Incidental Mutation 'R6474:Tubal3'
| ID |
516745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubal3
|
| Ensembl Gene |
ENSMUSG00000021216 |
| Gene Name |
tubulin, alpha-like 3 |
| Synonyms |
|
| MMRRC Submission |
044607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R6474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
3974695-3985277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3983107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 296
(S296T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021639]
|
| AlphaFold |
Q3UX10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021639
AA Change: S296T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021639
Gene: ENSMUSG00000021216
AA Change: S296T
| 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
|
| Meta Mutation Damage Score |
0.1100 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,359 (GRCm39) |
N90Y |
probably damaging |
Het |
| Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
| Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
| Clrn2 |
T |
A |
5: 45,621,074 (GRCm39) |
M156K |
probably benign |
Het |
| Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
| Ecsit |
A |
G |
9: 21,985,981 (GRCm39) |
V145A |
possibly damaging |
Het |
| Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
| Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
| Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
| Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,059,942 (GRCm39) |
D623E |
possibly damaging |
Het |
| Ppm1l |
T |
A |
3: 69,460,374 (GRCm39) |
I317N |
probably damaging |
Het |
| Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
| Sprtn |
G |
T |
8: 125,625,873 (GRCm39) |
E95* |
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
| Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,647 (GRCm39) |
D157G |
possibly damaging |
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 |
|
IGL02053:Tubal3
|
APN |
13 |
3,983,159 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCATTGAACGTCCTTCC -3'
(R):5'- TGAAACCAGTTGGACACCAATC -3'
Sequencing Primer
(F):5'- GCTAGTATCAACAGGCTGATTGCTC -3'
(R):5'- TCAACAAACTGAACAGAGGTCCTAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation