Incidental Mutation 'IGL01823:Tubb6'
| ID |
154595 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tubb6
|
| Ensembl Gene |
ENSMUSG00000001473 |
| Gene Name |
tubulin, beta 6 class V |
| Synonyms |
2310057H16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
67523801-67535819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67535343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 414
(N414S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001513]
[ENSMUST00000025408]
|
| AlphaFold |
Q922F4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001513
AA Change: N414S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001513
Gene: ENSMUSG00000001473
AA Change: N414S
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
6.2e-66 |
SMART |
|
Tubulin_C
|
246 |
383 |
3.57e-48 |
SMART |
|
low complexity region
|
432 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025408
|
| SMART Domains |
Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
121 |
N/A |
INTRINSIC |
|
Pfam:FtsH_ext
|
144 |
241 |
8.8e-12 |
PFAM |
|
transmembrane domain
|
251 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
286 |
N/A |
INTRINSIC |
|
AAA
|
339 |
478 |
1.37e-23 |
SMART |
|
Pfam:Peptidase_M41
|
540 |
743 |
4e-77 |
PFAM |
|
low complexity region
|
780 |
794 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp6 |
A |
G |
13: 38,682,798 (GRCm39) |
T460A |
probably damaging |
Het |
| Cd209a |
T |
C |
8: 3,798,851 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,212,391 (GRCm39) |
L1250P |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,485,865 (GRCm39) |
N104D |
probably damaging |
Het |
| Fam161a |
A |
T |
11: 22,965,785 (GRCm39) |
E26V |
probably damaging |
Het |
| Foxa3 |
T |
C |
7: 18,748,443 (GRCm39) |
T228A |
probably benign |
Het |
| Gm8206 |
A |
T |
14: 6,017,078 (GRCm38) |
D133E |
probably benign |
Het |
| Ighv1-15 |
T |
A |
12: 114,621,212 (GRCm39) |
T38S |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,719,091 (GRCm39) |
D266G |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 64,973,819 (GRCm39) |
I365T |
probably damaging |
Het |
| Mcm4 |
T |
C |
16: 15,443,995 (GRCm39) |
D756G |
probably damaging |
Het |
| Mroh9 |
G |
A |
1: 162,883,178 (GRCm39) |
L434F |
probably benign |
Het |
| Or13p4 |
A |
G |
4: 118,546,918 (GRCm39) |
C244R |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,249 (GRCm39) |
C95R |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,507 (GRCm39) |
Y313F |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,444 (GRCm39) |
S103G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,556,483 (GRCm39) |
I87V |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,386 (GRCm39) |
F1766L |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,574 (GRCm39) |
V362D |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,724 (GRCm39) |
D917G |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,544,012 (GRCm39) |
V110A |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,159,358 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,334 (GRCm39) |
C480* |
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,175 (GRCm39) |
K158R |
probably benign |
Het |
| Wnt8a |
A |
T |
18: 34,677,846 (GRCm39) |
T85S |
possibly damaging |
Het |
|
| Other mutations in Tubb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02634:Tubb6
|
APN |
18 |
67,535,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Tubb6
|
UTSW |
18 |
67,534,391 (GRCm39) |
splice site |
probably null |
|
|
R2940:Tubb6
|
UTSW |
18 |
67,534,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3739:Tubb6
|
UTSW |
18 |
67,535,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Tubb6
|
UTSW |
18 |
67,526,063 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4660:Tubb6
|
UTSW |
18 |
67,535,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Tubb6
|
UTSW |
18 |
67,534,386 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6351:Tubb6
|
UTSW |
18 |
67,534,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Tubb6
|
UTSW |
18 |
67,534,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7863:Tubb6
|
UTSW |
18 |
67,534,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Tubb6
|
UTSW |
18 |
67,534,598 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8777-TAIL:Tubb6
|
UTSW |
18 |
67,534,598 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9013:Tubb6
|
UTSW |
18 |
67,526,046 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9216:Tubb6
|
UTSW |
18 |
67,534,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Tubb6
|
UTSW |
18 |
67,534,671 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9728:Tubb6
|
UTSW |
18 |
67,534,671 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2014-02-04 |
Incidental Mutation