaging |
Het |
Grip1 |
C |
T |
10: 119,890,810 (GRCm39) |
Q950* |
probably null |
Het |
Haspin |
A |
T |
11: 73,027,572 (GRCm39) |
Y506N |
probably benign |
Het |
Itga2b |
C |
A |
11: 102,358,212 (GRCm39) |
R171L |
probably benign |
Het |
Kctd2 |
C |
T |
11: 115,311,174 (GRCm39) |
P61S |
unknown |
Het |
Kirrel2 |
A |
G |
7: 30,149,801 (GRCm39) |
|
probably null |
Het |
Ldc1 |
C |
A |
4: 130,114,136 (GRCm39) |
A94S |
probably benign |
Het |
Lmx1b |
A |
G |
2: 33,455,126 (GRCm39) |
F310S |
|
Het |
Map4k4 |
A |
T |
1: 40,045,835 (GRCm39) |
I574F |
probably damaging |
Het |
Nrip1 |
T |
C |
16: 76,088,287 (GRCm39) |
K1090R |
probably benign |
Het |
Ntrk3 |
T |
C |
7: 77,842,326 (GRCm39) |
Y820C |
probably damaging |
Het |
Or5ac25 |
T |
A |
16: 59,182,534 (GRCm39) |
I16L |
probably benign |
Het |
Or5b96 |
T |
C |
19: 12,867,849 (GRCm39) |
T31A |
probably benign |
Het |
Pcdhb11 |
T |
C |
18: 37,555,242 (GRCm39) |
Y191H |
probably benign |
Het |
Pgm5 |
T |
C |
19: 24,705,089 (GRCm39) |
K475E |
probably benign |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Psd4 |
A |
T |
2: 24,293,223 (GRCm39) |
D696V |
probably damaging |
Het |
Rere |
T |
C |
4: 150,697,129 (GRCm39) |
F556L |
unknown |
Het |
Sema4f |
A |
T |
6: 82,894,382 (GRCm39) |
C528S |
probably damaging |
Het |
Sorcs2 |
A |
G |
5: 36,195,550 (GRCm39) |
S680P |
probably benign |
Het |
Sv2c |
T |
C |
13: 96,225,073 (GRCm39) |
T79A |
probably damaging |
Het |
Tars3 |
A |
G |
7: 65,325,809 (GRCm39) |
N461S |
probably benign |
Het |
Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,400,227 (GRCm39) |
D274G |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,709,882 (GRCm39) |
|
probably benign |
Het |
Vwce |
C |
A |
19: 10,627,938 (GRCm39) |
S466Y |
probably damaging |
Het |
Wdr11 |
T |
C |
7: 129,236,560 (GRCm39) |
I1178T |
probably benign |
Het |
Zfp568 |
A |
T |
7: 29,714,558 (GRCm39) |
H145L |
probably benign |
Het |
Zfp606 |
T |
C |
7: 12,226,788 (GRCm39) |
I303T |
possibly damaging |
Het |
Zfp846 |
A |
G |
9: 20,504,587 (GRCm39) |
D149G |
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 |
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 |
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'- GTTTACGCTCTGTGGTACCC -3'
(R):5'- AGTTGAACCAGTCAGAGCTCAG -3'
Sequencing Primer
(F):5'- ACTCTAGTTCCAGTTGCC -3'
(R):5'- TCTCAGAGGCTGAAAACATTCTAGGC -3'
|
Posted On |
2020-07-28 |