Incidental Mutation 'R3545:Tubal3'
ID |
268177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubal3
|
Ensembl Gene |
ENSMUSG00000021216 |
Gene Name |
tubulin, alpha-like 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
R3545 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
3974695-3985277 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to G
at 3983560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glycine
at position 447
(*447G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021639]
|
AlphaFold |
Q3UX10 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021639
AA Change: *447G
|
SMART Domains |
Protein: ENSMUSP00000021639 Gene: ENSMUSG00000021216 AA Change: *447G
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
Efl1 |
A |
T |
7: 82,412,018 (GRCm39) |
E802D |
probably benign |
Het |
F11r |
T |
C |
1: 171,288,829 (GRCm39) |
V149A |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
Fmn2 |
A |
G |
1: 174,330,192 (GRCm39) |
D194G |
unknown |
Het |
Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
Herc3 |
T |
C |
6: 58,833,670 (GRCm39) |
S186P |
probably damaging |
Het |
Hexa |
A |
G |
9: 59,464,581 (GRCm39) |
N157S |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,026,089 (GRCm39) |
N281K |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
Nlrp9a |
T |
C |
7: 26,256,757 (GRCm39) |
I125T |
probably benign |
Het |
Nme7 |
T |
C |
1: 164,213,351 (GRCm39) |
F343S |
probably damaging |
Het |
Otud4 |
A |
G |
8: 80,391,684 (GRCm39) |
E443G |
probably damaging |
Het |
Palld |
G |
T |
8: 62,003,112 (GRCm39) |
A329E |
possibly damaging |
Het |
Pask |
A |
T |
1: 93,244,837 (GRCm39) |
V1095D |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,375,557 (GRCm39) |
R1526Q |
probably benign |
Het |
Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
Ramac |
T |
A |
7: 81,418,270 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Septin9 |
T |
C |
11: 117,243,499 (GRCm39) |
I350T |
probably damaging |
Het |
Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
Spata32 |
T |
C |
11: 103,101,570 (GRCm39) |
E21G |
possibly damaging |
Het |
Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTGAGCAACACCACAGC -3'
(R):5'- TCCTAATCCCCAGAAGGCTCTC -3'
Sequencing Primer
(F):5'- CAATTGTGGAAGCCTGGGC -3'
(R):5'- GGCTCTCAGTTAGCAAAGGTGAATTC -3'
|
Posted On |
2015-02-19 |