Incidental Mutation 'R9498:Tubb1'
ID 717349
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 # R9498 (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 174299403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 362 (N362D)
Ref Sequence ENSEMBL: ENSMUSP00000016399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016396] [ENSMUST00000016399]
AlphaFold A2AQ07
Predicted Effect probably benign
Transcript: ENSMUST00000016396
SMART Domains Protein: ENSMUSP00000016396
Gene: ENSMUSG00000016252

DomainStartEndE-ValueType
Pfam:ATP-synt_Eps 2 51 7.8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000016399
AA Change: N362D

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: N362D

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,182,989 (GRCm39) Y160H probably damaging Het
Abca17 T C 17: 24,484,480 (GRCm39) Y1594C probably damaging Het
Abca8a T C 11: 109,977,374 (GRCm39) I128M probably damaging Het
Abhd12b A G 12: 70,210,237 (GRCm39) I138V probably benign Het
Adcy8 G A 15: 64,792,045 (GRCm39) L304F possibly damaging Het
Alb T C 5: 90,617,362 (GRCm39) F354L probably damaging Het
Ampd3 T A 7: 110,409,053 (GRCm39) S688R probably damaging Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Areg T G 5: 91,294,553 (GRCm39) L237R probably damaging Het
Arhgef11 A G 3: 87,640,484 (GRCm39) S1243G probably benign Het
B3glct A G 5: 149,673,894 (GRCm39) probably null Het
Casp7 T A 19: 56,424,767 (GRCm39) L162Q probably damaging Het
Cdh20 A G 1: 109,976,635 (GRCm39) N100S probably benign Het
Cdh22 G T 2: 164,954,490 (GRCm39) T677N probably damaging Het
Cmtm5 T A 14: 55,174,205 (GRCm39) S31T probably benign Het
Col6a3 T A 1: 90,713,650 (GRCm39) R2295* probably null Het
Cpa6 T C 1: 10,479,546 (GRCm39) N229S possibly damaging Het
Dagla G T 19: 10,232,218 (GRCm39) Y489* probably null Het
Dnah7b A G 1: 46,253,564 (GRCm39) K1823R probably benign Het
Dnah9 T C 11: 65,739,199 (GRCm39) N4180D probably damaging Het
Dsg3 A C 18: 20,658,278 (GRCm39) E296D probably damaging Het
Ednra A T 8: 78,446,934 (GRCm39) L48Q probably benign Het
Esco2 T C 14: 66,068,752 (GRCm39) D186G probably benign Het
Foxj2 A G 6: 122,819,792 (GRCm39) D560G probably damaging Het
Frmd3 G A 4: 74,038,055 (GRCm39) M105I probably benign Het
Gria4 A T 9: 4,503,560 (GRCm39) probably null Het
Hrob T C 11: 102,150,167 (GRCm39) S410P probably benign Het
Ifi204 T C 1: 173,583,537 (GRCm39) E227G possibly damaging Het
Lgalsl T A 11: 20,779,439 (GRCm39) I69F possibly damaging Het
Myo15b A G 11: 115,770,784 (GRCm39) T1588A Het
Myo9a A G 9: 59,734,466 (GRCm39) S683G probably damaging Het
Ncam2 T C 16: 81,309,887 (GRCm39) I459T probably benign Het
Nedd4l T C 18: 65,294,723 (GRCm39) probably null Het
Nfic T C 10: 81,256,502 (GRCm39) E54G probably damaging Het
Nrxn1 T C 17: 90,897,397 (GRCm39) T920A probably damaging Het
Obsl1 C T 1: 75,467,484 (GRCm39) C1430Y probably damaging Het
Or8k17 A G 2: 86,066,838 (GRCm39) F107L probably damaging Het
Pcbp2 G A 15: 102,406,941 (GRCm39) G357D probably benign Het
Pcdhb1 A G 18: 37,398,516 (GRCm39) S156G probably damaging Het
Pcdhb15 A T 18: 37,606,890 (GRCm39) R41* probably null Het
Pde1b A T 15: 103,435,489 (GRCm39) D448V probably benign Het
Pex7 G A 10: 19,762,859 (GRCm39) R227* probably null Het
Pkp1 T A 1: 135,817,820 (GRCm39) Y105F probably benign Het
Plbd1 T C 6: 136,589,244 (GRCm39) T529A possibly damaging Het
Plxnc1 C G 10: 94,649,004 (GRCm39) Q1258H possibly damaging Het
Prr36 T A 8: 4,263,291 (GRCm39) T792S unknown Het
Rasgrf1 A T 9: 89,826,921 (GRCm39) T177S probably benign Het
Rbm14 A G 19: 4,853,495 (GRCm39) S296P probably benign Het
Rfx8 T C 1: 39,724,674 (GRCm39) Y229C probably damaging Het
Rgs3 A T 4: 62,575,412 (GRCm39) S600C probably damaging Het
Slc29a4 T A 5: 142,704,233 (GRCm39) S296T probably benign Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Srsf6 A G 2: 162,774,009 (GRCm39) E68G probably benign Het
Syt13 A T 2: 92,781,749 (GRCm39) N317Y possibly damaging Het
Tars2 A T 3: 95,647,553 (GRCm39) L701Q probably damaging Het
Tbc1d16 A T 11: 119,048,681 (GRCm39) V324E probably damaging Het
Tbc1d21 A G 9: 58,273,924 (GRCm39) L84P probably damaging Het
Trappc6b A G 12: 59,097,127 (GRCm39) M65T possibly damaging Het
Tubgcp5 C T 7: 55,463,233 (GRCm39) T475M possibly damaging Het
Ugt2b37 T C 5: 87,402,244 (GRCm39) K129R probably benign Het
Vmn2r55 A G 7: 12,404,812 (GRCm39) V197A probably damaging Het
Wfdc3 G A 2: 164,584,997 (GRCm39) L4F possibly damaging Het
Zfp141 T A 7: 42,125,770 (GRCm39) Q234L probably benign Het
Zfp850 T C 7: 27,689,275 (GRCm39) K311R possibly 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
R9331:Tubb1 UTSW 2 174,297,472 (GRCm39) missense probably damaging 1.00
X0063:Tubb1 UTSW 2 174,299,088 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACAGATGTTCGATGCCCGC -3'
(R):5'- TTGTTGGTACTCAGACACCAG -3'

Sequencing Primer
(F):5'- AACATCATGGCTGCCTGTGAC -3'
(R):5'- AGGTCATGGATATCACTCTCAGC -3'
Posted On 2022-07-18