Incidental Mutation 'R1376:Tuba3b'
ID 186253
Institutional Source Beutler Lab
Gene Symbol Tuba3b
Ensembl Gene ENSMUSG00000067338
Gene Name tubulin, alpha 3B
Synonyms Tuba7, M[a]7
MMRRC Submission 039440-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R1376 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 145561689-145567203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145564500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 90 (E90G)
Ref Sequence ENSEMBL: ENSMUSP00000084713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087445] [ENSMUST00000148739]
AlphaFold P05214
Predicted Effect possibly damaging
Transcript: ENSMUST00000087445
AA Change: E90G

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084713
Gene: ENSMUSG00000067338
AA Change: E90G

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: ENSMUST00000142122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144829
Predicted Effect probably benign
Transcript: ENSMUST00000148739
SMART Domains Protein: ENSMUSP00000120740
Gene: ENSMUSG00000054966

DomainStartEndE-ValueType
Pfam:LTD 24 144 1.2e-18 PFAM
low complexity region 228 244 N/A INTRINSIC
low complexity region 248 266 N/A INTRINSIC
Meta Mutation Damage Score 0.5813 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 89.2%
Validation Efficiency 100% (29/29)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,254,735 (GRCm39) I362N possibly damaging Het
9130023H24Rik A G 7: 127,836,182 (GRCm39) V137A probably benign Het
Adal A G 2: 120,983,011 (GRCm39) D177G probably damaging Het
Cdcp2 G T 4: 106,959,956 (GRCm39) V124F possibly damaging Het
Ceacam3 T C 7: 16,897,088 (GRCm39) C685R probably damaging Het
Cep295 T C 9: 15,252,164 (GRCm39) probably benign Het
Cfd T C 10: 79,727,986 (GRCm39) I174T possibly damaging Het
Dapk2 C G 9: 66,127,925 (GRCm39) R68G probably damaging Het
Ehd1 C T 19: 6,344,418 (GRCm39) T226M probably damaging Het
Elp5 A G 11: 69,865,916 (GRCm39) V120A probably benign Het
Fzd1 G A 5: 4,807,174 (GRCm39) T136M possibly damaging Het
Galntl5 G T 5: 25,391,286 (GRCm39) V62F probably benign Het
Gm11787 A G 4: 3,516,373 (GRCm39) noncoding transcript Het
Josd2 C A 7: 44,120,539 (GRCm39) P50H probably damaging Het
Lect2 T A 13: 56,690,577 (GRCm39) I133F probably damaging Het
Lifr A G 15: 7,214,245 (GRCm39) T700A probably benign Het
Lpl T C 8: 69,340,250 (GRCm39) W82R probably damaging Het
Man2a1 C T 17: 64,979,038 (GRCm39) R523C possibly damaging Het
Mast4 T C 13: 102,872,916 (GRCm39) K1959E possibly damaging Het
Minar1 T C 9: 89,473,299 (GRCm39) T871A probably damaging Het
Or10ag57 A G 2: 87,218,162 (GRCm39) M38V probably benign Het
Or10ag58 C T 2: 87,264,903 (GRCm39) S24L possibly damaging Het
Pde4dip A G 3: 97,650,533 (GRCm39) V963A probably damaging Het
Pdgfd A G 9: 6,376,994 (GRCm39) I357V probably benign Het
Pold1 T C 7: 44,189,986 (GRCm39) D400G probably damaging Het
Ppp1r12a T C 10: 108,034,779 (GRCm39) I108T probably damaging Het
Rimbp2 G C 5: 128,847,355 (GRCm39) P931A possibly damaging Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Sec24a A C 11: 51,591,740 (GRCm39) probably benign Het
Sf3b1 A T 1: 55,058,424 (GRCm39) V55E probably damaging Het
Sult2a2 T C 7: 13,468,696 (GRCm39) V54A probably damaging Het
Taok3 T C 5: 117,404,026 (GRCm39) Y734H probably damaging Het
Tasor A G 14: 27,151,338 (GRCm39) K105E probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Other mutations in Tuba3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Tuba3b APN 6 145,565,392 (GRCm39) missense probably benign 0.01
IGL03027:Tuba3b APN 6 145,565,117 (GRCm39) missense probably damaging 1.00
IGL03336:Tuba3b APN 6 145,565,450 (GRCm39) missense possibly damaging 0.90
R0086:Tuba3b UTSW 6 145,566,886 (GRCm39) missense probably damaging 1.00
R0454:Tuba3b UTSW 6 145,563,995 (GRCm39) missense probably benign 0.13
R0631:Tuba3b UTSW 6 145,565,302 (GRCm39) missense probably damaging 0.99
R1376:Tuba3b UTSW 6 145,564,500 (GRCm39) missense possibly damaging 0.86
R1476:Tuba3b UTSW 6 145,564,179 (GRCm39) missense possibly damaging 0.61
R2137:Tuba3b UTSW 6 145,564,559 (GRCm39) missense probably benign
R4993:Tuba3b UTSW 6 145,566,999 (GRCm39) missense possibly damaging 0.79
R5796:Tuba3b UTSW 6 145,565,408 (GRCm39) missense probably damaging 1.00
R5945:Tuba3b UTSW 6 145,565,471 (GRCm39) missense probably damaging 0.99
R6045:Tuba3b UTSW 6 145,566,900 (GRCm39) missense probably damaging 1.00
R6768:Tuba3b UTSW 6 145,564,455 (GRCm39) splice site probably null
R7055:Tuba3b UTSW 6 145,566,935 (GRCm39) missense possibly damaging 0.54
R7815:Tuba3b UTSW 6 145,566,847 (GRCm39) missense possibly damaging 0.91
R8997:Tuba3b UTSW 6 145,566,954 (GRCm39) missense possibly damaging 0.92
R9006:Tuba3b UTSW 6 145,565,564 (GRCm39) missense possibly damaging 0.55
R9026:Tuba3b UTSW 6 145,563,996 (GRCm39) missense possibly damaging 0.80
R9786:Tuba3b UTSW 6 145,564,482 (GRCm39) missense probably benign 0.19
X0023:Tuba3b UTSW 6 145,566,900 (GRCm39) missense probably damaging 1.00
Z1177:Tuba3b UTSW 6 145,567,018 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGGGACGACTCATTCAACACATTC -3'
(R):5'- TCAGATCGTCTACCATACAGACGCC -3'

Sequencing Primer
(F):5'- GTGTCTCGGAAAAGCCCAC -3'
(R):5'- CCGCACTGGGTTTGAATACAATG -3'
Posted On 2014-05-09