Incidental Mutation 'R7734:Tubb2a'
ID 596083
Institutional Source Beutler Lab
Gene Symbol Tubb2a
Ensembl Gene ENSMUSG00000058672
Gene Name tubulin, beta 2A class IIA
Synonyms
MMRRC Submission 045790-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7734 (G1)
Quality Score 96.0077
Status Not validated
Chromosome 13
Chromosomal Location 34258261-34261991 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34258776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 338 (S338N)
Ref Sequence ENSEMBL: ENSMUSP00000060246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040656] [ENSMUST00000056427]
AlphaFold Q7TMM9
Predicted Effect probably benign
Transcript: ENSMUST00000040656
SMART Domains Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Pfam:Hydrolase_4 57 208 1.1e-10 PFAM
Pfam:Abhydrolase_1 61 205 2.8e-22 PFAM
Pfam:Abhydrolase_5 62 273 3.9e-20 PFAM
Pfam:Abhydrolase_6 63 285 6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056427
AA Change: S338N

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672
AA Change: S338N

DomainStartEndE-ValueType
Tubulin 47 244 1.64e-65 SMART
Tubulin_C 246 383 2.39e-49 SMART
low complexity region 431 444 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 T C 9: 69,398,764 (GRCm39) Y333H probably benign Het
Arid1a A T 4: 133,408,679 (GRCm39) F1558I unknown Het
Aste1 A G 9: 105,274,678 (GRCm39) D306G probably damaging Het
Atp2a2 A G 5: 122,596,590 (GRCm39) V843A possibly damaging Het
Atrip T A 9: 108,894,574 (GRCm39) H451L probably benign Het
Cdc42bpb T C 12: 111,295,664 (GRCm39) D200G probably damaging Het
Ceacam19 A C 7: 19,620,520 (GRCm39) M37R probably benign Het
Cemip G A 7: 83,606,872 (GRCm39) R782* probably null Het
Cpe A T 8: 65,070,654 (GRCm39) I197N probably benign Het
Csmd2 C A 4: 128,445,850 (GRCm39) P3307T Het
Cyp4a12b C A 4: 115,268,937 (GRCm39) Q20K possibly damaging Het
Dcaf1 T C 9: 106,715,878 (GRCm39) Y332H probably damaging Het
Dclk3 A G 9: 111,298,163 (GRCm39) H569R probably damaging Het
Dcp1b A G 6: 119,192,244 (GRCm39) S387G probably benign Het
Ddx24 A G 12: 103,383,819 (GRCm39) M590T possibly damaging Het
Dixdc1 T G 9: 50,613,268 (GRCm39) Q229P probably damaging Het
Dnase1l3 T C 14: 7,977,144 (GRCm38) R181G probably benign Het
Dzip1l A T 9: 99,549,735 (GRCm39) D735V probably damaging Het
Edem3 T C 1: 151,694,336 (GRCm39) S890P probably benign Het
Fuom A G 7: 139,679,455 (GRCm39) L155P unknown Het
Gm6408 C A 5: 146,421,160 (GRCm39) S263* probably null Het
Helz C G 11: 107,576,248 (GRCm39) S1814R unknown Het
Hrc T C 7: 44,986,100 (GRCm39) L417P probably benign Het
Igdcc4 A C 9: 65,039,035 (GRCm39) H894P probably damaging Het
Lgr6 C A 1: 134,930,981 (GRCm39) V296L probably damaging Het
Map3k4 T A 17: 12,482,998 (GRCm39) Y573F probably damaging Het
Mest T C 6: 30,746,299 (GRCm39) Y296H unknown Het
Mettl21a C T 1: 64,647,288 (GRCm39) V90M probably damaging Het
Mfsd4b1 A T 10: 39,883,374 (GRCm39) N25K probably damaging Het
Mmd T A 11: 90,167,579 (GRCm39) F203I probably damaging Het
Myo15a G A 11: 60,401,108 (GRCm39) V3028M probably benign Het
Nlrp1a T A 11: 70,998,826 (GRCm39) N859I unknown Het
Nrcam T C 12: 44,584,034 (GRCm39) L36P possibly damaging Het
Nup107 C A 10: 117,593,917 (GRCm39) E759* probably null Het
Or14a259 A G 7: 86,013,476 (GRCm39) I23T not run Het
Pcdh7 T G 5: 57,876,976 (GRCm39) I177S probably damaging Het
