Incidental Mutation 'R6331:Tube1'
ID 510925
Institutional Source Beutler Lab
Gene Symbol Tube1
Ensembl Gene ENSMUSG00000019845
Gene Name tubulin, epsilon 1
Synonyms 2310061K05Rik
MMRRC Submission 044485-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R6331 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 39009972-39028538 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 39010097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 7 (V7I)
Ref Sequence ENSEMBL: ENSMUSP00000019991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019991] [ENSMUST00000063204] [ENSMUST00000124941] [ENSMUST00000125042] [ENSMUST00000134279] [ENSMUST00000135785] [ENSMUST00000213459] [ENSMUST00000149949] [ENSMUST00000139743]
AlphaFold Q9D6T1
Predicted Effect probably benign
Transcript: ENSMUST00000019991
AA Change: V7I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000019991
Gene: ENSMUSG00000019845
AA Change: V7I

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: ENSMUST00000213459
AA Change: V7I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154981
Predicted Effect probably benign
Transcript: ENSMUST00000149949
SMART Domains Protein: ENSMUSP00000121946
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 noncoding transcript
Transcript: ENSMUST00000213898
Meta Mutation Damage Score 0.0875 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,529,199 (GRCm39) D981G probably damaging Het
Abcc1 C A 16: 14,282,920 (GRCm39) A1132D probably damaging Het
Adamts12 A G 15: 11,241,519 (GRCm39) T364A probably damaging Het
Ahnak A T 19: 8,983,989 (GRCm39) M1758L probably benign Het
Ak9 T C 10: 41,258,825 (GRCm39) V774A probably damaging Het
Ash1l A G 3: 88,915,172 (GRCm39) E1934G probably benign Het
Atp2b2 C T 6: 113,774,092 (GRCm39) A341T probably benign Het
Bach2 G T 4: 32,238,816 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,175 (GRCm39) I1150T probably benign Het
Brd10 C T 19: 29,695,147 (GRCm39) V1449I probably benign Het
Ccdc102a T C 8: 95,638,144 (GRCm39) T241A probably benign Het
Chd5 G T 4: 152,466,865 (GRCm39) R1627S probably benign Het
Clint1 T C 11: 45,785,908 (GRCm39) S322P probably benign Het
Dapk1 T A 13: 60,877,256 (GRCm39) C498* probably null Het
Diaph3 T G 14: 87,103,976 (GRCm39) S803R probably damaging Het
Dmp1 T C 5: 104,354,991 (GRCm39) L10P probably damaging Het
Gcc2 T C 10: 58,107,287 (GRCm39) V741A probably benign Het
Gldn A G 9: 54,194,162 (GRCm39) M119V probably benign Het
Gucy1b1 A G 3: 81,941,718 (GRCm39) S574P possibly damaging Het
Hapln4 T A 8: 70,537,073 (GRCm39) probably benign Het
Hars1 A G 18: 36,904,385 (GRCm39) V209A probably benign Het
Htt T A 5: 35,053,231 (GRCm39) F2521L possibly damaging Het
Kif14 A G 1: 136,443,724 (GRCm39) D1299G probably null Het
Krt25 T A 11: 99,208,253 (GRCm39) E325V probably damaging Het
Lcmt1 T C 7: 122,977,405 (GRCm39) probably benign Het
Lrp1b A T 2: 40,693,221 (GRCm39) N3266K probably damaging Het
Mctp1 T A 13: 77,168,982 (GRCm39) probably null Het
Mtarc2 A G 1: 184,551,525 (GRCm39) S304P probably damaging Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Myom3 A G 4: 135,503,688 (GRCm39) N379S possibly damaging Het
Nbea A T 3: 55,908,037 (GRCm39) D1358E possibly damaging Het
Nod1 T C 6: 54,901,968 (GRCm39) E939G probably damaging Het
Obox1 A G 7: 15,289,294 (GRCm39) R70G probably benign Het
Or13c25 A G 4: 52,911,399 (GRCm39) Y132H probably damaging Het
Or13p3 A G 4: 118,567,144 (GRCm39) E180G probably benign Het
Or4a2 C T 2: 89,248,695 (GRCm39) G21S probably benign Het
Or5m12 T C 2: 85,734,560 (GRCm39) I279M probably benign Het
Otof T C 5: 30,529,279 (GRCm39) D1745G possibly damaging Het
