Incidental Mutation 'IGL02725:Tuba8'
ID305135
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 #IGL02725
Quality Score
Status
Chromosome6
Chromosomal Location121210696-121226854 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 121225957 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 410 (G410*)
Ref Sequence ENSEMBL: ENSMUSP00000032233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032233]
Predicted Effect probably null
Transcript: ENSMUST00000032233
AA Change: G410*
SMART Domains Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: G410*

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,474,909 I414T possibly damaging Het
Agpat3 A C 10: 78,278,055 D266E probably benign Het
Alpk3 G T 7: 81,093,610 Q1058H possibly damaging Het
Atat1 A T 17: 35,909,489 V37E probably benign Het
Bcl6b A G 11: 70,228,518 V124A probably damaging Het
Bmt2 T C 6: 13,628,496 E396G probably damaging Het
Ccdc50 T C 16: 27,436,597 C237R probably benign Het
Chd9 A G 8: 91,051,684 I2790M possibly damaging Het
Chkb A G 15: 89,429,137 L82P probably damaging Het
Cit T C 5: 115,985,473 Y1458H probably benign Het
Clp1 T A 2: 84,723,864 K320N probably benign Het
Cry2 T C 2: 92,413,260 probably benign Het
Cyp20a1 C T 1: 60,366,706 R220W probably benign Het
Cyp27a1 C T 1: 74,735,703 P268S probably damaging Het
Cyp2e1 T G 7: 140,763,915 I22S probably null Het
Defb34 A G 8: 19,123,758 T3A unknown Het
Dpy19l3 A T 7: 35,711,918 M422K probably benign Het
Eif4g3 A T 4: 138,170,471 probably benign Het
Elmod3 A G 6: 72,594,775 S7P probably damaging Het
Fam151a T G 4: 106,748,014 S524R probably damaging Het
Gcc1 A T 6: 28,418,459 V625E probably benign Het
Glmn G A 5: 107,575,289 P112S possibly damaging Het
Grm5 A C 7: 88,074,665 D721A probably damaging Het
Hivep3 T C 4: 120,095,822 V445A possibly damaging Het
Hmcn1 T A 1: 150,604,903 E4507D possibly damaging Het
Hmcn2 A C 2: 31,405,528 E2583A probably damaging Het
Ifnb1 T A 4: 88,522,630 I49F probably benign Het
Ints8 A C 4: 11,239,406 C306W probably benign Het
Jakmip2 A G 18: 43,562,590 S540P probably damaging Het
Kctd1 A G 18: 14,969,610 V838A possibly damaging Het
Klk10 T C 7: 43,781,620 L29P probably damaging Het
Lyst T A 13: 13,760,827 I3627K probably damaging Het
Maml3 A G 3: 52,103,774 S124P probably damaging Het
Nav2 A T 7: 49,565,095 K1632I probably damaging Het
Olfr324 T C 11: 58,597,864 V156A probably benign Het
Pde2a G T 7: 101,507,218 M616I probably null Het
Pdia2 T C 17: 26,196,532 D440G probably benign Het
Rab11fip5 A G 6: 85,374,489 S14P probably damaging Het
Rhpn2 T C 7: 35,379,606 S383P probably damaging Het
Rnf220 A G 4: 117,272,379 probably benign Het
Rnf43 A G 11: 87,731,585 D504G probably damaging Het
Setbp1 A T 18: 78,857,374 L1026* probably null Het
Slc1a4 A T 11: 20,308,408 S264T probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptan1 T C 2: 29,996,043 I739T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stat5b A T 11: 100,805,014 D47E possibly damaging Het
Taar7b A T 10: 24,000,063 Y42F probably benign Het
Tfdp2 T A 9: 96,287,695 I33K possibly damaging Het
Tm4sf5 A G 11: 70,510,622 H149R probably benign Het
Tmco6 A G 18: 36,738,707 M257V probably benign Het
Ubd T A 17: 37,193,962 V4D probably benign Het
Ugt2b34 C T 5: 86,906,425 V166I probably benign Het
Vmn2r70 C T 7: 85,565,345 V200I possibly damaging Het
Wdcp A T 12: 4,851,206 N354I probably damaging Het
Wipi2 A T 5: 142,666,863 Y410F possibly damaging Het
Zc3hav1 G T 6: 38,332,192 P565Q probably damaging Het
Zfp398 T C 6: 47,865,803 V131A probably benign Het
Zkscan3 T C 13: 21,394,893 D144G possibly damaging Het
Zpbp T A 11: 11,462,358 probably benign Het
Other mutations in Tuba8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Tuba8 APN 6 121220511 missense probably benign
IGL03091:Tuba8 APN 6 121220444 missense probably damaging 1.00
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 On2015-04-16