Incidental Mutation 'R9331:Tubb1'
ID 706829
Institutional Source Beutler Lab
Gene Symbol Tubb1
Ensembl Gene ENSMUSG00000016255
Gene Name tubulin, beta 1 class VI
Synonyms 2810484G07Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R9331 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 174292488-174299675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 174297472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 27 (E27G)
Ref Sequence ENSEMBL: ENSMUSP00000016399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016399]
AlphaFold A2AQ07
Predicted Effect probably damaging
Transcript: ENSMUST00000016399
AA Change: E27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: E27G

DomainStartEndE-ValueType
Tubulin 47 244 3.42e-68 SMART
Tubulin_C 246 383 1.84e-41 SMART
low complexity region 433 448 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,616,324 (GRCm39) E922G probably benign Het
Abca8a A G 11: 109,917,154 (GRCm39) L1615P probably damaging Het
Actrt3 T C 3: 30,652,050 (GRCm39) D348G probably damaging Het
Adam3 A G 8: 25,177,951 (GRCm39) M654T probably benign Het
Adamts8 A T 9: 30,862,770 (GRCm39) H325L probably damaging Het
Agpat2 A G 2: 26,487,318 (GRCm39) Y72H probably benign Het
Ap3m1 A G 14: 21,095,666 (GRCm39) Y55H possibly damaging Het
Cacna1a C T 8: 85,142,446 (GRCm39) A58V probably damaging Het
Cacna1c C T 6: 119,084,909 (GRCm39) V10I Het
Ccnt1 T A 15: 98,441,097 (GRCm39) K724* probably null Het
Cd72 T A 4: 43,454,320 (GRCm39) T38S possibly damaging Het
Crispld1 T A 1: 17,832,454 (GRCm39) I480K probably damaging Het
Diaph3 G T 14: 87,378,461 (GRCm39) Y30* probably null Het
Ei24 A G 9: 36,701,217 (GRCm39) I34T possibly damaging Het
Fdxacb1 G A 9: 50,681,511 (GRCm39) S144N probably damaging Het
Fgf21 G T 7: 45,263,614 (GRCm39) Q155K probably benign Het
Gdap1l1 A T 2: 163,295,664 (GRCm39) R310S probably benign Het
Gm44501 G A 17: 40,889,620 (GRCm39) V45I probably benign Het
Gne A G 4: 44,066,845 (GRCm39) L56P probably damaging Het
Hcn4 T C 9: 58,767,705 (GRCm39) S1089P probably damaging Het
Hexim1 C T 11: 103,007,974 (GRCm39) T76M probably damaging Het
Hkdc1 A T 10: 62,236,114 (GRCm39) L476* probably null Het
Hoxd8 CGCGGCGGCGGCGGCGGC CGCGGCGGCGGCGGC 2: 74,535,942 (GRCm39) probably benign Het
Hyal4 A T 6: 24,765,866 (GRCm39) I407L probably damaging Het
Ighv5-9-1 T C 12: 113,699,878 (GRCm39) Y78C possibly damaging Het
Kif20a T A 18: 34,762,562 (GRCm39) C478* probably null Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Ltbp2 C T 12: 84,922,965 (GRCm39) R34Q probably benign Het
Mccc1 A G 3: 36,014,238 (GRCm39) V693A probably damaging Het
Muc5b C A 7: 141,411,475 (GRCm39) Q1474K unknown Het
Nos1 T C 5: 118,038,589 (GRCm39) V474A possibly damaging Het
Nprl2 G A 9: 107,421,955 (GRCm39) V244M probably damaging Het
Npy2r A G 3: 82,448,068 (GRCm39) S236P probably damaging Het
Or8b9 G A 9: 37,766,710 (GRCm39) V199I probably benign Het
Or8c10 A G 9: 38,279,003 (GRCm39) S44G probably benign Het
P2rx7 T C 5: 122,818,961 (GRCm39) L461P probably benign Het
Pacc1 T C 1: 191,077,318 (GRCm39) probably null Het
Pde12 T C 14: 26,389,828 (GRCm39) I294V probably benign Het
Plcl1 T C 1: 55,736,030 (GRCm39) L457P possibly damaging Het
Plekho2 C A 9: 65,463,866 (GRCm39) A328S probably benign Het
Polg T C 7: 79,108,148 (GRCm39) K556E probably damaging Het
Prl7a2 A G 13: 27,849,062 (GRCm39) S76P probably damaging Het
Ptar1 T A 19: 23,671,707 (GRCm39) C37S probably benign Het
Pwwp2b G A 7: 138,835,357 (GRCm39) G266D probably damaging Het
Pygm T C 19: 6,448,129 (GRCm39) F812L probably damaging Het
Smarcc2 A T 10: 128,323,310 (GRCm39) T982S unknown Het
Spata31e2 T C 1: 26,722,790 (GRCm39) R797G probably benign Het
Syne1 C G 10: 5,073,666 (GRCm39) V1226L probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmub1 T C 5: 24,650,985 (GRCm39) T225A probably damaging Het
Trmo A C 4: 46,387,642 (GRCm39) C59W possibly damaging Het
Ttc6 C A 12: 57,720,509 (GRCm39) A925D probably damaging Het
Unkl G A 17: 25,450,723 (GRCm39) C503Y probably damaging Het
Usp40 A G 1: 87,901,828 (GRCm39) I785T probably damaging Het
Vmn2r32 G A 7: 7,467,402 (GRCm39) Q709* probably null Het
Xaf1 T C 11: 72,197,470 (GRCm39) S149P probably damaging Het
Ythdc2 T A 18: 44,970,499 (GRCm39) V271E possibly damaging Het
Zfp386 C T 12: 116,011,433 (GRCm39) probably benign Het
Zfp456 T A 13: 67,514,389 (GRCm39) E439V probably damaging Het
Other mutations in Tubb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01877:Tubb1 APN 2 174,298,691 (GRCm39) missense possibly damaging 0.87
IGL02534:Tubb1 APN 2 174,297,462 (GRCm39) missense probably benign 0.04
IGL02535:Tubb1 APN 2 174,299,359 (GRCm39) missense probably benign 0.00
IGL03404:Tubb1 APN 2 174,299,241 (GRCm39) missense probably damaging 1.00
R0117:Tubb1 UTSW 2 174,299,577 (GRCm39) missense probably benign 0.00
R0666:Tubb1 UTSW 2 174,299,548 (GRCm39) missense probably damaging 0.98
R0939:Tubb1 UTSW 2 174,297,549 (GRCm39) missense probably damaging 1.00
R1163:Tubb1 UTSW 2 174,299,532 (GRCm39) missense probably benign
R1317:Tubb1 UTSW 2 174,298,689 (GRCm39) missense probably benign 0.16
R1458:Tubb1 UTSW 2 174,292,596 (GRCm39) critical splice donor site probably null
R1574:Tubb1 UTSW 2 174,299,215 (GRCm39) missense probably benign
R1574:Tubb1 UTSW 2 174,299,215 (GRCm39) missense probably benign
R1658:Tubb1 UTSW 2 174,298,416 (GRCm39) missense probably damaging 1.00
R1751:Tubb1 UTSW 2 174,298,689 (GRCm39) missense probably benign 0.16
R1761:Tubb1 UTSW 2 174,298,689 (GRCm39) missense probably benign 0.16
R1869:Tubb1 UTSW 2 174,298,482 (GRCm39) missense probably benign 0.00
R1969:Tubb1 UTSW 2 174,297,484 (GRCm39) missense possibly damaging 0.92
R2412:Tubb1 UTSW 2 174,298,903 (GRCm39) missense possibly damaging 0.71
R4249:Tubb1 UTSW 2 174,297,526 (GRCm39) missense probably null 0.93
R4415:Tubb1 UTSW 2 174,299,466 (GRCm39) missense probably benign 0.12
R5154:Tubb1 UTSW 2 174,298,657 (GRCm39) missense probably benign 0.19
R5276:Tubb1 UTSW 2 174,299,217 (GRCm39) missense probably damaging 0.97
R5730:Tubb1 UTSW 2 174,299,562 (GRCm39) missense probably benign
R6008:Tubb1 UTSW 2 174,299,567 (GRCm39) missense probably benign 0.00
R6719:Tubb1 UTSW 2 174,299,187 (GRCm39) missense probably damaging 1.00
R7422:Tubb1 UTSW 2 174,298,825 (GRCm39) missense possibly damaging 0.76
R9084:Tubb1 UTSW 2 174,299,197 (GRCm39) missense possibly damaging 0.67
R9498:Tubb1 UTSW 2 174,299,403 (GRCm39) missense probably benign 0.09
X0063:Tubb1 UTSW 2 174,299,088 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTATGCACAGGAGCCAACTC -3'
(R):5'- ACTCCATTCTTTCACACTAGGG -3'

Sequencing Primer
(F):5'- CACATGCAAGAGTGTGTACAC -3'
(R):5'- ACACTAGGGTCATCTTCTCTGC -3'
Posted On 2022-04-18