Incidental Mutation 'IGL01877:Tubb1'
ID178923
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: 0.215) question?
Stock #IGL01877
Quality Score
Status
Chromosome2
Chromosomal Location174450695-174457882 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 174456898 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 124 (S124R)
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 possibly damaging
Transcript: ENSMUST00000016399
AA Change: S124R

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: S124R

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
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 40,795,945 E364G probably benign Het
Aknad1 C T 3: 108,775,090 P523S probably damaging Het
Alms1 T A 6: 85,622,411 N1875K possibly damaging Het
Ano4 A T 10: 89,025,070 Y179* probably null Het
Cacna1h A T 17: 25,388,050 F965I probably damaging Het
Cfh T A 1: 140,100,829 I1043F probably damaging Het
Galnt12 T A 4: 47,112,315 probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpr21 A C 2: 37,518,081 N213T probably benign Het
Hexa T C 9: 59,563,880 probably benign Het
Itga6 T C 2: 71,838,280 I521T probably benign Het
Jmjd6 G T 11: 116,842,693 Q53K probably benign Het
Lrmp T C 6: 145,147,799 S94P probably damaging Het
Mylk3 T C 8: 85,359,042 T225A possibly damaging Het
Pcgf2 A G 11: 97,692,533 V79A probably damaging Het
Setd1b T C 5: 123,148,448 M519T unknown Het
Slco1c1 T C 6: 141,555,153 S454P probably damaging Het
Umodl1 A G 17: 30,982,320 I408V probably benign Het
Unc13b T C 4: 43,249,583 probably null Het
Vmn2r80 A G 10: 79,171,500 probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Yipf4 T G 17: 74,492,388 L41R possibly damaging Het
Zfyve26 A G 12: 79,287,444 S267P probably damaging Het
Other mutations in Tubb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02534:Tubb1 APN 2 174455669 missense probably benign 0.04
IGL02535:Tubb1 APN 2 174457566 missense probably benign 0.00
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 On2014-05-07