Incidental Mutation 'R5444:Tuba8'
ID 427334
Institutional Source Beutler Lab
Gene Symbol Tuba8
Ensembl Gene ENSMUSG00000030137
Gene Name tubulin, alpha 8
Synonyms
MMRRC Submission 043009-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5444 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 121187655-121203813 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to T at 121203060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032233]
AlphaFold Q9JJZ2
Predicted Effect probably benign
Transcript: ENSMUST00000032233
SMART Domains Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A G 5: 26,684,735 (GRCm39) noncoding transcript Het
Adam11 A G 11: 102,663,674 (GRCm39) Q284R probably damaging Het
Adamts17 T A 7: 66,691,647 (GRCm39) H610Q probably benign Het
Alg6 A G 4: 99,629,816 (GRCm39) Y131C probably benign Het
Apol9b T C 15: 77,619,963 (GRCm39) I253T probably damaging Het
Asb4 T A 6: 5,431,040 (GRCm39) I425N probably damaging Het
Atic T C 1: 71,615,876 (GRCm39) L474P probably damaging Het
B3glct C T 5: 149,669,985 (GRCm39) T318I probably damaging Het
Bbs7 T C 3: 36,666,199 (GRCm39) K22E possibly damaging Het
Cdk17 T G 10: 93,053,823 (GRCm39) probably null Het
Cemip T A 7: 83,631,499 (GRCm39) T438S probably damaging Het
Chd2 T C 7: 73,122,833 (GRCm39) E967G probably damaging Het
Cyp2d26 G T 15: 82,676,739 (GRCm39) D202E probably benign Het
Dhdds G A 4: 133,698,447 (GRCm39) R295* probably null Het
Eef2kmt G A 16: 5,066,959 (GRCm39) probably benign Het
Fn3krp G A 11: 121,312,430 (GRCm39) probably null Het
Gjc3 G A 5: 137,955,809 (GRCm39) L159F probably damaging Het
Gm28434 T C 5: 88,127,147 (GRCm39) probably benign Het
Gp2 G A 7: 119,053,821 (GRCm39) P47S possibly damaging Het
Irf7 C T 7: 140,844,732 (GRCm39) probably benign Het
Itgb8 T C 12: 119,201,573 (GRCm39) probably benign Het
Kcnb2 A T 1: 15,781,716 (GRCm39) I863F probably benign Het
Lamb1 T C 12: 31,348,908 (GRCm39) F647L possibly damaging Het
Mccc1 T A 3: 36,030,891 (GRCm39) M392L probably benign Het
Mtmr10 T C 7: 63,938,149 (GRCm39) probably null Het
Ncstn A C 1: 171,900,406 (GRCm39) V223G possibly damaging Het
Neurl3 G T 1: 36,308,571 (GRCm39) F80L probably damaging Het
Nf1 T C 11: 79,334,785 (GRCm39) M869T possibly damaging Het
Nfatc2 A G 2: 168,376,810 (GRCm39) probably benign Het
Nnat T C 2: 157,403,137 (GRCm39) F26S possibly damaging Het
Nos1ap T C 1: 170,202,820 (GRCm39) Y109C probably damaging Het
Nup205 T A 6: 35,166,124 (GRCm39) D194E probably damaging Het
Or10ak11 T A 4: 118,687,308 (GRCm39) I109L probably benign Het
Or3a4 T C 11: 73,944,803 (GRCm39) S261G probably benign Het
Or52k2 C T 7: 102,254,076 (GRCm39) R172* probably null Het
Or5b109 A T 19: 13,212,322 (GRCm39) Q236L probably benign Het
Or9g3 A T 2: 85,590,263 (GRCm39) F152L probably benign Het
Ostf1 A G 19: 18,558,677 (GRCm39) L202S probably benign Het
Pdzrn4 T A 15: 92,668,806 (GRCm39) M747K probably damaging Het
Plxnb1 A G 9: 108,935,521 (GRCm39) D1019G probably benign Het
Pnlip A G 19: 58,661,595 (GRCm39) I95V probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppp1r13b T A 12: 111,805,122 (GRCm39) T197S probably benign Het
Rasgrp3 A T 17: 75,810,370 (GRCm39) I357F probably damaging Het
Rbmxl2 G C 7: 106,809,044 (GRCm39) G110R probably damaging Het
Relch C T 1: 105,654,109 (GRCm39) T826I possibly damaging Het
Rgs22 T C 15: 36,015,773 (GRCm39) D1037G possibly damaging Het
Rnf215 A G 11: 4,085,843 (GRCm39) I107M probably benign Het
Rybp A T 6: 100,264,231 (GRCm39) M3K probably damaging Het
Sgo2b T C 8: 64,379,590 (GRCm39) S1081G possibly damaging Het
Slfn10-ps C T 11: 82,926,113 (GRCm39) noncoding transcript Het
Spag17 T C 3: 99,963,468 (GRCm39) V1062A probably benign Het
Sult2a1 A T 7: 13,569,944 (GRCm39) I96K possibly damaging Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Thbs3 T C 3: 89,130,692 (GRCm39) probably benign Het
Tmub2 T C 11: 102,179,066 (GRCm39) L255S possibly damaging Het
Trank1 T A 9: 111,222,026 (GRCm39) L2921Q probably benign Het
Trappc14 A T 5: 138,259,260 (GRCm39) probably null Het
Vmn2r25 T C 6: 123,805,451 (GRCm39) I469V probably benign Het
Zfp1007 A T 5: 109,823,502 (GRCm39) Y649* probably null 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
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
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'- AGTTTGACCTCATGTACGCC -3'
(R):5'- CCGTCTATGTAGGACAGGAAGTAG -3'

Sequencing Primer
(F):5'- CCAAGCGGGCCTTTGTACATTG -3'
(R):5'- TCTATGTAGGACAGGAAGTAGGCTGG -3'
Posted On 2016-09-01