Incidental Mutation 'IGL01483:Tuba1b'
ID88701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tuba1b
Ensembl Gene ENSMUSG00000023004
Gene Nametubulin, alpha 1B
SynonymsTuba2
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01483
Quality Score
Status
Chromosome15
Chromosomal Location98931425-98934565 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98932457 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 161 (Y161H)
Ref Sequence ENSEMBL: ENSMUSP00000076777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077577] [ENSMUST00000134214]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077577
AA Change: Y161H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076777
Gene: ENSMUSG00000023004
AA Change: Y161H

DomainStartEndE-ValueType
Tubulin 49 246 6.98e-83 SMART
Tubulin_C 248 393 3.2e-59 SMART
low complexity region 433 450 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000134214
AA Change: Y161H

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229635
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Bmp10 A T 6: 87,433,951 D242V probably damaging Het
Ceacam12 A G 7: 18,067,521 R142G probably benign Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gcg T C 2: 62,480,483 D25G possibly damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Mindy4 A G 6: 55,216,685 D121G probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Noc4l T A 5: 110,648,958 K486M probably damaging Het
Notum T C 11: 120,656,656 D271G probably damaging Het
Pan3 T A 5: 147,529,973 L550Q probably benign Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Prr23a1 T G 9: 98,843,316 S244A probably benign Het
Rarb T C 14: 16,432,273 probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Tuba1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3147:Tuba1b UTSW 15 98932505 missense probably benign 0.01
R6471:Tuba1b UTSW 15 98932447 missense probably benign 0.05
R8209:Tuba1b UTSW 15 98931710 missense probably benign 0.17
R8226:Tuba1b UTSW 15 98931710 missense probably benign 0.17
Posted On2013-11-18