Incidental Mutation 'R2262:Tuba1c'
ID 243900
Institutional Source Beutler Lab
Gene Symbol Tuba1c
Ensembl Gene ENSMUSG00000043091
Gene Name tubulin, alpha 1C
Synonyms M[a]6, Tuba6
MMRRC Submission 040262-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2262 (G1)
Quality Score 103
Status Not validated
Chromosome 15
Chromosomal Location 98927772-98935986 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98935757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 406 (H406R)
Ref Sequence ENSEMBL: ENSMUSP00000051033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058914]
AlphaFold P68373
Predicted Effect probably damaging
Transcript: ENSMUST00000058914
AA Change: H406R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051033
Gene: ENSMUSG00000043091
AA Change: H406R

DomainStartEndE-ValueType
Tubulin 49 246 6.98e-83 SMART
Tubulin_C 248 393 9.05e-59 SMART
low complexity region 433 448 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230447
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 A G 4: 132,790,474 (GRCm39) T572A unknown Het
Bco1 T C 8: 117,859,764 (GRCm39) L489S probably damaging Het
Brinp1 A G 4: 68,747,591 (GRCm39) Y171H probably damaging Het
C1rl A T 6: 124,483,907 (GRCm39) I186F probably damaging Het
Cacna1d A G 14: 30,212,973 (GRCm39) V29A possibly damaging Het
Calcrl T C 2: 84,175,517 (GRCm39) D279G probably damaging Het
Cass4 T C 2: 172,269,174 (GRCm39) S421P probably damaging Het
Casz1 G T 4: 149,013,556 (GRCm39) R40L probably damaging Het
Cdh23 A G 10: 60,152,907 (GRCm39) V2372A probably damaging Het
Cdk17 T A 10: 93,047,820 (GRCm39) S56T possibly damaging Het
Ces2h T A 8: 105,743,191 (GRCm39) M142K probably damaging Het
Cfap161 C T 7: 83,442,580 (GRCm39) V78I probably benign Het
Chst8 T A 7: 34,375,435 (GRCm39) M135L probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dcc C T 18: 71,507,622 (GRCm39) E917K probably damaging Het
Dnah11 T A 12: 117,843,760 (GRCm39) M4362L probably benign Het
Dnah11 T C 12: 117,930,374 (GRCm39) T3324A probably damaging Het
Dnah8 A G 17: 30,892,809 (GRCm39) N798S probably damaging Het
Dnajc3 A G 14: 119,198,232 (GRCm39) Q118R probably damaging Het
Dok4 A T 8: 95,593,140 (GRCm39) C182S probably damaging Het
Fnbp4 G T 2: 90,587,748 (GRCm39) L375F probably damaging Het
Gbp8 T C 5: 105,163,999 (GRCm39) Q433R possibly damaging Het
Glt1d1 A G 5: 127,734,176 (GRCm39) M117V probably benign Het
Hcar1 A C 5: 124,016,649 (GRCm39) D347E probably benign Het
Kif16b T C 2: 142,582,837 (GRCm39) K563E probably damaging Het
Klra17 A G 6: 129,851,757 (GRCm39) probably null Het
Krt35 C T 11: 99,986,593 (GRCm39) M140I probably benign Het
Lamb2 A T 9: 108,357,809 (GRCm39) I111F probably damaging Het
Nell1 C T 7: 50,210,569 (GRCm39) T494I possibly damaging Het
Noa1 G A 5: 77,457,651 (GRCm39) Q85* probably null Het
Nsun4 A T 4: 115,910,147 (GRCm39) S138T probably benign Het
Pcdh1 A T 18: 38,331,710 (GRCm39) L431H probably benign Het
Pde1a T A 2: 79,959,275 (GRCm39) probably benign Het
Pdgfra T C 5: 75,346,184 (GRCm39) V778A probably benign Het
Plekhj1 A T 10: 80,632,306 (GRCm39) N55K probably benign Het
Ptpn20 A G 14: 33,334,268 (GRCm39) M49V probably benign Het
Rbm6 A G 9: 107,668,289 (GRCm39) L547P probably damaging Het
Rexo1 C T 10: 80,385,403 (GRCm39) E552K probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Saxo1 C T 4: 86,397,212 (GRCm39) D109N probably damaging Het
Setd2 A G 9: 110,390,311 (GRCm39) probably benign Het
Slc22a28 T C 19: 8,048,573 (GRCm39) Y358C probably benign Het
Sptbn4 T A 7: 27,133,782 (GRCm39) D77V probably damaging Het
Ssh1 T C 5: 114,080,764 (GRCm39) S867G possibly damaging Het
Stmn2 T C 3: 8,606,955 (GRCm39) F25S probably damaging Het
Tcirg1 C T 19: 3,953,591 (GRCm39) R112H possibly damaging Het
Tekt4 T A 17: 25,695,485 (GRCm39) S439R possibly damaging Het
Trpc1 T A 9: 95,588,986 (GRCm39) N746I probably damaging Het
Uqcrfs1 G A 13: 30,725,090 (GRCm39) S150L probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Vmn1r68 T C 7: 10,261,372 (GRCm39) E242G probably damaging Het
Vmn2r29 T A 7: 7,243,085 (GRCm39) H22L possibly damaging Het
Vmn2r32 T A 7: 7,477,618 (GRCm39) I258L probably benign Het
Vmn2r37 T A 7: 9,220,943 (GRCm39) T307S probably damaging Het
Vmn2r6 T C 3: 64,464,090 (GRCm39) N248S probably benign Het
Vmn2r63 G T 7: 42,578,031 (GRCm39) T169N probably benign Het
Vmn2r67 T C 7: 84,786,182 (GRCm39) T608A probably damaging Het
Wdr87-ps T C 7: 29,231,987 (GRCm39) noncoding transcript Het
Xpo1 T A 11: 23,234,634 (GRCm39) probably null Het
Zfp180 T G 7: 23,804,049 (GRCm39) V156G probably benign Het
Zfp37 A T 4: 62,109,873 (GRCm39) L397Q probably damaging Het
Other mutations in Tuba1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02190:Tuba1c APN 15 98,935,870 (GRCm39) missense unknown
R2261:Tuba1c UTSW 15 98,935,757 (GRCm39) missense probably damaging 1.00
R4939:Tuba1c UTSW 15 98,935,835 (GRCm39) missense probably damaging 1.00
R6367:Tuba1c UTSW 15 98,935,334 (GRCm39) missense probably damaging 1.00
R6397:Tuba1c UTSW 15 98,935,738 (GRCm39) missense probably benign 0.29
R6999:Tuba1c UTSW 15 98,935,193 (GRCm39) missense probably benign 0.00
R8146:Tuba1c UTSW 15 98,935,496 (GRCm39) missense probably damaging 1.00
R8186:Tuba1c UTSW 15 98,935,396 (GRCm39) missense probably benign
R8403:Tuba1c UTSW 15 98,931,985 (GRCm39) missense probably damaging 0.98
R9192:Tuba1c UTSW 15 98,935,737 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGCGTACCATCCAGTTTGTG -3'
(R):5'- TAGGACAGTTAGAGCACACAC -3'

Sequencing Primer
(F):5'- TTTGTGGACTGGTGCCCCAC -3'
(R):5'- GGACAGTTAGAGCACACACAAAGAC -3'
Posted On 2014-10-16