Incidental Mutation 'R4153:Tubd1'
ID |
368383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubd1
|
Ensembl Gene |
ENSMUSG00000020513 |
Gene Name |
tubulin, delta 1 |
Synonyms |
4930550G19Rik |
MMRRC Submission |
040997-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R4153 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
86435817-86458186 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86440296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 107
(G107S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020821]
[ENSMUST00000058286]
[ENSMUST00000069503]
[ENSMUST00000108030]
[ENSMUST00000138810]
[ENSMUST00000167178]
[ENSMUST00000154617]
|
AlphaFold |
Q9R1K7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020821
AA Change: G107S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020821 Gene: ENSMUSG00000020513 AA Change: G107S
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 damaging
Transcript: ENSMUST00000069503
AA Change: G107S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064383 Gene: ENSMUSG00000020513 AA Change: G107S
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: G107S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103665 Gene: ENSMUSG00000020513 AA Change: G107S
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 damaging
Transcript: ENSMUST00000167178
AA Change: G107S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130909 Gene: ENSMUSG00000020513 AA Change: G107S
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: 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 |
|
Meta Mutation Damage Score |
0.9484 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,341,292 (GRCm39) |
V47A |
probably benign |
Het |
4932414N04Rik |
A |
T |
2: 68,498,941 (GRCm39) |
|
probably benign |
Het |
Acat2 |
T |
A |
17: 13,171,153 (GRCm39) |
H159L |
possibly damaging |
Het |
Acsl5 |
A |
G |
19: 55,269,895 (GRCm39) |
E253G |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,079,564 (GRCm39) |
Y220F |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Ebf2 |
T |
G |
14: 67,472,672 (GRCm39) |
V30G |
probably damaging |
Het |
Erlin1 |
T |
A |
19: 44,056,056 (GRCm39) |
T60S |
probably benign |
Het |
Fanca |
A |
G |
8: 124,031,617 (GRCm39) |
V358A |
possibly damaging |
Het |
Fastkd3 |
T |
C |
13: 68,738,257 (GRCm39) |
F602S |
probably damaging |
Het |
Fras1 |
C |
A |
5: 96,924,594 (GRCm39) |
N3678K |
probably benign |
Het |
Gopc |
T |
C |
10: 52,225,239 (GRCm39) |
I277V |
probably damaging |
Het |
Gpd2 |
A |
G |
2: 57,245,783 (GRCm39) |
T438A |
probably damaging |
Het |
Gzma |
T |
C |
13: 113,232,802 (GRCm39) |
K97E |
possibly damaging |
Het |
Gzmn |
T |
A |
14: 56,405,299 (GRCm39) |
T62S |
probably damaging |
Het |
Hip1 |
T |
C |
5: 135,441,560 (GRCm39) |
E570G |
probably damaging |
Het |
Hs3st6 |
T |
C |
17: 24,977,339 (GRCm39) |
V273A |
possibly damaging |
Het |
Jarid2 |
C |
A |
13: 45,063,902 (GRCm39) |
S873R |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Mast2 |
T |
C |
4: 116,173,160 (GRCm39) |
N548S |
possibly damaging |
Het |
Mthfr |
G |
T |
4: 148,135,932 (GRCm39) |
R335L |
probably damaging |
Het |
Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,408,564 (GRCm39) |
L808P |
probably damaging |
Het |
Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
Or56a3b |
A |
T |
7: 104,771,516 (GRCm39) |
H284L |
probably damaging |
Het |
Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
Pigk |
G |
A |
3: 152,445,766 (GRCm39) |
V126I |
probably damaging |
Het |
Plcl2 |
A |
T |
17: 50,913,389 (GRCm39) |
K133* |
probably null |
Het |
Pofut2 |
A |
G |
10: 77,104,500 (GRCm39) |
K426E |
probably benign |
Het |
Rbpj |
T |
A |
5: 53,806,789 (GRCm39) |
H230Q |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,300,308 (GRCm39) |
K269E |
probably benign |
Het |
Shh |
A |
T |
5: 28,662,947 (GRCm39) |
I407N |
probably damaging |
Het |
Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
Svep1 |
A |
T |
4: 58,089,426 (GRCm39) |
F1661Y |
possibly damaging |
Het |
Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
Thrap3 |
A |
C |
4: 126,067,235 (GRCm39) |
|
probably null |
Het |
Thumpd1 |
C |
T |
7: 119,319,816 (GRCm39) |
C50Y |
probably damaging |
Het |
Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,751,747 (GRCm39) |
D1368G |
possibly damaging |
Het |
Ugt1a6a |
A |
G |
1: 88,066,193 (GRCm39) |
|
probably null |
Het |
Uty |
A |
G |
Y: 1,158,327 (GRCm39) |
V572A |
possibly damaging |
Het |
Vmn1r171 |
A |
G |
7: 23,332,077 (GRCm39) |
K89E |
probably damaging |
Het |
Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
Vmn2r106 |
A |
G |
17: 20,488,080 (GRCm39) |
L773P |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,792,173 (GRCm39) |
|
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTTTACGCTCTGTGGTACC -3'
(R):5'- TGAGTTGAACCAGTCAGAGCTC -3'
Sequencing Primer
(F):5'- CCTACTCTAGTTCCAGTTGC -3'
(R):5'- TTGAACCAGTCAGAGCTCAGAAAG -3'
|
Posted On |
2016-02-03 |