Incidental Mutation 'IGL03152:Tuba3a'
| ID |
411115 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tuba3a
|
| Ensembl Gene |
ENSMUSG00000067702 |
| Gene Name |
tubulin, alpha 3A |
| Synonyms |
Tuba3, M[a]3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03152
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
125255237-125263005 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125258300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 230
(L230Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088246]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088246
AA Change: L230Q
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085580
Gene: ENSMUSG00000067702
AA Change: L230Q
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
49 |
246 |
4.47e-81 |
SMART |
|
Tubulin_C
|
248 |
393 |
8.44e-59 |
SMART |
|
low complexity region
|
433 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204911
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
T |
A |
5: 16,527,566 (GRCm39) |
N540K |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,646,693 (GRCm39) |
E43G |
probably damaging |
Het |
| Car14 |
A |
C |
3: 95,806,157 (GRCm39) |
C301W |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,217,458 (GRCm39) |
V9I |
possibly damaging |
Het |
| Edar |
A |
G |
10: 58,445,817 (GRCm39) |
F249S |
possibly damaging |
Het |
| Fads2b |
A |
G |
2: 85,330,648 (GRCm39) |
S220P |
probably damaging |
Het |
| Fhip2a |
C |
A |
19: 57,367,264 (GRCm39) |
T269K |
probably damaging |
Het |
| Gm4799 |
A |
G |
10: 82,790,797 (GRCm39) |
|
noncoding transcript |
Het |
| Grk4 |
T |
C |
5: 34,902,701 (GRCm39) |
S418P |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,636,598 (GRCm39) |
S774P |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,837,058 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Myef2l |
A |
T |
3: 10,153,334 (GRCm39) |
K34N |
probably benign |
Het |
| Or5al1 |
A |
T |
2: 85,990,030 (GRCm39) |
I228N |
possibly damaging |
Het |
| Pcgf6 |
A |
T |
19: 47,037,344 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,868,036 (GRCm39) |
R265C |
probably damaging |
Het |
| Smgc |
A |
G |
15: 91,725,625 (GRCm39) |
K2R |
possibly damaging |
Het |
| Stx5a |
T |
C |
19: 8,727,138 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,012,486 (GRCm39) |
N2560I |
probably benign |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,230,001 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,960,972 (GRCm39) |
S452P |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,469 (GRCm39) |
C173R |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,814,008 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tuba3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01020:Tuba3a
|
APN |
6 |
125,258,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01065:Tuba3a
|
APN |
6 |
125,259,920 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01610:Tuba3a
|
APN |
6 |
125,255,529 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01731:Tuba3a
|
APN |
6 |
125,259,721 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1989:Tuba3a
|
UTSW |
6 |
125,258,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4434:Tuba3a
|
UTSW |
6 |
125,258,506 (GRCm39) |
nonsense |
probably null |
|
|
R4655:Tuba3a
|
UTSW |
6 |
125,258,130 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5104:Tuba3a
|
UTSW |
6 |
125,259,347 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5297:Tuba3a
|
UTSW |
6 |
125,258,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Tuba3a
|
UTSW |
6 |
125,258,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5404:Tuba3a
|
UTSW |
6 |
125,258,555 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6732:Tuba3a
|
UTSW |
6 |
125,258,608 (GRCm39) |
missense |
probably benign |
|
|
R8070:Tuba3a
|
UTSW |
6 |
125,255,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8747:Tuba3a
|
UTSW |
6 |
125,258,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tuba3a
|
UTSW |
6 |
125,255,356 (GRCm39) |
missense |
unknown |
|
|
Z1177:Tuba3a
|
UTSW |
6 |
125,259,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation