Incidental Mutation 'IGL02053:Tubal3'
| ID |
185135 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tubal3
|
| Ensembl Gene |
ENSMUSG00000021216 |
| Gene Name |
tubulin, alpha-like 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
IGL02053
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
3974695-3985277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3983159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 313
(D313A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021639]
|
| AlphaFold |
Q3UX10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021639
AA Change: D313A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021639
Gene: ENSMUSG00000021216
AA Change: D313A
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
56 |
253 |
9.39e-66 |
SMART |
|
Tubulin_C
|
255 |
400 |
8.93e-49 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223035
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
C |
17: 43,761,058 (GRCm39) |
S918P |
possibly damaging |
Het |
| AY358078 |
G |
T |
14: 52,043,009 (GRCm39) |
E232D |
unknown |
Het |
| Baz1b |
C |
A |
5: 135,271,320 (GRCm39) |
P1301Q |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,662,990 (GRCm39) |
D311G |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,440,712 (GRCm39) |
L149Q |
probably damaging |
Het |
| Clec2m |
T |
C |
6: 129,303,725 (GRCm39) |
Q80R |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,940,294 (GRCm39) |
D1212V |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,358,891 (GRCm39) |
I343V |
probably damaging |
Het |
| Dapk2 |
A |
G |
9: 66,128,027 (GRCm39) |
I102V |
probably benign |
Het |
| Dntt |
A |
G |
19: 41,034,713 (GRCm39) |
T321A |
probably benign |
Het |
| Entrep2 |
C |
T |
7: 64,469,590 (GRCm39) |
G53R |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,090,769 (GRCm39) |
|
probably benign |
Het |
| Fbxw5 |
T |
C |
2: 25,393,453 (GRCm39) |
V18A |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,030,225 (GRCm39) |
C1109S |
probably benign |
Het |
| Ms4a6c |
A |
G |
19: 11,455,586 (GRCm39) |
I132V |
probably benign |
Het |
| Ncoa3 |
T |
C |
2: 165,896,754 (GRCm39) |
L515P |
probably damaging |
Het |
| Nfic |
A |
G |
10: 81,256,385 (GRCm39) |
V115A |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,008,413 (GRCm39) |
T207A |
probably benign |
Het |
| Pde10a |
G |
T |
17: 9,193,601 (GRCm39) |
V732L |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,883,779 (GRCm39) |
L626Q |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,200,230 (GRCm39) |
N270D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,272,144 (GRCm39) |
S977P |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,000,836 (GRCm39) |
L1073P |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,633,242 (GRCm39) |
H49Q |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,038,816 (GRCm39) |
I394F |
probably damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,047,738 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,550,413 (GRCm39) |
I151V |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,194,284 (GRCm39) |
N50I |
possibly damaging |
Het |
| Usp45 |
A |
G |
4: 21,824,553 (GRCm39) |
N483S |
probably benign |
Het |
|
| Other mutations in Tubal3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Tubal3
|
APN |
13 |
3,983,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Tubal3
|
APN |
13 |
3,980,675 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02426:Tubal3
|
APN |
13 |
3,982,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02548:Tubal3
|
APN |
13 |
3,980,554 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02981:Tubal3
|
APN |
13 |
3,983,257 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0458:Tubal3
|
UTSW |
13 |
3,983,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1626:Tubal3
|
UTSW |
13 |
3,982,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Tubal3
|
UTSW |
13 |
3,983,011 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2084:Tubal3
|
UTSW |
13 |
3,978,192 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3545:Tubal3
|
UTSW |
13 |
3,983,560 (GRCm39) |
makesense |
probably null |
|
|
R3976:Tubal3
|
UTSW |
13 |
3,982,946 (GRCm39) |
missense |
probably benign |
|
|
R4700:Tubal3
|
UTSW |
13 |
3,983,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4722:Tubal3
|
UTSW |
13 |
3,978,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Tubal3
|
UTSW |
13 |
3,983,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6474:Tubal3
|
UTSW |
13 |
3,983,107 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7049:Tubal3
|
UTSW |
13 |
3,982,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Tubal3
|
UTSW |
13 |
3,983,050 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7273:Tubal3
|
UTSW |
13 |
3,980,675 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7586:Tubal3
|
UTSW |
13 |
3,978,198 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8805:Tubal3
|
UTSW |
13 |
3,983,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Tubal3
|
UTSW |
13 |
3,983,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Tubal3
|
UTSW |
13 |
3,982,708 (GRCm39) |
nonsense |
probably null |
|
|
R9173:Tubal3
|
UTSW |
13 |
3,983,050 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9487:Tubal3
|
UTSW |
13 |
3,980,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Tubal3
|
UTSW |
13 |
3,983,511 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2014-05-07 |
Incidental Mutation