Incidental Mutation 'IGL00465:Tubd1'
ID 332154
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubd1
Ensembl Gene ENSMUSG00000020513
Gene Name tubulin, delta 1
Synonyms 4930550G19Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL00465
Quality Score
Status
Chromosome 11
Chromosomal Location 86435817-86458186 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 86445894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020821] [ENSMUST00000069503] [ENSMUST00000108030] [ENSMUST00000167178]
AlphaFold Q9R1K7
Predicted Effect probably benign
Transcript: ENSMUST00000020821
SMART Domains Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513

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: ENSMUST00000069503
SMART Domains Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513

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: ENSMUST00000108030
SMART Domains Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513

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: ENSMUST00000164931
SMART Domains Protein: ENSMUSP00000130621
Gene: ENSMUSG00000020513

DomainStartEndE-ValueType
Blast:Tubulin 2 27 1e-8 BLAST
SCOP:d1tubb2 37 184 2e-22 SMART
Blast:Tubulin 38 73 2e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000167178
SMART Domains Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513

DomainStartEndE-ValueType
Tubulin 47 246 2.91e-30 SMART
SCOP:d1tubb2 256 450 1e-25 SMART
Blast:Tubulin 258 292 1e-11 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,793,102 (GRCm39) S2T probably damaging Het
Adamts13 T A 2: 26,863,567 (GRCm39) W7R probably benign Het
Anks6 T A 4: 47,046,054 (GRCm39) D279V probably damaging Het
C4bp A T 1: 130,566,871 (GRCm39) L335Q probably damaging Het
Cd109 A T 9: 78,568,216 (GRCm39) K299* probably null Het
Cd200r2 A T 16: 44,729,651 (GRCm39) H102L probably damaging Het
Col12a1 A G 9: 79,604,863 (GRCm39) Y662H probably damaging Het
Cyp2c37 T C 19: 39,990,441 (GRCm39) F380L probably benign Het
Deup1 A G 9: 15,472,666 (GRCm39) S549P probably damaging Het
Dysf G T 6: 84,176,830 (GRCm39) probably null Het
Etaa1 A T 11: 17,897,825 (GRCm39) C166* probably null Het
Fam227b T C 2: 125,986,245 (GRCm39) probably null Het
Gucy1b2 T G 14: 62,640,649 (GRCm39) Q752P probably benign Het
Hal T C 10: 93,325,931 (GRCm39) probably null Het
Hao1 C A 2: 134,396,190 (GRCm39) K21N probably damaging Het
Itga4 T C 2: 79,122,394 (GRCm39) F536L probably benign Het
Lmod3 A T 6: 97,224,822 (GRCm39) I333N probably damaging Het
Mgme1 T A 2: 144,121,436 (GRCm39) D297E probably damaging Het
Myh2 G T 11: 67,069,659 (GRCm39) probably benign Het
Myo7a A G 7: 97,751,833 (GRCm39) M70T probably damaging Het
Nav3 T C 10: 109,688,607 (GRCm39) T557A probably damaging Het
Nif3l1 C A 1: 58,494,845 (GRCm39) H271Q possibly damaging Het
Nostrin A G 2: 69,015,898 (GRCm39) probably benign Het
Nxn C A 11: 76,165,481 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,185 (GRCm39) D551V probably damaging Het
Pde4d A G 13: 110,073,221 (GRCm39) D339G possibly damaging Het
Pkp4 T A 2: 59,169,099 (GRCm39) S408T probably damaging Het
Pxmp2 T C 5: 110,431,582 (GRCm39) T54A probably benign Het
Rif1 T A 2: 52,011,019 (GRCm39) V2362E probably damaging Het
Rps6kl1 A G 12: 85,186,203 (GRCm39) S276P probably benign Het
Scaf4 C A 16: 90,044,169 (GRCm39) M601I unknown Het
Scart2 A G 7: 139,874,755 (GRCm39) Y411C probably damaging Het
Setd7 T A 3: 51,457,729 (GRCm39) T33S probably benign Het
Shroom1 T A 11: 53,354,921 (GRCm39) D280E probably benign Het
Slc35f2 G T 9: 53,705,298 (GRCm39) probably null Het
Slitrk3 T A 3: 72,958,436 (GRCm39) N112I probably damaging Het
Spag1 A G 15: 36,183,967 (GRCm39) probably benign Het
Stx6 C T 1: 155,077,679 (GRCm39) probably benign Het
Sun1 A T 5: 139,220,440 (GRCm39) probably null Het
Tbl1xr1 G A 3: 22,246,432 (GRCm39) probably null Het
Tmc2 T C 2: 130,103,224 (GRCm39) S787P possibly damaging Het
Traf3ip3 C T 1: 192,877,128 (GRCm39) probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Trpm1 G T 7: 63,897,215 (GRCm39) M272I possibly damaging Het
Ttc21b T C 2: 66,073,119 (GRCm39) E189G probably benign Het
Vps13a T A 19: 16,729,539 (GRCm39) T167S probably damaging Het
Zbtb3 A G 19: 8,781,029 (GRCm39) D214G possibly damaging Het
Zfp658 A G 7: 43,216,780 (GRCm39) D50G probably benign Het
Zfp976 T A 7: 42,263,109 (GRCm39) I243L unknown Het
Other mutations in Tubd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Tubd1 APN 11 86,456,555 (GRCm39) missense probably benign 0.07
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
R4153:Tubd1 UTSW 11 86,440,296 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-08-05