Incidental Mutation 'R3160:Tuba8'
ID 258104
Institutional Source Beutler Lab
Gene Symbol Tuba8
Ensembl Gene ENSMUSG00000030137
Gene Name tubulin, alpha 8
Synonyms
MMRRC Submission 040611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3160 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 121187655-121203813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121199697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 127 (D127G)
Ref Sequence ENSEMBL: ENSMUSP00000032233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032233]
AlphaFold Q9JJZ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000032233
AA Change: D127G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: D127G

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
Meta Mutation Damage Score 0.9252 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Nop2 A G 6: 125,111,555 (GRCm39) N96S probably benign Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or4c52 T G 2: 89,845,365 (GRCm39) Y30* probably null Het
Pde5a T A 3: 122,575,277 (GRCm39) L356* probably null Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Other mutations in Tuba8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Tuba8 APN 6 121,197,470 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GGGCATTAACCACTTCTCCCAAG -3'
(R):5'- GTTGTAAGGCTCCACCACTG -3'

Sequencing Primer
(F):5'- TGTTTTACTCCCTATGGGCTAATACG -3'
(R):5'- TAAGGCTCCACCACTGCTGTG -3'
Posted On 2015-01-23