Incidental Mutation 'IGL01534:Tubb3'
ID 89868
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL01534
Quality Score
Status
Chromosome 8
Chromosomal Location 124138292-124148754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124147705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 213 (R213C)
Ref Sequence ENSEMBL: ENSMUSP00000071134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071134] [ENSMUST00000127664] [ENSMUST00000212743] [ENSMUST00000212883]
AlphaFold Q9ERD7
Predicted Effect probably benign
Transcript: ENSMUST00000071134
AA Change: R213C

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000071134
Gene: ENSMUSG00000062380
AA Change: R213C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,197,146 (GRCm39) L111P possibly damaging Het
Adck5 C A 15: 76,478,926 (GRCm39) H383Q probably damaging Het
Arb2a T A 13: 78,147,830 (GRCm39) probably benign Het
Asns T A 6: 7,675,397 (GRCm39) H535L probably benign Het
Atf5 A G 7: 44,462,462 (GRCm39) S221P probably damaging Het
Atr T C 9: 95,747,599 (GRCm39) Y294H probably damaging Het
B230307C23Rik A G 16: 97,809,961 (GRCm39) probably benign Het
C1qtnf6 C T 15: 78,409,416 (GRCm39) E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 (GRCm39) probably benign Het
Cd48 C A 1: 171,523,307 (GRCm39) P50Q possibly damaging Het
Cnnm4 T C 1: 36,538,596 (GRCm39) Y593H probably benign Het
Col27a1 G A 4: 63,144,019 (GRCm39) R569Q probably benign Het
Cubn A T 2: 13,470,744 (GRCm39) C549* probably null Het
Dsg1a T A 18: 20,474,053 (GRCm39) M1042K probably benign Het
Dzip1 T A 14: 119,114,651 (GRCm39) T835S probably damaging Het
Eif3c T C 7: 126,156,867 (GRCm39) T389A probably benign Het
Erlin2 G T 8: 27,521,985 (GRCm39) E177* probably null Het
Gabrb1 T A 5: 72,026,772 (GRCm39) S91T possibly damaging Het
Grik3 T C 4: 125,579,983 (GRCm39) V576A probably damaging Het
Gtpbp2 T A 17: 46,474,430 (GRCm39) Y70N probably damaging Het
Idh3a T A 9: 54,508,506 (GRCm39) probably benign Het
Ift74 G A 4: 94,568,181 (GRCm39) R406H probably benign Het
Kcna7 C A 7: 45,055,935 (GRCm39) N50K probably damaging Het
Kcnd2 T C 6: 21,726,144 (GRCm39) S546P probably benign Het
Lrp4 G A 2: 91,303,986 (GRCm39) D134N probably damaging Het
Mcm2 A G 6: 88,864,700 (GRCm39) probably null Het
Nlrp12 T C 7: 3,288,463 (GRCm39) Y683C probably benign Het
Or14j3 A T 17: 37,900,963 (GRCm39) Y94N possibly damaging Het
Or2d4 T A 7: 106,543,546 (GRCm39) I221F probably damaging Het
Or8i2 A G 2: 86,852,228 (GRCm39) I220T probably damaging Het
Or9i1 A T 19: 13,839,283 (GRCm39) N42I probably damaging Het
Or9i14 T A 19: 13,792,666 (GRCm39) H96L probably benign Het
P2rx7 A C 5: 122,814,761 (GRCm39) I409L probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Rabggtb A G 3: 153,615,896 (GRCm39) probably null Het
Rgs4 A T 1: 169,572,085 (GRCm39) C71* probably null Het
Rnase10 T C 14: 51,245,436 (GRCm39) F5L probably benign Het
Scn11a T A 9: 119,609,888 (GRCm39) T987S probably benign Het
Shox2 A C 3: 66,885,696 (GRCm39) D126E probably benign Het
Slc12a1 A G 2: 125,059,830 (GRCm39) D910G probably damaging Het
Slc15a1 C T 14: 121,702,364 (GRCm39) C594Y possibly damaging Het
Spock2 C T 10: 59,962,883 (GRCm39) probably benign Het
Togaram1 G T 12: 65,013,321 (GRCm39) D191Y probably damaging Het
Triml2 T C 8: 43,640,660 (GRCm39) V172A probably benign Het
Vmn2r4 A T 3: 64,313,844 (GRCm39) V379E probably damaging Het
Zfp446 C T 7: 12,713,493 (GRCm39) P153L probably damaging Het
Zfp608 A T 18: 55,032,004 (GRCm39) N645K probably damaging Het
Other mutations in Tubb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-03