Incidental Mutation 'IGL03251:Tube1'
ID414935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tube1
Ensembl Gene ENSMUSG00000019845
Gene Nameepsilon-tubulin 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.908) question?
Stock #IGL03251
Quality Score
Status
Chromosome10
Chromosomal Location39133976-39152542 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 39134981 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019991] [ENSMUST00000063204] [ENSMUST00000124941] [ENSMUST00000125042] [ENSMUST00000134279] [ENSMUST00000135785] [ENSMUST00000139743] [ENSMUST00000149949] [ENSMUST00000213459]
Predicted Effect probably benign
Transcript: ENSMUST00000019991
SMART Domains Protein: ENSMUSP00000019991
Gene: ENSMUSG00000019845

DomainStartEndE-ValueType
Tubulin 55 277 1.08e-38 SMART
Tubulin_C 279 414 9.81e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063204
SMART Domains Protein: ENSMUSP00000063508
Gene: ENSMUSG00000051736

DomainStartEndE-ValueType
Pfam:UPF0731 2 80 4.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124941
SMART Domains Protein: ENSMUSP00000123540
Gene: ENSMUSG00000051736

DomainStartEndE-ValueType
Pfam:UPF0731 2 80 4.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125042
SMART Domains Protein: ENSMUSP00000121708
Gene: ENSMUSG00000051736

DomainStartEndE-ValueType
Pfam:UPF0731 2 48 3.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134279
SMART Domains Protein: ENSMUSP00000118858
Gene: ENSMUSG00000051736

DomainStartEndE-ValueType
Pfam:UPF0731 2 80 4.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135785
SMART Domains Protein: ENSMUSP00000118928
Gene: ENSMUSG00000051736

DomainStartEndE-ValueType
Pfam:UPF0731 2 80 4.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139743
SMART Domains Protein: ENSMUSP00000118545
Gene: ENSMUSG00000051736

DomainStartEndE-ValueType
Pfam:UPF0731 3 80 4.6e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149949
SMART Domains Protein: ENSMUSP00000121946
Gene: ENSMUSG00000051736

DomainStartEndE-ValueType
Pfam:UPF0731 2 80 4.8e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213237
Predicted Effect probably benign
Transcript: ENSMUST00000213459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217214
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 tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,982,237 probably benign Het
Cdkl2 A G 5: 92,033,726 I132T probably damaging Het
Ckap4 A T 10: 84,528,605 I198N probably damaging Het
Col6a3 C T 1: 90,810,176 R600H probably damaging Het
Dnah7a A G 1: 53,647,274 I239T probably benign Het
Ei24 A G 9: 36,780,109 *359R probably null Het
Elk3 A T 10: 93,254,821 probably null Het
Eps8l2 T A 7: 141,342,962 M46K probably damaging Het
Frem2 G T 3: 53,572,308 T1988N probably benign Het
Gm5431 T C 11: 48,894,721 K276E probably benign Het
Gm8220 T A 14: 44,288,272 C133S possibly damaging Het
Hectd2 T C 19: 36,585,526 L168P probably damaging Het
Hydin A T 8: 110,490,596 D1372V probably damaging Het
Isl1 T C 13: 116,305,449 S83G probably benign Het
Lrp1b A G 2: 40,600,267 I107T probably benign Het
Mlc1 A T 15: 88,974,731 V117D possibly damaging Het
Ndc1 A G 4: 107,380,659 E220G possibly damaging Het
Nlrp4b T A 7: 10,714,500 M210K probably benign Het
Olfr372 A T 8: 72,058,076 Y132F probably damaging Het
Plch1 T C 3: 63,784,002 E60G possibly damaging Het
Pld1 G A 3: 28,088,665 R674H probably benign Het
Ppp1r13l G A 7: 19,368,869 probably benign Het
Ppp2cb A T 8: 33,610,651 probably benign Het
Rchy1 G T 5: 91,962,643 A26D probably benign Het
Rrm1 T C 7: 102,457,206 F311L probably damaging Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc24a4 T C 12: 102,222,825 L173P probably damaging Het
Srgap1 T C 10: 121,804,921 probably null Het
Utp20 C T 10: 88,817,326 probably null Het
Vmn2r55 T C 7: 12,671,193 probably benign Het
Other mutations in Tube1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Tube1 APN 10 39145722 splice site probably benign
IGL01977:Tube1 APN 10 39135045 splice site probably benign
IGL02437:Tube1 APN 10 39140850 missense probably damaging 1.00
R0145:Tube1 UTSW 10 39145602 missense possibly damaging 0.89
R0544:Tube1 UTSW 10 39140945 splice site probably null
R0834:Tube1 UTSW 10 39134172 intron probably null
R1251:Tube1 UTSW 10 39134208 nonsense probably null
R1557:Tube1 UTSW 10 39145715 critical splice donor site probably null
R1607:Tube1 UTSW 10 39144766 missense possibly damaging 0.89
R2138:Tube1 UTSW 10 39147351 missense probably benign 0.04
R2367:Tube1 UTSW 10 39144919 missense probably damaging 1.00
R4209:Tube1 UTSW 10 39144934 splice site probably null
R4646:Tube1 UTSW 10 39142367 missense possibly damaging 0.63
R4840:Tube1 UTSW 10 39144846 missense probably benign 0.06
R5267:Tube1 UTSW 10 39144556 missense probably benign 0.00
R6331:Tube1 UTSW 10 39134101 missense probably benign 0.01
R7602:Tube1 UTSW 10 39142266 missense probably benign 0.33
R7778:Tube1 UTSW 10 39142298 missense probably benign 0.25
R7824:Tube1 UTSW 10 39142298 missense probably benign 0.25
R8218:Tube1 UTSW 10 39147379 missense possibly damaging 0.78
X0023:Tube1 UTSW 10 39144762 missense probably benign 0.00
Z1177:Tube1 UTSW 10 39149457 critical splice acceptor site probably null
Posted On2016-08-02