Incidental Mutation 'R5404:Tuba3a'
ID 428625
Institutional Source Beutler Lab
Gene Symbol Tuba3a
Ensembl Gene ENSMUSG00000067702
Gene Name tubulin, alpha 3A
Synonyms Tuba3, M[a]3
MMRRC Submission 042975-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5404 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 125255237-125263005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125258555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 145 (T145K)
Ref Sequence ENSEMBL: ENSMUSP00000085580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088246]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000088246
AA Change: T145K

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085580
Gene: ENSMUSG00000067702
AA Change: T145K

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T C 15: 60,791,545 (GRCm39) H297R probably benign Het
Ccnk A T 12: 108,161,882 (GRCm39) K262N possibly damaging Het
Clec4b2 A T 6: 123,158,308 (GRCm39) Y58F probably benign Het
Cp A C 3: 20,043,292 (GRCm39) T1027P possibly damaging Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Cry1 T C 10: 85,020,283 (GRCm39) N18S probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock10 A G 1: 80,481,630 (GRCm39) probably benign Het
Fance A T 17: 28,537,034 (GRCm39) R58W probably null Het
Fermt1 T C 2: 132,776,789 (GRCm39) D233G possibly damaging Het
Gabpa T A 16: 84,657,351 (GRCm39) Y409N probably damaging Het
Gpr162 A G 6: 124,838,606 (GRCm39) S15P possibly damaging Het
Grid2 T A 6: 63,907,894 (GRCm39) I178N probably damaging Het
Il17re T C 6: 113,446,063 (GRCm39) V233A probably benign Het
Lemd3 G A 10: 120,767,863 (GRCm39) Q672* probably null Het
Myh15 A G 16: 48,980,341 (GRCm39) T1488A probably benign Het
Narf T A 11: 121,133,452 (GRCm39) H84Q probably benign Het
Nedd1 C T 10: 92,552,054 (GRCm39) V69I probably benign Het
Nfil3 G A 13: 53,122,091 (GRCm39) S271F probably damaging Het
Npc1 A G 18: 12,346,356 (GRCm39) L280P possibly damaging Het
Or2n1e T A 17: 38,586,517 (GRCm39) L285* probably null Het
Or4p20 C T 2: 88,254,145 (GRCm39) V75M probably damaging Het
Or51a25 T A 7: 102,372,807 (GRCm39) I297F possibly damaging Het
Poli A G 18: 70,642,503 (GRCm39) S503P probably benign Het
Rbm5 T C 9: 107,642,752 (GRCm39) E94G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rps6ka5 T C 12: 100,582,352 (GRCm39) I173M probably damaging Het
Slc40a1 A G 1: 45,951,488 (GRCm39) L223P probably damaging Het
Smg1 T C 7: 117,806,131 (GRCm39) K213E probably damaging Het
Spem1 T A 11: 69,711,763 (GRCm39) K300N probably damaging Het
Tchh A G 3: 93,354,982 (GRCm39) E1474G unknown Het
Tenm4 A T 7: 96,543,887 (GRCm39) R1968W probably damaging Het
Tshz2 A T 2: 169,726,240 (GRCm39) M279L probably benign Het
Other mutations in Tuba3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Tuba3a APN 6 125,258,303 (GRCm39) missense probably damaging 1.00
IGL01065:Tuba3a APN 6 125,259,920 (GRCm39) missense possibly damaging 0.74
IGL01610:Tuba3a APN 6 125,255,529 (GRCm39) missense possibly damaging 0.91
IGL01731:Tuba3a APN 6 125,259,721 (GRCm39) missense possibly damaging 0.61
IGL03152:Tuba3a APN 6 125,258,300 (GRCm39) missense probably damaging 0.97
R1989:Tuba3a UTSW 6 125,258,216 (GRCm39) missense probably damaging 1.00
R4434:Tuba3a UTSW 6 125,258,506 (GRCm39) nonsense probably null
R4655:Tuba3a UTSW 6 125,258,130 (GRCm39) missense possibly damaging 0.87
R5104:Tuba3a UTSW 6 125,259,347 (GRCm39) missense probably benign 0.27
R5297:Tuba3a UTSW 6 125,258,303 (GRCm39) missense probably damaging 1.00
R5307:Tuba3a UTSW 6 125,258,273 (GRCm39) missense probably damaging 1.00
R6732:Tuba3a UTSW 6 125,258,608 (GRCm39) missense probably benign
R8070:Tuba3a UTSW 6 125,255,433 (GRCm39) missense probably damaging 1.00
R8747:Tuba3a UTSW 6 125,258,018 (GRCm39) missense probably damaging 1.00
Z1176:Tuba3a UTSW 6 125,255,356 (GRCm39) missense unknown
Z1177:Tuba3a UTSW 6 125,259,941 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGTAGATGGCTTCGTTATCC -3'
(R):5'- ATTGTATTCAAACCCAGTGCGG -3'

Sequencing Primer
(F):5'- GGCTTCGTTATCCACCATGAAAG -3'
(R):5'- CCAGTGCGGCGTCTGTATG -3'
Posted On 2016-09-06