Incidental Mutation 'IGL03091:Tuba8'
ID418392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tuba8
Ensembl Gene ENSMUSG00000030137
Gene Nametubulin, alpha 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03091
Quality Score
Status
Chromosome6
Chromosomal Location121210696-121226854 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 121220444 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 22 (E22K)
Ref Sequence ENSEMBL: ENSMUSP00000032233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032233]
Predicted Effect probably damaging
Transcript: ENSMUST00000032233
AA Change: E22K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: E22K

DomainStartEndE-ValueType
Tubulin 49 246 2.17e-79 SMART
Tubulin_C 248 393 3.76e-56 SMART
low complexity region 441 448 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124853
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the tubulin family of cytoskeletal proteins that form the integral component of microtubules. This gene is preferentially expressed in heart, skeletal muscle and testis. The encoded protein may play a role in liver tumorigenesis in mice. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele appear neurologically normal, progress to adulthood and exhibit normal fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 A T 4: 126,459,189 Y314N probably damaging Het
Aknad1 A G 3: 108,751,903 T78A possibly damaging Het
Arhgap33 G A 7: 30,528,293 P494S probably damaging Het
Babam2 T A 5: 31,785,678 probably null Het
Ces2g T C 8: 104,964,754 V174A probably damaging Het
Chd1l G A 3: 97,563,547 R811C probably damaging Het
Crot A T 5: 8,966,897 H598Q probably benign Het
Dtx2 C T 5: 136,012,374 S211L probably damaging Het
Duox2 T G 2: 122,289,474 M852L probably benign Het
Fmc1 G T 6: 38,539,235 S72I probably damaging Het
Fut1 T C 7: 45,619,527 C302R probably damaging Het
Gm6401 T C 14: 41,964,658 T184A possibly damaging Het
Gsdma2 C T 11: 98,652,002 T29I probably damaging Het
Lgi2 C A 5: 52,563,965 probably null Het
Lipe A G 7: 25,380,755 L926P probably damaging Het
Lrp1 T A 10: 127,559,124 I2511F probably benign Het
Med10 T C 13: 69,815,697 probably benign Het
Nbea A G 3: 56,085,304 S294P probably damaging Het
Neb T A 2: 52,271,312 H2156L probably benign Het
Neo1 A T 9: 58,978,668 N335K probably damaging Het
Nox3 G T 17: 3,665,844 Q429K probably benign Het
Pkd1l1 T C 11: 8,855,564 R1671G probably damaging Het
Plec T C 15: 76,189,303 T504A possibly damaging Het
Pou5f1 G T 17: 35,510,042 R127L probably benign Het
Prkdc T A 16: 15,705,310 probably benign Het
Rassf8 T A 6: 145,815,810 N287K probably benign Het
Rdh16 T C 10: 127,813,633 probably benign Het
Ryr1 G A 7: 29,083,486 A1901V possibly damaging Het
Scnn1g A G 7: 121,746,683 Y343C probably damaging Het
Sema5a A G 15: 32,538,734 probably benign Het
Slc9b2 G A 3: 135,329,030 V310M probably damaging Het
Stox2 T A 8: 47,193,187 I477F possibly damaging Het
Terb1 A T 8: 104,469,154 H548Q probably benign Het
Tsks G A 7: 44,957,895 M547I possibly damaging Het
Ttc25 T A 11: 100,550,250 Y102* probably null Het
Wee2 T C 6: 40,462,034 F364L probably benign Het
Zfp644 A G 5: 106,636,858 Y608H probably damaging Het
Other mutations in Tuba8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Tuba8 APN 6 121220511 missense probably benign
IGL02725:Tuba8 APN 6 121225957 nonsense probably null
IGL03286:Tuba8 APN 6 121222954 missense possibly damaging 0.67
R0032:Tuba8 UTSW 6 121225904 missense probably benign 0.37
R1424:Tuba8 UTSW 6 121220511 missense probably benign
R1624:Tuba8 UTSW 6 121220426 missense probably damaging 1.00
R1741:Tuba8 UTSW 6 121222768 missense possibly damaging 0.95
R1985:Tuba8 UTSW 6 121220520 missense probably benign 0.00
R2513:Tuba8 UTSW 6 121225973 missense probably damaging 1.00
R3160:Tuba8 UTSW 6 121222738 missense possibly damaging 0.80
R3162:Tuba8 UTSW 6 121222738 missense possibly damaging 0.80
R4074:Tuba8 UTSW 6 121222797 missense probably damaging 1.00
R4875:Tuba8 UTSW 6 121226083 utr 3 prime probably benign
R4968:Tuba8 UTSW 6 121220589 missense probably damaging 1.00
R5073:Tuba8 UTSW 6 121222903 missense probably damaging 0.99
R5444:Tuba8 UTSW 6 121226101 utr 3 prime probably benign
R5546:Tuba8 UTSW 6 121222913 nonsense probably null
R5594:Tuba8 UTSW 6 121225904 missense possibly damaging 0.82
R5619:Tuba8 UTSW 6 121225895 missense probably damaging 0.96
R7366:Tuba8 UTSW 6 121222912 missense probably damaging 1.00
R7489:Tuba8 UTSW 6 121226021 missense probably damaging 1.00
Posted On2016-08-02