Pklr A G 3: 89,044,662 (GRCm39) I47V probably damaging Het
Pms2 T A 5: 143,851,451 (GRCm39) S123T possibly damaging Het
Pnpla2 T C 7: 141,039,198 (GRCm39) S337P probably damaging Het
Ptgfrn A C 3: 100,952,936 (GRCm39) V766G possibly damaging Het
Ptpn11 T A 5: 121,282,716 (GRCm39) H419L probably damaging Het
Rims3 T A 4: 120,740,350 (GRCm39) V99E probably damaging Het
Rmc1 G A 18: 12,313,571 (GRCm39) R228H probably damaging Het
Samd9l A G 6: 3,376,361 (GRCm39) V300A probably damaging Het
Sdad1 T C 5: 92,451,789 (GRCm39) D144G probably damaging Het
Siglecg T C 7: 43,058,178 (GRCm39) Y22H possibly damaging Het
Slc39a1 A G 3: 90,159,588 (GRCm39) K305R possibly damaging Het
Slc5a4a A G 10: 76,014,034 (GRCm39) R414G probably damaging Het
Smg1 T C 7: 117,753,500 (GRCm39) probably benign Het
Tbc1d9b C T 11: 50,022,324 (GRCm39) A20V possibly damaging Het
Tgfb3 G T 12: 86,110,638 (GRCm39) D237E probably benign Het
Tle6 A G 10: 81,431,073 (GRCm39) S234P probably benign Het
Tnrc6b A G 15: 80,763,815 (GRCm39) N439S probably benign Het
Trim33 T C 3: 103,248,925 (GRCm39) S783P probably benign Het
Ttn A T 2: 76,632,698 (GRCm39) Y12373N probably damaging Het
Tufm T C 7: 126,088,410 (GRCm39) V265A probably benign Het
Usp32 T C 11: 84,877,402 (GRCm39) H1550R possibly damaging Het
Usp33 A T 3: 152,081,887 (GRCm39) M546L probably damaging Het
Uspl1 C A 5: 149,151,097 (GRCm39) Q752K probably benign Het
Vmn1r20 A G 6: 57,408,655 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,659,521 (GRCm39) F245S probably damaging Het
Vmn2r3 A G 3: 64,186,182 (GRCm39) S168P probably damaging Het
Wdr24 T G 17: 26,044,650 (GRCm39) D168E possibly damaging Het
Zfp646 C T 7: 127,482,853 (GRCm39) P1677S probably damaging Het
Other mutations in Tube1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Tube1 APN 10 39,021,718 (GRCm39) splice site probably benign
IGL01977:Tube1 APN 10 39,011,041 (GRCm39) splice site probably benign
IGL02437:Tube1 APN 10 39,016,846 (GRCm39) missense probably damaging 1.00
IGL03251:Tube1 APN 10 39,010,977 (GRCm39) splice site probably benign
R0145:Tube1 UTSW 10 39,021,598 (GRCm39) missense possibly damaging 0.89
R0544:Tube1 UTSW 10 39,016,941 (GRCm39) splice site probably null
R0834:Tube1 UTSW 10 39,010,168 (GRCm39) splice site probably null
R1251:Tube1 UTSW 10 39,010,204 (GRCm39) nonsense probably null
R1557:Tube1 UTSW 10 39,021,711 (GRCm39) critical splice donor site probably null
R1607:Tube1 UTSW 10 39,020,762 (GRCm39) missense possibly damaging 0.89
R2138:Tube1 UTSW 10 39,023,347 (GRCm39) missense probably benign 0.04
R2367:Tube1 UTSW 10 39,020,915 (GRCm39) missense probably damaging 1.00
R4209:Tube1 UTSW 10 39,020,930 (GRCm39) splice site probably null
R4646:Tube1 UTSW 10 39,018,363 (GRCm39) missense possibly damaging 0.63
R4840:Tube1 UTSW 10 39,020,842 (GRCm39) missense probably benign 0.06
R5267:Tube1 UTSW 10 39,020,552 (GRCm39) missense probably benign 0.00
R7602:Tube1 UTSW 10 39,018,262 (GRCm39) missense probably benign 0.33
R7778:Tube1 UTSW 10 39,018,294 (GRCm39) missense probably benign 0.25
R7824:Tube1 UTSW 10 39,018,294 (GRCm39) missense probably benign 0.25
R8218:Tube1 UTSW 10 39,023,375 (GRCm39) missense possibly damaging 0.78
R8412:Tube1 UTSW 10 39,021,657 (GRCm39) missense possibly damaging 0.95
R9039:Tube1 UTSW 10 39,011,017 (GRCm39) missense probably damaging 1.00
X0023:Tube1 UTSW 10 39,020,758 (GRCm39) missense probably benign 0.00
Z1177:Tube1 UTSW 10 39,025,453 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGTCCTGGCCGTAAAGAAAC -3'
(R):5'- CAAACCTCATGTGAACTCTGGC -3'

Sequencing Primer
(F):5'- CAAGGGCATTACGACATTGGCTAC -3'
(R):5'- TCATGTGAACTCTGGCAGGCC -3'
Posted On 2018-04-02