Incidental Mutation 'IGL00499:Tubb2b'
ID5946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubb2b
Ensembl Gene ENSMUSG00000045136
Gene Nametubulin, beta 2B class IIB
Synonyms2410129E14Rik, brdp
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.850) question?
Stock #IGL00499
Quality Score
Status
Chromosome13
Chromosomal Location34126748-34130466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34128346 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 155 (I155V)
Ref Sequence ENSEMBL: ENSMUSP00000075178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075774]
Predicted Effect probably benign
Transcript: ENSMUST00000075774
AA Change: I155V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075178
Gene: ENSMUSG00000045136
AA Change: I155V

DomainStartEndE-ValueType
Tubulin 47 244 2.93e-67 SMART
Tubulin_C 246 383 2.39e-49 SMART
low complexity region 431 444 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220744
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit mild hydroencephaly, telencephalon dysmorphology, a small olfactory bulb and prenatal lethality. Mice heterozygous for this mutation exhibit hyperactivity, reduced fertility and abnormal cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik C A 10: 70,875,308 noncoding transcript Het
Abcb9 T C 5: 124,077,238 D480G possibly damaging Het
Adam26a A T 8: 43,568,859 N531K possibly damaging Het
AW554918 A T 18: 25,420,065 K542* probably null Het
Blk A G 14: 63,380,720 F246L probably damaging Het
Camk1 T C 6: 113,336,211 E292G probably benign Het
Ccdc88a C T 11: 29,499,341 T261I probably benign Het
Cep290 A T 10: 100,543,327 Q57L probably damaging Het
Cpsf1 A T 15: 76,600,216 H688Q probably benign Het
Cryz T C 3: 154,604,942 V13A possibly damaging Het
Dst A G 1: 34,290,423 K6858R probably damaging Het
Dync2h1 A T 9: 7,168,700 V371E possibly damaging Het
Eps8 C A 6: 137,522,888 E181* probably null Het
Flt4 T C 11: 49,635,261 I796T probably damaging Het
Gmps A G 3: 64,014,367 N597S probably benign Het
Itgav T A 2: 83,802,995 M1011K probably damaging Het
Kif16b A G 2: 142,857,324 M112T probably damaging Het
Lig1 T C 7: 13,298,830 probably null Het
Lrrc30 A G 17: 67,632,039 F182S probably damaging Het
Oxsm A T 14: 16,242,076 M231K probably damaging Het
Pnisr T C 4: 21,870,407 probably null Het
Rsrc1 A T 3: 67,082,600 probably benign Het
Setd1b A T 5: 123,158,747 probably benign Het
Tbx6 A G 7: 126,781,529 Y8C probably damaging Het
Tmem33 T C 5: 67,284,195 Y196H probably damaging Het
Traf5 T C 1: 192,057,174 D96G possibly damaging Het
Tsc22d1 T A 14: 76,418,917 D945E probably damaging Het
Usp13 T A 3: 32,881,411 Y328N probably damaging Het
Usp17lc G A 7: 103,418,466 D323N probably damaging Het
Usp17lc G A 7: 103,418,465 M322I probably damaging Het
Zfp341 C T 2: 154,634,231 T446I probably damaging Het
Zfp407 A G 18: 84,561,752 L412P probably damaging Het
Zfp521 T A 18: 13,939,120 D21V probably benign Het
Zranb1 A G 7: 132,982,504 probably benign Het
Other mutations in Tubb2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00575:Tubb2b APN 13 34129261 missense probably damaging 0.99
R1246:Tubb2b UTSW 13 34128147 missense possibly damaging 0.79
R2055:Tubb2b UTSW 13 34127725 missense probably benign 0.02
R2071:Tubb2b UTSW 13 34128261 missense probably damaging 1.00
R2252:Tubb2b UTSW 13 34130215 missense possibly damaging 0.77
R2402:Tubb2b UTSW 13 34128226 missense probably benign 0.05
R4905:Tubb2b UTSW 13 34128204 missense probably damaging 1.00
R4928:Tubb2b UTSW 13 34128185 nonsense probably null
R5635:Tubb2b UTSW 13 34128197 missense probably damaging 1.00
R6349:Tubb2b UTSW 13 34127545 missense probably damaging 1.00
R6434:Tubb2b UTSW 13 34127578 missense probably damaging 0.99
R6994:Tubb2b UTSW 13 34127535 missense probably damaging 1.00
Posted On2012-04-20