Incidental Mutation 'IGL02669:Tubb3'
ID 302846
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 # IGL02669
Quality Score
Status
Chromosome 8
Chromosomal Location 124138292-124148754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124147856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 263 (L263P)
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: L263P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071134
Gene: ENSMUSG00000062380
AA Change: L263P

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T A 16: 19,702,505 (GRCm39) noncoding transcript Het
Acap1 G A 11: 69,785,421 (GRCm39) probably benign Het
Adam7 T C 14: 68,745,343 (GRCm39) Y627C probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Aoc1l2 A G 6: 48,908,407 (GRCm39) Y469C probably damaging Het
Bace2 T C 16: 97,238,093 (GRCm39) *515R probably null Het
Baiap3 C T 17: 25,463,322 (GRCm39) V958M probably damaging Het
Brms1l A T 12: 55,888,401 (GRCm39) D63V probably damaging Het
Cnksr1 A T 4: 133,957,774 (GRCm39) I435N probably damaging Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Cpne6 A G 14: 55,751,283 (GRCm39) N201S probably benign Het
Dnajc12 A G 10: 63,233,071 (GRCm39) S71G probably damaging Het
Dpp3 A T 19: 4,973,710 (GRCm39) probably null Het
E2f3 A G 13: 30,100,974 (GRCm39) S239P probably benign Het
Eif3e T A 15: 43,146,088 (GRCm39) M1L probably benign Het
Erap1 A G 13: 74,823,987 (GRCm39) T867A probably benign Het
Erlin1 G T 19: 44,027,658 (GRCm39) A260E probably damaging Het
Esrp1 A G 4: 11,386,324 (GRCm39) V38A possibly damaging Het
Foxn1 T C 11: 78,261,986 (GRCm39) R128G probably damaging Het
Gnb3 A G 6: 124,814,688 (GRCm39) L70P probably benign Het
Gon4l T C 3: 88,802,806 (GRCm39) V1139A probably damaging Het
Gpt2 G T 8: 86,249,908 (GRCm39) M463I probably benign Het
Gtpbp3 C A 8: 71,943,546 (GRCm39) A201D probably damaging Het
Jaml A C 9: 45,015,489 (GRCm39) K331T possibly damaging Het
Kntc1 G A 5: 123,893,727 (GRCm39) probably benign Het
Ksr2 A G 5: 117,693,446 (GRCm39) K298R probably damaging Het
Mfge8 T C 7: 78,795,429 (GRCm39) D46G probably benign Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Nup88 A G 11: 70,847,110 (GRCm39) M300T probably damaging Het
Or4c118 T A 2: 88,974,564 (GRCm39) K268* probably null Het
Or4k48 A T 2: 111,476,236 (GRCm39) Y35* probably null Het
Or52b4 A G 7: 102,184,868 (GRCm39) M305V probably benign Het
Prdm1 A T 10: 44,315,880 (GRCm39) M752K probably benign Het
Prl3b1 A T 13: 27,429,795 (GRCm39) M78L probably benign Het
Ralgps2 T C 1: 156,660,268 (GRCm39) E268G probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Slc4a5 A G 6: 83,240,525 (GRCm39) D279G possibly damaging Het
Tanc1 T A 2: 59,630,330 (GRCm39) I770K probably damaging Het
Tbl2 G A 5: 135,181,852 (GRCm39) R64H probably damaging Het
Tg T A 15: 66,620,575 (GRCm39) probably benign Het
Tmprss13 A T 9: 45,243,824 (GRCm39) I187F probably benign Het
Vmn2r109 T G 17: 20,774,518 (GRCm39) D279A possibly damaging Het
Vps33b A G 7: 79,925,786 (GRCm39) probably benign Het
Yeats2 A G 16: 20,005,033 (GRCm39) S338G probably benign Het
Zfp142 T C 1: 74,610,432 (GRCm39) Q1121R probably benign Het
Zic1 G T 9: 91,246,486 (GRCm39) H195Q possibly damaging Het
Other mutations in Tubb3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16