Incidental Mutation 'IGL01020:Tuba3a'
ID53628
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 #IGL01020
Quality Score
Status
Chromosome6
Chromosomal Location125278274-125286042 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 125281340 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 229 (R229H)
Ref Sequence ENSEMBL: ENSMUSP00000085580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088246]
Predicted Effect probably damaging
Transcript: ENSMUST00000088246
AA Change: R229H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085580
Gene: ENSMUSG00000067702
AA Change: R229H

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 T G 1: 177,130,967 probably benign Het
Aldh18a1 C T 19: 40,569,181 probably benign Het
Arhgap32 A G 9: 32,257,361 H880R probably benign Het
Arhgef7 G A 8: 11,782,540 S5N probably damaging Het
Atp6v1e1 T C 6: 120,808,411 M40V possibly damaging Het
Atr T C 9: 95,862,783 V51A probably damaging Het
Atxn10 A G 15: 85,375,422 probably null Het
Btbd16 T A 7: 130,824,361 I502N probably damaging Het
Casc4 G A 2: 121,925,722 V411I probably benign Het
Celsr2 G T 3: 108,403,270 L1499M probably damaging Het
Cfl1 C T 19: 5,493,681 probably benign Het
Cul9 T C 17: 46,539,023 E500G probably damaging Het
Dusp3 G T 11: 101,984,644 N31K probably benign Het
Erbb4 A T 1: 68,298,449 probably benign Het
Fam234b G A 6: 135,211,906 V170M probably benign Het
Fign A G 2: 63,979,010 S639P probably damaging Het
Gbp7 A G 3: 142,542,857 T294A probably benign Het
Ift80 C T 3: 68,963,679 D195N probably damaging Het
Kif21b G T 1: 136,154,094 probably benign Het
Kif2c A T 4: 117,166,904 F397I probably damaging Het
Lamc3 T C 2: 31,914,656 V567A probably benign Het
Letmd1 T C 15: 100,471,759 M36T probably damaging Het
Lrp1b A G 2: 40,998,247 W2220R probably damaging Het
Mical2 T A 7: 112,315,076 probably benign Het
Mtif2 A G 11: 29,544,973 D691G possibly damaging Het
Myh8 G A 11: 67,283,403 V189M probably damaging Het
Myo9b G A 8: 71,352,000 R1418K probably benign Het
Nkpd1 G A 7: 19,518,749 V7M possibly damaging Het
Nrxn2 G A 19: 6,493,443 V1116I probably benign Het
Nynrin A G 14: 55,868,448 M875V probably benign Het
Oat T C 7: 132,567,173 probably null Het
Olfr855 G A 9: 19,585,320 S261N possibly damaging Het
Olfr938 A C 9: 39,078,451 I98R probably damaging Het
Prkaa2 C T 4: 105,075,462 R63Q probably damaging Het
Psg29 T A 7: 17,208,732 S219R probably benign Het
Ptprc T C 1: 138,120,173 probably null Het
Pwwp2b G T 7: 139,254,855 E71* probably null Het
Robo2 T C 16: 73,928,151 T1055A probably benign Het
Serpina9 T A 12: 104,008,586 N103Y probably damaging Het
Sis T C 3: 72,966,838 E10G probably damaging Het
Tbck C T 3: 132,727,142 Q438* probably null Het
Thnsl1 T C 2: 21,212,494 L353S probably damaging Het
Tmem237 C A 1: 59,107,453 probably null Het
Zbtb2 A G 10: 4,369,702 I108T probably benign Het
Zfp345 T C 2: 150,473,047 N190S possibly damaging Het
Other mutations in Tuba3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Tuba3a APN 6 125282957 missense possibly damaging 0.74
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
Posted On2013-06-28