Pde6a T C 18: 61,365,938 (GRCm39) I221T probably benign Het
Ptpn13 A T 5: 103,709,828 (GRCm39) N1497I probably damaging Het
Rmc1 T A 18: 12,322,320 (GRCm39) I591N possibly damaging Het
Rpl4 T A 9: 64,084,661 (GRCm39) H245Q probably benign Het
Rsf1 C CCACGGCGGG 7: 97,229,115 (GRCm39) probably benign Het
Scara5 A G 14: 65,968,600 (GRCm39) D291G possibly damaging Het
Septin14 T A 5: 129,760,583 (GRCm39) I422L probably benign Het
Serpina1e T C 12: 103,917,151 (GRCm39) K173E probably benign Het
Slc5a1 C T 5: 33,318,279 (GRCm39) T644I probably benign Het
Slc6a13 A T 6: 121,314,334 (GRCm39) T590S probably benign Het
Smarca4 C T 9: 21,578,658 (GRCm39) T938I possibly damaging Het
Stxbp1 A T 2: 32,691,832 (GRCm39) D453E probably benign Het
Tcf12 C A 9: 71,829,943 (GRCm39) V173L probably benign Het
Tenm3 A G 8: 49,099,368 (GRCm39) C146R probably damaging Het
Trim11 T C 11: 58,869,180 (GRCm39) C39R probably damaging Het
Trim37 A G 11: 87,068,821 (GRCm39) Y389C probably damaging Het
Ttll8 C T 15: 88,798,368 (GRCm39) G789D probably damaging Het
Ulk2 G A 11: 61,744,127 (GRCm39) Q50* probably null Het
Urgcp T C 11: 5,666,406 (GRCm39) D687G probably benign Het
Usp13 C T 3: 32,892,054 (GRCm39) H78Y probably benign Het
Vmn2r100 T A 17: 19,742,296 (GRCm39) D223E probably benign Het
Vwc2 G A 11: 11,065,929 (GRCm39) A6T possibly damaging Het
Other mutations in Tubb2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01683:Tubb2a APN 13 34,260,530 (GRCm39) critical splice donor site probably null
R0233:Tubb2a UTSW 13 34,259,325 (GRCm39) missense possibly damaging 0.50
R0233:Tubb2a UTSW 13 34,259,325 (GRCm39) missense possibly damaging 0.50
R0345:Tubb2a UTSW 13 34,260,620 (GRCm39) missense probably benign
R2033:Tubb2a UTSW 13 34,259,439 (GRCm39) missense probably damaging 1.00
R3732:Tubb2a UTSW 13 34,259,247 (GRCm39) missense probably damaging 1.00
R3836:Tubb2a UTSW 13 34,259,294 (GRCm39) missense probably benign 0.30
R3837:Tubb2a UTSW 13 34,259,294 (GRCm39) missense probably benign 0.30
R3839:Tubb2a UTSW 13 34,259,294 (GRCm39) missense probably benign 0.30
R4879:Tubb2a UTSW 13 34,258,572 (GRCm39) missense probably benign 0.02
R4936:Tubb2a UTSW 13 34,259,240 (GRCm39) nonsense probably null
R5537:Tubb2a UTSW 13 34,259,434 (GRCm39) missense probably benign 0.07
R5889:Tubb2a UTSW 13 34,259,451 (GRCm39) missense possibly damaging 0.92
R6102:Tubb2a UTSW 13 34,259,326 (GRCm39) missense probably benign 0.00
R6475:Tubb2a UTSW 13 34,259,442 (GRCm39) missense possibly damaging 0.91
R7206:Tubb2a UTSW 13 34,259,505 (GRCm39) missense possibly damaging 0.80
R7254:Tubb2a UTSW 13 34,258,515 (GRCm39) missense probably damaging 1.00
R7260:Tubb2a UTSW 13 34,259,397 (GRCm39) missense probably damaging 1.00
R7631:Tubb2a UTSW 13 34,259,227 (GRCm39) missense probably damaging 0.99
R7815:Tubb2a UTSW 13 34,258,962 (GRCm39) missense probably benign 0.10
R7850:Tubb2a UTSW 13 34,258,554 (GRCm39) missense probably damaging 1.00
R9091:Tubb2a UTSW 13 34,258,578 (GRCm39) missense probably damaging 1.00
R9170:Tubb2a UTSW 13 34,260,628 (GRCm39) missense probably benign
R9270:Tubb2a UTSW 13 34,258,578 (GRCm39) missense probably damaging 1.00
R9799:Tubb2a UTSW 13 34,260,607 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACCAGTGCAGGAAAGCCTTG -3'
(R):5'- TGCACTTCTTCATGCCAGG -3'

Sequencing Primer
(F):5'- AAAGCCTTGCGCCGGAAC -3'
(R):5'- AGGCTTTGCACCTCTGACCAG -3'
Posted On 2019-11-12