Incidental Mutation 'R2305:Tubd1'
| ID |
244565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubd1
|
| Ensembl Gene |
ENSMUSG00000020513 |
| Gene Name |
tubulin, delta 1 |
| Synonyms |
4930550G19Rik |
| MMRRC Submission |
040304-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R2305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86435817-86458186 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86446017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 219
(I219N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020821]
[ENSMUST00000069503]
[ENSMUST00000108030]
[ENSMUST00000167178]
|
| AlphaFold |
Q9R1K7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020821
AA Change: I219N
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: I219N
| 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: ENSMUST00000069503
AA Change: I219N
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: I219N
| 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: I219N
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: I219N
| 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: ENSMUST00000164931
|
| SMART Domains |
Protein: ENSMUSP00000130621
Gene: ENSMUSG00000020513
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Tubulin
|
2 |
27 |
1e-8 |
BLAST |
|
SCOP:d1tubb2
|
37 |
184 |
2e-22 |
SMART |
|
Blast:Tubulin
|
38 |
73 |
2e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167178
AA Change: I219N
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: I219N
| 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 |
0.1800 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
C |
A |
2: 58,171,711 (GRCm39) |
D295Y |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,062,764 (GRCm39) |
D406G |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,775,979 (GRCm39) |
S1443P |
possibly damaging |
Het |
| Casp8ap2 |
A |
T |
4: 32,646,411 (GRCm39) |
K1828I |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,743,236 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,090 (GRCm39) |
D357G |
probably damaging |
Het |
| Defb21 |
T |
A |
2: 152,416,791 (GRCm39) |
L89Q |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,387,913 (GRCm39) |
E3124V |
probably benign |
Het |
| Efcab7 |
A |
G |
4: 99,719,718 (GRCm39) |
T67A |
possibly damaging |
Het |
| Exo1 |
C |
T |
1: 175,716,327 (GRCm39) |
P148L |
probably damaging |
Het |
| Hps4 |
A |
G |
5: 112,494,527 (GRCm39) |
I37V |
probably damaging |
Het |
| Krt9 |
T |
A |
11: 100,083,942 (GRCm39) |
M30L |
unknown |
Het |
| Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
| Or10ak12 |
T |
G |
4: 118,666,058 (GRCm39) |
Q318H |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,451 (GRCm39) |
E15G |
probably benign |
Het |
| Phf3 |
G |
A |
1: 30,844,556 (GRCm39) |
Q1468* |
probably null |
Het |
| Phkb |
A |
G |
8: 86,770,431 (GRCm39) |
K900R |
possibly damaging |
Het |
| Pirb |
G |
A |
7: 3,715,990 (GRCm39) |
H755Y |
probably benign |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,468,284 (GRCm39) |
|
probably benign |
Het |
| Pus1 |
C |
A |
5: 110,922,826 (GRCm39) |
M232I |
probably benign |
Het |
| Serpina3a |
C |
A |
12: 104,082,787 (GRCm39) |
Q187K |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Syne1 |
C |
T |
10: 4,997,573 (GRCm39) |
E465K |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,336 (GRCm39) |
T360A |
probably damaging |
Het |
| Tlk2 |
T |
G |
11: 105,132,417 (GRCm39) |
I217R |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,758,338 (GRCm39) |
D377G |
probably damaging |
Het |
| Tmtc1 |
T |
C |
6: 148,146,195 (GRCm39) |
D866G |
probably damaging |
Het |
| Ugt3a1 |
C |
A |
15: 9,351,203 (GRCm39) |
P71T |
probably benign |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,535 (GRCm39) |
S3P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCTCCTGAGAGATATGAAATC -3'
(R):5'- ACTTTGGGTCTCTCAGAACATAC -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGAACAAGCTG -3'
(R):5'- CGGTTTTTCTACAAGTAACAGAAGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation