Incidental Mutation 'R4153:Tubd1'
ID 368383
Institutional Source Beutler Lab
Gene Symbol Tubd1
Ensembl Gene ENSMUSG00000020513
Gene Name tubulin, delta 1
Synonyms 4930550G19Rik
MMRRC Submission 040997-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4153 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 86435817-86458186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86440296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 107 (G107S)
Ref Sequence ENSEMBL: ENSMUSP00000130909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020821] [ENSMUST00000058286] [ENSMUST00000069503] [ENSMUST00000108030] [ENSMUST00000138810] [ENSMUST00000167178] [ENSMUST00000154617]
AlphaFold Q9R1K7
Predicted Effect probably damaging
Transcript: ENSMUST00000020821
AA Change: G107S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: G107S

DomainStartEndE-ValueType
Tubulin 47 246 2.91e-30 SMART
Blast:Tubulin 273 323 1e-12 BLAST
SCOP:d1tubb2 289 481 6e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000020824
Predicted Effect probably benign
Transcript: ENSMUST00000058286
SMART Domains Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516

DomainStartEndE-ValueType
Pfam:Pkinase 91 202 1.2e-19 PFAM
Pfam:Pkinase_Tyr 91 253 5.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000069503
AA Change: G107S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: G107S

DomainStartEndE-ValueType
Tubulin 47 246 2.91e-30 SMART
SCOP:d1tubb2 256 450 1e-25 SMART
Blast:Tubulin 258 292 1e-11 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000108030
AA Change: G107S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: G107S

DomainStartEndE-ValueType
Tubulin 47 246 2.91e-30 SMART
Blast:Tubulin 273 323 1e-12 BLAST
SCOP:d1tubb2 289 481 6e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138810
SMART Domains Protein: ENSMUSP00000122756
Gene: ENSMUSG00000020516

DomainStartEndE-ValueType
SCOP:d1koba_ 13 74 9e-13 SMART
PDB:4L3L|A 21 74 6e-30 PDB
Blast:S_TKc 38 74 7e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000167178
AA Change: G107S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: G107S

DomainStartEndE-ValueType
Tubulin 47 246 2.91e-30 SMART
SCOP:d1tubb2 256 450 1e-25 SMART
Blast:Tubulin 258 292 1e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000154617
SMART Domains Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516

