Incidental Mutation 'R1376:Tuba3b'
ID |
186253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tuba3b
|
Ensembl Gene |
ENSMUSG00000067338 |
Gene Name |
tubulin, alpha 3B |
Synonyms |
Tuba7, M[a]7 |
MMRRC Submission |
039440-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.233)
|
Stock # |
R1376 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
145561689-145567203 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145564500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 90
(E90G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087445]
[ENSMUST00000148739]
|
AlphaFold |
P05214 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087445
AA Change: E90G
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000084713 Gene: ENSMUSG00000067338 AA Change: E90G
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: ENSMUST00000142122
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144829
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148739
|
SMART Domains |
Protein: ENSMUSP00000120740 Gene: ENSMUSG00000054966
Domain | Start | End | E-Value | Type |
Pfam:LTD
|
24 |
144 |
1.2e-18 |
PFAM |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.5813 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 89.2%
|
Validation Efficiency |
100% (29/29) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,252,164 (GRCm39) |
|
probably benign |
Het |
Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
Gm11787 |
A |
G |
4: 3,516,373 (GRCm39) |
|
noncoding transcript |
Het |
Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
Sec24a |
A |
C |
11: 51,591,740 (GRCm39) |
|
probably benign |
Het |
Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tuba3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02159:Tuba3b
|
APN |
6 |
145,565,392 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03027:Tuba3b
|
APN |
6 |
145,565,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03336:Tuba3b
|
APN |
6 |
145,565,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0086:Tuba3b
|
UTSW |
6 |
145,566,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R0454:Tuba3b
|
UTSW |
6 |
145,563,995 (GRCm39) |
missense |
probably benign |
0.13 |
R0631:Tuba3b
|
UTSW |
6 |
145,565,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R1376:Tuba3b
|
UTSW |
6 |
145,564,500 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1476:Tuba3b
|
UTSW |
6 |
145,564,179 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2137:Tuba3b
|
UTSW |
6 |
145,564,559 (GRCm39) |
missense |
probably benign |
|
R4993:Tuba3b
|
UTSW |
6 |
145,566,999 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5796:Tuba3b
|
UTSW |
6 |
145,565,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R5945:Tuba3b
|
UTSW |
6 |
145,565,471 (GRCm39) |
missense |
probably damaging |
0.99 |
R6045:Tuba3b
|
UTSW |
6 |
145,566,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R6768:Tuba3b
|
UTSW |
6 |
145,564,455 (GRCm39) |
splice site |
probably null |
|
R7055:Tuba3b
|
UTSW |
6 |
145,566,935 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7815:Tuba3b
|
UTSW |
6 |
145,566,847 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8997:Tuba3b
|
UTSW |
6 |
145,566,954 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9006:Tuba3b
|
UTSW |
6 |
145,565,564 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9026:Tuba3b
|
UTSW |
6 |
145,563,996 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9786:Tuba3b
|
UTSW |
6 |
145,564,482 (GRCm39) |
missense |
probably benign |
0.19 |
X0023:Tuba3b
|
UTSW |
6 |
145,566,900 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tuba3b
|
UTSW |
6 |
145,567,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGGGACGACTCATTCAACACATTC -3'
(R):5'- TCAGATCGTCTACCATACAGACGCC -3'
Sequencing Primer
(F):5'- GTGTCTCGGAAAAGCCCAC -3'
(R):5'- CCGCACTGGGTTTGAATACAATG -3'
|
Posted On |
2014-05-09 |