Incidental Mutation 'IGL02043:Tuba8'
ID 184844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tuba8
Ensembl Gene ENSMUSG00000030137
Gene Name tubulin, alpha 8
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02043
Quality Score
Status
Chromosome 6
Chromosomal Location 121187655-121203813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 121197470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 44 (N44T)
Ref Sequence ENSEMBL: ENSMUSP00000032233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032233]
AlphaFold Q9JJZ2
Predicted Effect probably benign
Transcript: ENSMUST00000032233
AA Change: N44T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: N44T

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Tuba8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02725:Tuba8 APN 6 121,202,916 (GRCm39) nonsense probably null
IGL03091:Tuba8 APN 6 121,197,403 (GRCm39) missense probably damaging 1.00
IGL03286:Tuba8 APN 6 121,199,913 (GRCm39) missense possibly damaging 0.67
R0032:Tuba8 UTSW 6 121,202,863 (GRCm39) missense probably benign 0.37
R1424:Tuba8 UTSW 6 121,197,470 (GRCm39) missense probably benign
R1624:Tuba8 UTSW 6 121,197,385 (GRCm39) missense probably damaging 1.00
R1741:Tuba8 UTSW 6 121,199,727 (GRCm39) missense possibly damaging 0.95
R1985:Tuba8 UTSW 6 121,197,479 (GRCm39) missense probably benign 0.00
R2513:Tuba8 UTSW 6 121,202,932 (GRCm39) missense probably damaging 1.00
R3160:Tuba8 UTSW 6 121,199,697 (GRCm39) missense possibly damaging 0.80
R3162:Tuba8 UTSW 6 121,199,697 (GRCm39) missense possibly damaging 0.80
R4074:Tuba8 UTSW 6 121,199,756 (GRCm39) missense probably damaging 1.00
R4875:Tuba8 UTSW 6 121,203,042 (GRCm39) utr 3 prime probably benign
R4968:Tuba8 UTSW 6 121,197,548 (GRCm39) missense probably damaging 1.00
R5073:Tuba8 UTSW 6 121,199,862 (GRCm39) missense probably damaging 0.99
R5444:Tuba8 UTSW 6 121,203,060 (GRCm39) utr 3 prime probably benign
R5546:Tuba8 UTSW 6 121,199,872 (GRCm39) nonsense probably null
R5594:Tuba8 UTSW 6 121,202,863 (GRCm39) missense possibly damaging 0.82
R5619:Tuba8 UTSW 6 121,202,854 (GRCm39) missense probably damaging 0.96
R7366:Tuba8 UTSW 6 121,199,871 (GRCm39) missense probably damaging 1.00
R7489:Tuba8 UTSW 6 121,202,980 (GRCm39) missense probably damaging 1.00
R7774:Tuba8 UTSW 6 121,200,348 (GRCm39) missense probably damaging 0.99
R8046:Tuba8 UTSW 6 121,199,832 (GRCm39) missense probably damaging 1.00
R8134:Tuba8 UTSW 6 121,198,381 (GRCm39) missense probably benign 0.00
R8284:Tuba8 UTSW 6 121,199,736 (GRCm39) missense probably damaging 1.00
R9337:Tuba8 UTSW 6 121,202,823 (GRCm39) missense probably damaging 1.00
R9562:Tuba8 UTSW 6 121,200,063 (GRCm39) missense probably benign 0.25
R9565:Tuba8 UTSW 6 121,200,063 (GRCm39) missense probably benign 0.25
Z1177:Tuba8 UTSW 6 121,200,298 (GRCm39) missense probably benign 0.04
Posted On 2014-05-07