Incidental Mutation 'IGL02535:Tubb1'
ID297473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubb1
Ensembl Gene ENSMUSG00000016255
Gene Nametubulin, beta 1 class VI
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.219) question?
Stock #IGL02535
Quality Score
Status
Chromosome2
Chromosomal Location174450695-174457882 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 174457566 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 347 (N347S)
Ref Sequence ENSEMBL: ENSMUSP00000016399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016396] [ENSMUST00000016399]
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: N347S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: N347S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153132
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T G 15: 8,174,838 V65G probably damaging Het
Abcc9 G T 6: 142,628,426 D993E probably benign Het
Acap1 T C 11: 69,882,694 N430D probably benign Het
Actl11 T A 9: 107,929,937 D486E possibly damaging Het
Adh6a A G 3: 138,327,390 N281D probably benign Het
Apon A T 10: 128,254,954 E167V probably damaging Het
Bahcc1 T A 11: 120,287,536 M2307K possibly damaging Het
Cdca3 A G 6: 124,830,558 T10A probably damaging Het
D330045A20Rik A T X: 139,492,647 K217I probably damaging Het
Dusp16 T C 6: 134,718,827 E347G probably benign Het
Dysf A T 6: 84,149,697 Y1298F possibly damaging Het
F12 T C 13: 55,426,344 D25G possibly damaging Het
F5 T A 1: 164,198,733 S1625T probably damaging Het
Fbxl2 T C 9: 113,979,507 E372G probably benign Het
Flrt1 T C 19: 7,096,733 I150V probably benign Het
Grin2b T A 6: 135,779,369 I453F possibly damaging Het
Hivep2 C T 10: 14,139,497 R1803C probably damaging Het
Il33 A G 19: 29,952,747 N81D probably benign Het
Ipo7 T C 7: 110,054,026 Y977H probably damaging Het
Lyst T C 13: 13,650,342 V1514A probably benign Het
Map1a C A 2: 121,302,177 S920* probably null Het
Nlrp9c T C 7: 26,372,097 N862S probably damaging Het
Olfr1054 A G 2: 86,332,675 M227T probably damaging Het
Olfr1413 C A 1: 92,573,221 Q17K probably benign Het
Olfr389 A G 11: 73,776,616 V237A probably benign Het
P2rx2 T A 5: 110,342,353 T134S probably benign Het
Papolg T C 11: 23,890,245 D77G probably benign Het
Pkd1l3 A T 8: 109,640,890 R1240* probably null Het
Slc22a8 A T 19: 8,610,203 T514S probably benign Het
Slc39a5 T C 10: 128,399,330 D136G probably benign Het
Tnn T C 1: 160,122,652 probably null Het
Trav8d-2 A T 14: 53,042,684 S44C probably damaging Het
Ubap1 C T 4: 41,379,667 R294* probably null Het
Ube2o C T 11: 116,541,765 V792M probably benign Het
Usp13 A G 3: 32,837,926 S85G probably benign Het
Vmac C T 17: 56,715,550 M61I probably benign Het
Vmn1r54 T A 6: 90,269,278 I58N possibly damaging Het
Zmym5 A G 14: 56,797,666 probably null Het
Other mutations in Tubb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01877:Tubb1 APN 2 174456898 missense possibly damaging 0.87
IGL02534:Tubb1 APN 2 174455669 missense probably benign 0.04
IGL03404:Tubb1 APN 2 174457448 missense probably damaging 1.00
R0117:Tubb1 UTSW 2 174457784 missense probably benign 0.00
R0666:Tubb1 UTSW 2 174457755 missense probably damaging 0.98
R0939:Tubb1 UTSW 2 174455756 missense probably damaging 1.00
R1163:Tubb1 UTSW 2 174457739 missense probably benign
R1317:Tubb1 UTSW 2 174456896 missense probably benign 0.16
R1458:Tubb1 UTSW 2 174450803 critical splice donor site probably null
R1574:Tubb1 UTSW 2 174457422 missense probably benign
R1574:Tubb1 UTSW 2 174457422 missense probably benign
R1658:Tubb1 UTSW 2 174456623 missense probably damaging 1.00
R1751:Tubb1 UTSW 2 174456896 missense probably benign 0.16
R1761:Tubb1 UTSW 2 174456896 missense probably benign 0.16
R1869:Tubb1 UTSW 2 174456689 missense probably benign 0.00
R1969:Tubb1 UTSW 2 174455691 missense possibly damaging 0.92
R2412:Tubb1 UTSW 2 174457110 missense possibly damaging 0.71
R4249:Tubb1 UTSW 2 174455733 missense probably null 0.93
R4415:Tubb1 UTSW 2 174457673 missense probably benign 0.12
R5154:Tubb1 UTSW 2 174456864 missense probably benign 0.19
R5276:Tubb1 UTSW 2 174457424 missense probably damaging 0.97
R5730:Tubb1 UTSW 2 174457769 missense probably benign
R6008:Tubb1 UTSW 2 174457774 missense probably benign 0.00
R6719:Tubb1 UTSW 2 174457394 missense probably damaging 1.00
R7422:Tubb1 UTSW 2 174457032 missense possibly damaging 0.76
X0063:Tubb1 UTSW 2 174457295 missense probably benign 0.00
Posted On2015-04-16