Incidental Mutation 'IGL01065:Tuba3a'
ID51241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tuba3a
Ensembl Gene ENSMUSG00000067702
Gene Nametubulin, alpha 3A
SynonymsM[a]3, Tuba3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01065
Quality Score
Status
Chromosome6
Chromosomal Location125278274-125286042 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 125282957 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 9 (V9M)
Ref Sequence ENSEMBL: ENSMUSP00000085580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088246]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088246
AA Change: V9M

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085580
Gene: ENSMUSG00000067702
AA Change: V9M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204911
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Apob A G 12: 8,003,299 Y1247C probably damaging Het
Atg16l1 A T 1: 87,785,931 N401I probably damaging Het
Bcam T C 7: 19,756,799 H591R probably benign Het
Bcat1 T C 6: 145,000,289 S446G possibly damaging Het
C2cd5 A G 6: 143,078,279 S262P probably damaging Het
Clrn1 T C 3: 58,885,025 K6E probably damaging Het
D17H6S53E A T 17: 35,127,283 K57* probably null Het
Dennd1a T A 2: 37,844,905 I17F probably benign Het
Depdc7 A C 2: 104,722,081 Y460* probably null Het
Disp3 T C 4: 148,261,183 Y400C probably damaging Het
Edem3 T C 1: 151,777,551 Y203H probably damaging Het
Fam71a T C 1: 191,163,027 D473G probably benign Het
Fbxl5 A G 5: 43,745,334 C679R probably damaging Het
Fhad1 T C 4: 141,905,612 T1194A probably benign Het
Gipc2 A G 3: 152,102,657 L253P possibly damaging Het
Gpr26 T C 7: 131,967,501 Y192H probably damaging Het
Hoxb6 A G 11: 96,300,809 T186A probably damaging Het
Kif24 A G 4: 41,423,639 probably benign Het
Lonp1 T C 17: 56,615,500 probably benign Het
Lrp1 A G 10: 127,575,038 I1427T probably benign Het
Lrp2 C T 2: 69,469,436 E3091K possibly damaging Het
Lzts1 T C 8: 69,136,092 N404S probably benign Het
Map3k4 A T 17: 12,232,990 D1470E probably damaging Het
Med30 A T 15: 52,721,060 N125Y probably benign Het
Mgam G A 6: 40,662,710 probably null Het
Mrps33 G A 6: 39,802,513 R83* probably null Het
Notch3 A T 17: 32,146,416 Y1107* probably null Het
Rc3h2 T A 2: 37,377,844 probably benign Het
Rev1 T C 1: 38,099,009 E65G possibly damaging Het
Rgl1 T C 1: 152,519,142 N760S probably damaging Het
Slc16a4 T C 3: 107,303,100 I362T possibly damaging Het
Slc25a24 G A 3: 109,158,651 probably benign Het
Slc2a4 G T 11: 69,945,956 probably benign Het
Slc39a13 T A 2: 91,063,706 I256F probably damaging Het
Spdya A T 17: 71,556,325 N23I possibly damaging Het
Srpr T A 9: 35,213,438 W112R probably damaging Het
Tbc1d4 A C 14: 101,449,193 probably benign Het
Ttc39d G A 17: 80,216,274 G121R probably damaging Het
Upf2 A G 2: 5,961,300 K244E unknown Het
Usp39 T C 6: 72,339,975 Y141C probably damaging Het
Other mutations in Tuba3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Tuba3a APN 6 125281340 missense probably damaging 1.00
IGL01610:Tuba3a APN 6 125278566 missense possibly damaging 0.91
IGL01731:Tuba3a APN 6 125282758 missense possibly damaging 0.61
IGL03152:Tuba3a APN 6 125281337 missense probably damaging 0.97
R1989:Tuba3a UTSW 6 125281253 missense probably damaging 1.00
R4434:Tuba3a UTSW 6 125281543 nonsense probably null
R4655:Tuba3a UTSW 6 125281167 missense possibly damaging 0.87
R5104:Tuba3a UTSW 6 125282384 missense probably benign 0.27
R5297:Tuba3a UTSW 6 125281340 missense probably damaging 1.00
R5307:Tuba3a UTSW 6 125281310 missense probably damaging 1.00
R5404:Tuba3a UTSW 6 125281592 missense possibly damaging 0.68
R6732:Tuba3a UTSW 6 125281645 missense probably benign
R8070:Tuba3a UTSW 6 125278470 missense probably damaging 1.00
R8747:Tuba3a UTSW 6 125281055 missense probably damaging 1.00
Z1176:Tuba3a UTSW 6 125278393 missense unknown
Z1177:Tuba3a UTSW 6 125282978 missense probably damaging 1.00
Posted On2013-06-21