Incidental Mutation 'IGL00159:Tubd1'
| ID |
1143 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tubd1
|
| Ensembl Gene |
ENSMUSG00000020513 |
| Gene Name |
tubulin, delta 1 |
| Synonyms |
4930550G19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL00159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
86435817-86458186 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86456555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 374
(V374F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020821]
[ENSMUST00000069503]
[ENSMUST00000108030]
[ENSMUST00000167178]
|
| AlphaFold |
Q9R1K7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020821
AA Change: V405F
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: V405F
| 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: V374F
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: V374F
| 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: V405F
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: V405F
| 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 |
unknown
Transcript: ENSMUST00000164931
AA Change: V107F
|
| SMART Domains |
Protein: ENSMUSP00000130621
Gene: ENSMUSG00000020513
AA Change: V107F
| 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: V374F
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: V374F
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Axin1 |
A |
T |
17: 26,361,779 (GRCm39) |
D41V |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,101,197 (GRCm39) |
E718* |
probably null |
Het |
| Cdc123 |
G |
T |
2: 5,809,746 (GRCm39) |
Q222K |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,741,717 (GRCm39) |
V1053G |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,952,222 (GRCm39) |
E416V |
probably damaging |
Het |
| Dydc1 |
T |
C |
14: 40,809,370 (GRCm39) |
L143P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,158,839 (GRCm39) |
V732A |
probably benign |
Het |
| Dzip1l |
T |
A |
9: 99,519,830 (GRCm39) |
L119Q |
probably damaging |
Het |
| Erp27 |
T |
A |
6: 136,886,500 (GRCm39) |
S178C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,239,793 (GRCm39) |
V298A |
probably benign |
Het |
| Fbxo34 |
A |
G |
14: 47,766,931 (GRCm39) |
H97R |
probably damaging |
Het |
| Gm20521 |
C |
T |
14: 55,122,079 (GRCm39) |
Q81* |
probably null |
Het |
| Gspt1 |
T |
C |
16: 11,040,476 (GRCm39) |
M610V |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,344,964 (GRCm39) |
Q1919R |
possibly damaging |
Het |
| Il19 |
A |
G |
1: 130,862,792 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,002 (GRCm39) |
K1309E |
possibly damaging |
Het |
| Lurap1 |
T |
C |
4: 115,994,887 (GRCm39) |
T115A |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 113,021,997 (GRCm39) |
T465K |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,397,705 (GRCm39) |
D648V |
probably damaging |
Het |
| Or13c25 |
T |
G |
4: 52,911,618 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or2at4 |
G |
A |
7: 99,384,524 (GRCm39) |
R58H |
probably benign |
Het |
| Otof |
T |
C |
5: 30,533,248 (GRCm39) |
Y1527C |
probably damaging |
Het |
| Otop3 |
G |
A |
11: 115,235,223 (GRCm39) |
C285Y |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,348,586 (GRCm39) |
I478T |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,458,069 (GRCm39) |
E265K |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,841,851 (GRCm39) |
L634P |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,279,740 (GRCm39) |
V165L |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,281,948 (GRCm39) |
I306V |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,267,118 (GRCm39) |
D439G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,573,434 (GRCm39) |
I1428N |
probably damaging |
Het |
| Sgcg |
C |
T |
14: 61,469,924 (GRCm39) |
D146N |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,291,397 (GRCm39) |
|
probably null |
Het |
| Slc16a9 |
A |
G |
10: 70,118,529 (GRCm39) |
R283G |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,668,105 (GRCm39) |
D664G |
probably benign |
Het |
| Tmprss3 |
T |
A |
17: 31,413,982 (GRCm39) |
D54V |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,078,209 (GRCm39) |
M83K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,853,281 (GRCm39) |
E2458G |
probably benign |
Het |
| Vps35l |
G |
A |
7: 118,396,270 (GRCm39) |
|
probably null |
Het |
| Zhx2 |
A |
T |
15: 57,686,266 (GRCm39) |
E545V |
probably damaging |
Het |
|
| Other mutations in Tubd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2011-07-12 |
Incidental Mutation