DomainStartEndE-ValueType
S_TKc 91 352 8.24e-107 SMART
S_TK_X 353 415 9.2e-27 SMART
Meta Mutation Damage Score 0.9484 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (53/55)
Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,341,292 (GRCm39) V47A probably benign Het
4932414N04Rik A T 2: 68,498,941 (GRCm39) probably benign Het
Acat2 T A 17: 13,171,153 (GRCm39) H159L possibly damaging Het
Acsl5 A G 19: 55,269,895 (GRCm39) E253G probably benign Het
Adam34l T A 8: 44,079,564 (GRCm39) Y220F probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Ebf2 T G 14: 67,472,672 (GRCm39) V30G probably damaging Het
Erlin1 T A 19: 44,056,056 (GRCm39) T60S probably benign Het
Fanca A G 8: 124,031,617 (GRCm39) V358A possibly damaging Het
Fastkd3 T C 13: 68,738,257 (GRCm39) F602S probably damaging Het
Fras1 C A 5: 96,924,594 (GRCm39) N3678K probably benign Het
Gopc T C 10: 52,225,239 (GRCm39) I277V probably damaging Het
Gpd2 A G 2: 57,245,783 (GRCm39) T438A probably damaging Het
Gzma T C 13: 113,232,802 (GRCm39) K97E possibly damaging Het
Gzmn T A 14: 56,405,299 (GRCm39) T62S probably damaging Het
Hip1 T C 5: 135,441,560 (GRCm39) E570G probably damaging Het
Hs3st6 T C 17: 24,977,339 (GRCm39) V273A possibly damaging Het
Jarid2 C A 13: 45,063,902 (GRCm39) S873R probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Mast2 T C 4: 116,173,160 (GRCm39) N548S possibly damaging Het
Mthfr G T 4: 148,135,932 (GRCm39) R335L probably damaging Het
Ndst3 T C 3: 123,465,876 (GRCm39) Y32C probably damaging Het
Nwd1 T C 8: 73,408,564 (GRCm39) L808P probably damaging Het
Or52b1 T C 7: 104,978,592 (GRCm39) N269S probably damaging Het
Or56a3b A T 7: 104,771,516 (GRCm39) H284L probably damaging Het
Or8g52 A C 9: 39,631,296 (GRCm39) M258L probably benign Het
Pgk2 A G 17: 40,519,149 (GRCm39) V93A probably damaging Het
Pigk G A 3: 152,445,766 (GRCm39) V126I probably damaging Het
Plcl2 A T 17: 50,913,389 (GRCm39) K133* probably null Het
Pofut2 A G 10: 77,104,500 (GRCm39) K426E probably benign Het
Rbpj T A 5: 53,806,789 (GRCm39) H230Q probably damaging Het
Rnf213 A G 11: 119,300,308 (GRCm39) K269E probably benign Het
Shh A T 5: 28,662,947 (GRCm39) I407N probably damaging Het
Sntg1 A T 1: 8,653,569 (GRCm39) probably null Het
Svep1 A T 4: 58,089,426 (GRCm39) F1661Y possibly damaging Het
Tep1 G A 14: 51,075,051 (GRCm39) H1755Y possibly damaging Het
Thrap3 A C 4: 126,067,235 (GRCm39) probably null Het
Thumpd1 C T 7: 119,319,816 (GRCm39) C50Y probably damaging Het
Tmem131 T C 1: 36,847,874 (GRCm39) probably benign Het
Tnrc18 T C 5: 142,751,747 (GRCm39) D1368G possibly damaging Het
Ugt1a6a A G 1: 88,066,193 (GRCm39) probably null Het
Uty A G Y: 1,158,327 (GRCm39) V572A possibly damaging Het
Vmn1r171 A G 7: 23,332,077 (GRCm39) K89E probably damaging Het
Vmn2r100 AAAACAGGAGTATTGATTGGAAAC AAAAC 17: 19,743,681 (GRCm39) probably null Het
Vmn2r106 A G 17: 20,488,080 (GRCm39) L773P probably damaging Het
Vps13b T A 15: 35,792,173 (GRCm39) probably null Het
Other mutations in Tubd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Tubd1 APN 11 86,456,555 (GRCm39) missense probably benign 0.07
IGL00465:Tubd1 APN 11 86,445,894 (GRCm39) splice site probably benign
IGL03088:Tubd1 APN 11 86,443,825 (GRCm39) missense probably damaging 1.00
IGL03383:Tubd1 APN 11 86,439,834 (GRCm39) splice site probably benign
R0039:Tubd1 UTSW 11 86,440,221 (GRCm39) nonsense probably null
R0427:Tubd1 UTSW 11 86,448,616 (GRCm39) missense possibly damaging 0.94
R0482:Tubd1 UTSW 11 86,448,602 (GRCm39) missense possibly damaging 0.89
R2305:Tubd1 UTSW 11 86,446,017 (GRCm39) missense probably benign 0.38
R4436:Tubd1 UTSW 11 86,439,745 (GRCm39) missense probably benign 0.02
R4773:Tubd1 UTSW 11 86,446,128 (GRCm39) missense possibly damaging 0.83
R4793:Tubd1 UTSW 11 86,457,895 (GRCm39) missense probably benign 0.19
R4890:Tubd1 UTSW 11 86,443,621 (GRCm39) missense possibly damaging 0.83
R4908:Tubd1 UTSW 11 86,457,879 (GRCm39) missense probably damaging 1.00
R4990:Tubd1 UTSW 11 86,448,665 (GRCm39) missense probably damaging 1.00
R5004:Tubd1 UTSW 11 86,452,146 (GRCm39) missense probably damaging 0.98
R6192:Tubd1 UTSW 11 86,448,619 (GRCm39) missense probably benign 0.32
R7108:Tubd1 UTSW 11 86,448,631 (GRCm39) missense probably damaging 0.99
R8207:Tubd1 UTSW 11 86,440,248 (GRCm39) missense possibly damaging 0.88
R8254:Tubd1 UTSW 11 86,440,264 (GRCm39) missense probably damaging 1.00
R8962:Tubd1 UTSW 11 86,439,659 (GRCm39) start codon destroyed probably null 1.00
R9024:Tubd1 UTSW 11 86,445,991 (GRCm39) missense possibly damaging 0.62
R9166:Tubd1 UTSW 11 86,452,091 (GRCm39) missense probably benign
R9207:Tubd1 UTSW 11 86,456,537 (GRCm39) missense probably benign 0.03
R9508:Tubd1 UTSW 11 86,448,640 (GRCm39) missense probably damaging 1.00
Z1088:Tubd1 UTSW 11 86,440,296 (GRCm39) missense probably damaging 1.00
Z1088:Tubd1 UTSW 11 86,445,993 (GRCm39) missense probably damaging 1.00
Z1176:Tubd1 UTSW 11 86,440,231 (GRCm39) missense possibly damaging 0.94
Z1177:Tubd1 UTSW 11 86,443,724 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTTTACGCTCTGTGGTACC -3'
(R):5'- TGAGTTGAACCAGTCAGAGCTC -3'

Sequencing Primer
(F):5'- CCTACTCTAGTTCCAGTTGC -3'
(R):5'- TTGAACCAGTCAGAGCTCAGAAAG -3'
Posted On 2016-02-03