Incidental Mutation 'IGL01483:Tuba1b'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tuba1b
Ensembl Gene ENSMUSG00000023004
Gene Nametubulin, alpha 1B
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01483
Quality Score
Chromosomal Location98931425-98934565 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98932457 bp
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

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