Incidental Mutation 'R8320:Tubb3'
ID |
641914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubb3
|
Ensembl Gene |
ENSMUSG00000062380 |
Gene Name |
tubulin, beta 3 class III |
Synonyms |
3200002H15Rik, betaIII-tubulin, Tuj1 |
MMRRC Submission |
067722-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8320 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
124138292-124148754 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124147594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 176
(S176P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071134
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071134]
[ENSMUST00000127664]
[ENSMUST00000212743]
[ENSMUST00000212883]
|
AlphaFold |
Q9ERD7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071134
AA Change: S176P
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000071134 Gene: ENSMUSG00000062380 AA Change: S176P
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb10 |
A |
G |
5: 24,742,626 (GRCm39) |
|
probably null |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Clec3a |
T |
C |
8: 115,152,369 (GRCm39) |
V125A |
probably benign |
Het |
Clspn |
A |
G |
4: 126,457,743 (GRCm39) |
D258G |
possibly damaging |
Het |
Cnn3 |
T |
G |
3: 121,243,635 (GRCm39) |
L32R |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 116,374,466 (GRCm39) |
F993L |
possibly damaging |
Het |
Cobl |
A |
G |
11: 12,217,001 (GRCm39) |
S496P |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,291,043 (GRCm39) |
V2469A |
probably benign |
Het |
Egfr |
T |
C |
11: 16,841,251 (GRCm39) |
F714S |
probably damaging |
Het |
Erap1 |
G |
C |
13: 74,814,668 (GRCm39) |
E465Q |
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,242,972 (GRCm39) |
V204A |
probably benign |
Het |
Fbln2 |
C |
T |
6: 91,234,749 (GRCm39) |
T689I |
possibly damaging |
Het |
Fbxw13 |
G |
T |
9: 109,012,134 (GRCm39) |
T311K |
probably benign |
Het |
Foxj2 |
T |
A |
6: 122,810,649 (GRCm39) |
S210T |
probably benign |
Het |
Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
Gzmd |
A |
G |
14: 56,367,190 (GRCm39) |
I234T |
probably benign |
Het |
Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
Kif26b |
T |
C |
1: 178,711,641 (GRCm39) |
|
probably null |
Het |
Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
Klra10 |
A |
G |
6: 130,246,211 (GRCm39) |
C255R |
probably damaging |
Het |
Lgi4 |
T |
C |
7: 30,768,366 (GRCm39) |
V455A |
probably benign |
Het |
Mucl3 |
T |
C |
17: 35,954,530 (GRCm39) |
T11A |
probably benign |
Het |
Neb |
C |
A |
2: 52,186,343 (GRCm39) |
V910L |
probably benign |
Het |
Pigg |
G |
A |
5: 108,495,717 (GRCm39) |
R918H |
probably benign |
Het |
Poln |
A |
G |
5: 34,307,171 (GRCm39) |
V10A |
possibly damaging |
Het |
Polr1a |
T |
A |
6: 71,918,368 (GRCm39) |
M642K |
probably damaging |
Het |
Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
Rfc1 |
A |
T |
5: 65,460,379 (GRCm39) |
Y167* |
probably null |
Het |
Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
Sars2 |
C |
T |
7: 28,446,293 (GRCm39) |
T174I |
probably damaging |
Het |
Septin4 |
T |
C |
11: 87,480,560 (GRCm39) |
V398A |
possibly damaging |
Het |
Slc6a2 |
C |
T |
8: 93,719,476 (GRCm39) |
T397I |
probably benign |
Het |
Smarca4 |
G |
T |
9: 21,588,798 (GRCm39) |
R1200L |
probably benign |
Het |
Stx7 |
G |
T |
10: 24,055,046 (GRCm39) |
A63S |
probably damaging |
Het |
Sval3 |
G |
A |
6: 41,949,458 (GRCm39) |
V99I |
probably benign |
Het |
Syna |
A |
G |
5: 134,588,574 (GRCm39) |
I125T |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,150,604 (GRCm39) |
S1827P |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
Tpcn2 |
C |
T |
7: 144,820,359 (GRCm39) |
R373H |
possibly damaging |
Het |
Trpm1 |
A |
G |
7: 63,918,541 (GRCm39) |
D1511G |
possibly damaging |
Het |
Ttc3 |
C |
A |
16: 94,219,535 (GRCm39) |
R487S |
probably damaging |
Het |
Zfp189 |
C |
G |
4: 49,530,180 (GRCm39) |
Q428E |
probably benign |
Het |
Zscan4d |
C |
T |
7: 10,799,942 (GRCm39) |
V316M |
probably benign |
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 |
|
R3012:Tubb3
|
UTSW |
8 |
124,147,975 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GACTCAGTCCTAGATGTCGTGC -3'
(R):5'- TTGAGCTGACCAGGGAATCG -3'
Sequencing Primer
(F):5'- TCCTAGATGTCGTGCGGAAAG -3'
(R):5'- TCGAAGGGAGGTGGTGACTC -3'
|
Posted On |
2020-07-28 |