Incidental Mutation 'R3012:Tubb3'
| ID |
257538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubb3
|
| Ensembl Gene |
ENSMUSG00000062380 |
| Gene Name |
tubulin, beta 3 class III |
| Synonyms |
3200002H15Rik, betaIII-tubulin, Tuj1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3012 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
124138292-124148754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 124147975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 303
(C303G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071134]
[ENSMUST00000127664]
[ENSMUST00000212743]
[ENSMUST00000212883]
|
| AlphaFold |
Q9ERD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071134
AA Change: C303G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071134
Gene: ENSMUSG00000062380
AA Change: C303G
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
8.63e-65 |
SMART |
|
Tubulin_C
|
246 |
383 |
1.35e-48 |
SMART |
|
low complexity region
|
427 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212883
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit neonatal lethality associated with respiratory distress, abnormal corpus callosum morphology, abnormal cranial nerves, and defective axon guidance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
G |
T |
19: 40,546,135 (GRCm39) |
Y585* |
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,378,727 (GRCm39) |
P2563S |
probably damaging |
Het |
| Atg10 |
A |
T |
13: 91,302,397 (GRCm39) |
F47Y |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,668,579 (GRCm39) |
D535G |
probably damaging |
Het |
| Dennd11 |
T |
C |
6: 40,412,926 (GRCm39) |
E45G |
probably benign |
Het |
| Dgat1 |
T |
A |
15: 76,387,593 (GRCm39) |
Q308H |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,377,318 (GRCm39) |
I1701T |
possibly damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Fes |
G |
C |
7: 80,036,915 (GRCm39) |
S56R |
possibly damaging |
Het |
| Gria1 |
G |
A |
11: 57,180,260 (GRCm39) |
V737M |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,453,319 (GRCm39) |
H84R |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,136 (GRCm39) |
|
probably null |
Het |
| Il15 |
T |
A |
8: 83,071,049 (GRCm39) |
N22I |
probably damaging |
Het |
| Me1 |
A |
G |
9: 86,493,965 (GRCm39) |
S323P |
probably benign |
Het |
| Or10a5 |
T |
C |
7: 106,635,569 (GRCm39) |
F69S |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,832,873 (GRCm39) |
|
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,691 (GRCm39) |
T233A |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,200 (GRCm39) |
V128F |
possibly damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,050,011 (GRCm39) |
V509A |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,542,525 (GRCm39) |
T1428S |
probably benign |
Het |
| Ttc27 |
A |
T |
17: 75,147,454 (GRCm39) |
I669F |
probably benign |
Het |
| Tulp2 |
G |
T |
7: 45,168,187 (GRCm39) |
V188L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,166,249 (GRCm39) |
Y840H |
probably damaging |
Het |
|
| Other mutations in Tubb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:Tubb3
|
APN |
8 |
124,147,705 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02208:Tubb3
|
APN |
8 |
124,147,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02253:Tubb3
|
APN |
8 |
124,147,559 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02669:Tubb3
|
APN |
8 |
124,147,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
F5770:Tubb3
|
UTSW |
8 |
124,138,414 (GRCm39) |
splice site |
probably benign |
|
|
PIT4810001:Tubb3
|
UTSW |
8 |
124,148,396 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1164:Tubb3
|
UTSW |
8 |
124,148,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Tubb3
|
UTSW |
8 |
124,148,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Tubb3
|
UTSW |
8 |
124,148,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Tubb3
|
UTSW |
8 |
124,148,417 (GRCm39) |
splice site |
probably null |
|
|
R3913:Tubb3
|
UTSW |
8 |
124,147,748 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3951:Tubb3
|
UTSW |
8 |
124,148,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4609:Tubb3
|
UTSW |
8 |
124,147,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Tubb3
|
UTSW |
8 |
124,147,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5256:Tubb3
|
UTSW |
8 |
124,148,391 (GRCm39) |
missense |
probably benign |
|
|
R5690:Tubb3
|
UTSW |
8 |
124,148,045 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7638:Tubb3
|
UTSW |
8 |
124,147,900 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8263:Tubb3
|
UTSW |
8 |
124,147,868 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8320:Tubb3
|
UTSW |
8 |
124,147,594 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8503:Tubb3
|
UTSW |
8 |
124,147,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9030:Tubb3
|
UTSW |
8 |
124,145,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Tubb3
|
UTSW |
8 |
124,148,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGTCTGCCACCATGAGTG -3'
(R):5'- ATGACATTTTGAGCCCACGG -3'
Sequencing Primer
(F):5'- GATTCCCTGGTCAGCTCAATG -3'
(R):5'- ACGGGGTGGGATGTCAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation