Incidental Mutation 'R8997:Tuba3b'
ID 684771
Institutional Source Beutler Lab
Gene Symbol Tuba3b
Ensembl Gene ENSMUSG00000067338
Gene Name tubulin, alpha 3B
Synonyms Tuba7, M[a]7
MMRRC Submission 068828-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R8997 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 145561689-145567203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 145566954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 398 (M398I)
Ref Sequence ENSEMBL: ENSMUSP00000084713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087445]
AlphaFold P05214
Predicted Effect possibly damaging
Transcript: ENSMUST00000087445
AA Change: M398I

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084713
Gene: ENSMUSG00000067338
AA Change: M398I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.1%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik G T 1: 11,615,491 (GRCm39) E155* probably null Het
Abhd17a T C 10: 80,422,470 (GRCm39) T71A probably benign Het
Adgrv1 GTT GT 13: 81,553,457 (GRCm39) probably null Het
Adra2a T C 19: 54,035,729 (GRCm39) S362P probably benign Het
Arid1a T A 4: 133,421,343 (GRCm39) N436Y unknown Het
Cma2 T A 14: 56,210,201 (GRCm39) C85S probably benign Het
Cntn1 G A 15: 92,132,347 (GRCm39) V148M probably damaging Het
Cntn3 A G 6: 102,181,023 (GRCm39) V724A probably damaging Het
Dennd1a C T 2: 37,690,497 (GRCm39) G868R probably benign Het
Disp2 C T 2: 118,617,467 (GRCm39) P154S probably damaging Het
Dlgap1 A G 17: 70,823,528 (GRCm39) D171G possibly damaging Het
Dpp4 A C 2: 62,164,958 (GRCm39) I697S probably damaging Het
Dync2h1 A T 9: 7,129,003 (GRCm39) D1837E probably benign Het
Fbxo39 T A 11: 72,208,466 (GRCm39) S273T probably damaging Het
Fgf5 A T 5: 98,423,411 (GRCm39) *265C probably null Het
Fscb A G 12: 64,520,758 (GRCm39) V236A possibly damaging Het
Greb1l A T 18: 10,510,747 (GRCm39) T614S probably damaging Het
Gtdc1 A T 2: 44,715,386 (GRCm39) N52K probably benign Het
Il6ra T C 3: 89,794,418 (GRCm39) D181G probably damaging Het
Inhba T G 13: 16,201,107 (GRCm39) V223G possibly damaging Het
Kcnma1 T C 14: 23,513,037 (GRCm39) probably benign Het
Kdm2b C A 5: 123,018,236 (GRCm39) W1068L probably null Het
Mdn1 T C 4: 32,773,275 (GRCm39) L5485P probably damaging Het
Muc16 T C 9: 18,518,763 (GRCm39) probably benign Het
Ncapd3 T C 9: 26,959,577 (GRCm39) F338L probably damaging Het
Negr1 T A 3: 156,721,918 (GRCm39) I164N probably damaging Het
Nek9 A T 12: 85,367,565 (GRCm39) C369S probably benign Het
Ninl C T 2: 150,801,816 (GRCm39) E151K probably damaging Het
Nphp1 A T 2: 127,595,982 (GRCm39) S494R possibly damaging Het
Nphp4 G A 4: 152,623,345 (GRCm39) R673H probably damaging Het
Obscn C T 11: 58,934,629 (GRCm39) probably benign Het
Osbpl8 T C 10: 111,091,575 (GRCm39) S82P probably benign Het
Pcdhgb1 C A 18: 37,814,133 (GRCm39) P208Q probably damaging Het
Pik3c2b A G 1: 133,018,517 (GRCm39) E988G possibly damaging Het
Rfc1 A T 5: 65,433,064 (GRCm39) M722K probably damaging Het
Rnf111 A T 9: 70,383,545 (GRCm39) N129K probably damaging Het
Sdccag8 C A 1: 176,783,374 (GRCm39) L628I probably damaging Het
Sgcz G T 8: 39,127,894 (GRCm39) D8E probably benign Het
Sgip1 T A 4: 102,790,781 (GRCm39) F254L Het
Shf A G 2: 122,187,728 (GRCm39) L26P probably damaging Het
Slc39a5 G A 10: 128,232,348 (GRCm39) A484V probably damaging Het
Slco4c1 T A 1: 96,795,672 (GRCm39) I129F probably damaging Het
Tbck A T 3: 132,440,106 (GRCm39) probably null Het
Tcstv7b A T 13: 120,702,515 (GRCm39) M104L probably benign Het
Teddm3 A T 16: 20,971,687 (GRCm39) V294E probably damaging Het
Tent4b T A 8: 88,979,023 (GRCm39) V508D probably benign Het
Treml1 A T 17: 48,667,466 (GRCm39) H117L probably damaging Het
Trip12 G T 1: 84,771,596 (GRCm39) T184N probably benign Het
Vcam1 T C 3: 115,910,977 (GRCm39) I474V probably benign Het
Wdsub1 A C 2: 59,688,977 (GRCm39) M415R probably damaging Het
Zfp14 A T 7: 29,737,600 (GRCm39) F462I probably damaging Het
Zfp846 G A 9: 20,505,726 (GRCm39) V529I probably benign Het
Zfp873 A G 10: 81,896,990 (GRCm39) T574A 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
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
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'- GGTTAAGCAGGGTCCACAGTTC -3'
(R):5'- ATTTCCAATGGTGGGGAAGG -3'

Sequencing Primer
(F):5'- AGGGTCCACAGTTCCCAGTTTAC -3'
(R):5'- TGTAAATGGACGGCCGC -3'
Posted On 2021-10-11