Incidental Mutation 'IGL03336:Tuba3b'
ID417030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tuba3b
Ensembl Gene ENSMUSG00000067338
Gene Nametubulin, alpha 3B
SynonymsM[a]7, Tuba7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #IGL03336
Quality Score
Status
Chromosome6
Chromosomal Location145615757-145621479 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 145619724 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 306 (D306G)
Ref Sequence ENSEMBL: ENSMUSP00000084713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087445]
Predicted Effect possibly damaging
Transcript: ENSMUST00000087445
AA Change: D306G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084713
Gene: ENSMUSG00000067338
AA Change: D306G

DomainStartEndE-ValueType
Tubulin 49 246 4.47e-81 SMART
Tubulin_C 248 393 8.44e-59 SMART
low complexity region 433 449 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 60,016,402 V63A probably benign Het
Ankrd11 A G 8: 122,891,843 S1757P probably benign Het
Atp8a1 G T 5: 67,729,807 Y629* probably null Het
Cenpf T C 1: 189,652,647 K2479E probably damaging Het
Clip1 G T 5: 123,653,570 S179* probably null Het
Cmya5 A G 13: 93,093,505 S1692P possibly damaging Het
Cyp17a1 T C 19: 46,671,035 S119G probably benign Het
Fndc5 T C 4: 129,139,918 F160L probably benign Het
Muc5b T C 7: 141,864,363 V3682A probably damaging Het
Myh8 G T 11: 67,284,702 D328Y probably damaging Het
Olfr1226 T C 2: 89,193,897 T46A probably benign Het
Olfr566 C T 7: 102,856,616 C222Y probably benign Het
Olfr633 T C 7: 103,947,409 L281P probably damaging Het
Olfr713 T A 7: 107,036,335 M60K probably damaging Het
Olfr772 T C 10: 129,174,229 E264G probably benign Het
Paxbp1 T C 16: 91,034,172 I439V probably benign Het
Pcdhb3 T C 18: 37,302,961 V660A possibly damaging Het
Pcyt2 T C 11: 120,615,932 D32G probably damaging Het
Pdzph1 A T 17: 58,974,234 V351D probably benign Het
Ribc2 C T 15: 85,132,913 Q51* probably null Het
Scn2a A G 2: 65,688,744 E438G probably damaging Het
Slc18a3 T C 14: 32,462,828 probably benign Het
Slc5a1 G A 5: 33,146,943 V296I probably benign Het
Slit3 A T 11: 35,670,101 T958S probably damaging Het
Spag8 C T 4: 43,652,114 probably benign Het
Susd3 A C 13: 49,238,782 S144R probably benign Het
Synpo2 T C 3: 123,114,179 E496G possibly damaging Het
Tbcel T C 9: 42,439,131 T269A probably benign Het
Tmem156 A G 5: 65,075,764 Y152H probably benign Het
Tmem247 A G 17: 86,918,429 E99G probably damaging Het
Vps13c T A 9: 67,951,642 D2791E possibly damaging Het
Ypel4 A G 2: 84,737,527 Y98C probably damaging Het
Other mutations in Tuba3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Tuba3b APN 6 145619666 missense probably benign 0.01
IGL03027:Tuba3b APN 6 145619391 missense probably damaging 1.00
R0086:Tuba3b UTSW 6 145621160 missense probably damaging 1.00
R0454:Tuba3b UTSW 6 145618269 missense probably benign 0.13
R0631:Tuba3b UTSW 6 145619576 missense probably damaging 0.99
R1376:Tuba3b UTSW 6 145618774 missense possibly damaging 0.86
R1376:Tuba3b UTSW 6 145618774 missense possibly damaging 0.86
R1476:Tuba3b UTSW 6 145618453 missense possibly damaging 0.61
R2137:Tuba3b UTSW 6 145618833 missense probably benign
R4993:Tuba3b UTSW 6 145621273 missense possibly damaging 0.79
R5796:Tuba3b UTSW 6 145619682 missense probably damaging 1.00
R5945:Tuba3b UTSW 6 145619745 missense probably damaging 0.99
R6045:Tuba3b UTSW 6 145621174 missense probably damaging 1.00
R6768:Tuba3b UTSW 6 145618729 splice site probably null
R7055:Tuba3b UTSW 6 145621209 missense possibly damaging 0.54
R7815:Tuba3b UTSW 6 145621121 missense possibly damaging 0.91
X0023:Tuba3b UTSW 6 145621174 missense probably damaging 1.00
Z1177:Tuba3b UTSW 6 145621292 missense probably damaging 1.00
Posted On2016-08-02