Incidental Mutation 'R4990:Tubd1'
ID386149
Institutional Source Beutler Lab
Gene Symbol Tubd1
Ensembl Gene ENSMUSG00000020513
Gene Nametubulin, delta 1
Synonyms4930550G19Rik
MMRRC Submission 042584-MU
Accession Numbers

Ncbi RefSeq: NM_001199045.1, NM_019756.3, NM_001199046.1, NM_001199047.1; MGI:1891826

Is this an essential gene? Probably essential (E-score: 0.933) question?
Stock #R4990 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location86544991-86567360 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86557839 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 295 (L295P)
Ref Sequence ENSEMBL: ENSMUSP00000130909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020821] [ENSMUST00000069503] [ENSMUST00000108030] [ENSMUST00000167178]
Predicted Effect probably damaging
Transcript: ENSMUST00000020821
AA Change: L326P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: L326P

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 damaging
Transcript: ENSMUST00000069503
AA Change: L295P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: L295P

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: L326P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: L326P

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 unknown
Transcript: ENSMUST00000164931
AA Change: L75P
SMART Domains Protein: ENSMUSP00000130621
Gene: ENSMUSG00000020513
AA Change: L75P

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 damaging
Transcript: ENSMUST00000167178
AA Change: L295P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: L295P

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,294,939 I1135V possibly damaging Het
Abca14 G A 7: 120,312,165 R1324K probably benign Het
Amer3 A C 1: 34,588,741 D687A probably benign Het
Aplnr G A 2: 85,137,377 V249M probably damaging Het
Atg16l1 A G 1: 87,789,369 K471R probably benign Het
Cacna1b A G 2: 24,678,874 probably null Het
Ccdc152 A G 15: 3,301,157 I12T probably benign Het
Cds1 A G 5: 101,798,379 Y148C probably damaging Het
Cenpe T A 3: 135,256,640 L1989Q probably damaging Het
Cep295 T C 9: 15,332,138 Q1674R probably damaging Het
D930020B18Rik C G 10: 121,654,761 P89A probably damaging Het
D930020B18Rik C T 10: 121,654,762 P89L probably damaging Het
Dock2 T C 11: 34,695,251 M535V probably damaging Het
Dscam A G 16: 96,825,515 V398A probably benign Het
Elmo1 T C 13: 20,342,519 F413S probably damaging Het
Emb T A 13: 117,264,510 N198K probably damaging Het
Eno3 A G 11: 70,658,647 D98G probably damaging Het
Fbp1 C T 13: 62,865,074 V102I probably benign Het
Fbxw18 T C 9: 109,688,393 E414G probably damaging Het
Gm16432 A C 1: 178,098,421 I218L probably benign Het
Gm5861 A T 5: 11,186,414 E138V probably damaging Het
Grem2 A G 1: 174,836,813 C157R probably damaging Het
Hnrnpr A G 4: 136,329,379 E230G probably damaging Het
Hnrnpr G A 4: 136,336,298 V239I probably damaging Het
Ipo11 A T 13: 106,860,887 I688K probably benign Het
Irx4 G T 13: 73,265,507 R32L probably benign Het
Kcnh7 T C 2: 62,734,288 N876D probably benign Het
Klk1b26 T A 7: 44,016,249 probably null Het
Lrp2 G T 2: 69,481,388 T2582K probably benign Het
Lrriq1 A G 10: 103,200,559 I911T probably damaging Het
Megf6 A G 4: 154,267,226 E1132G possibly damaging Het
Mesp1 A G 7: 79,792,921 Y203H probably damaging Het
Ms4a4a T C 19: 11,378,837 S29P probably benign Het
Nbeal2 A C 9: 110,634,803 C1174G probably benign Het
Neb C T 2: 52,255,546 V2989I probably benign Het
Nkx2-1 T C 12: 56,534,939 Y41C possibly damaging Het
Nrxn3 T A 12: 89,260,474 I293N probably damaging Het
Nt5e A G 9: 88,355,593 N192S probably benign Het
Ntng1 A T 3: 110,135,261 probably null Het
Olfr1215 A T 2: 89,001,472 I272K probably damaging Het
Olfr1229 A T 2: 89,283,327 probably null Het
Olfr411 A G 11: 74,347,197 I129T probably damaging Het
Olfr45 G A 7: 140,691,447 E181K probably damaging Het
Panx1 A G 9: 15,010,217 Y121H probably damaging Het
Pcsk4 A G 10: 80,325,381 I233T possibly damaging Het
Pgm3 T A 9: 86,558,412 I409F probably damaging Het
Plg T C 17: 12,411,510 Y645H probably benign Het
Pon3 T C 6: 5,221,619 H337R probably benign Het
Rasa2 A G 9: 96,591,989 I162T probably benign Het
Ror1 A G 4: 100,441,964 I845V probably benign Het
Rpl4 T C 9: 64,174,885 V22A probably benign Het
Ryr3 G T 2: 112,635,777 Q4746K probably damaging Het
Ryr3 T C 2: 112,909,973 N531S probably damaging Het
Sbno1 A T 5: 124,400,165 F571I probably damaging Het
Scarf1 T C 11: 75,526,015 V761A probably benign Het
Sec22b T G 3: 97,921,111 probably null Het
Slc45a2 A G 15: 11,001,150 M112V probably benign Het
Snai3 G A 8: 122,456,332 T158M possibly damaging Het
Spata31d1a T C 13: 59,703,151 N388D probably benign Het
Sv2b T C 7: 75,117,722 N642S possibly damaging Het
Svil T A 18: 5,056,810 I561K probably benign Het
Trappc11 A T 8: 47,490,895 D1127E probably benign Het
Triobp C A 15: 78,967,005 A453D probably benign Het
Ulk4 C T 9: 121,192,786 V620I probably benign Het
Vmn2r39 A G 7: 9,023,676 I442T probably benign Het
Wwc1 T C 11: 35,876,566 T413A probably benign Het
Zfp131 A C 13: 119,782,913 V77G probably damaging Het
Zfyve26 T C 12: 79,287,833 D137G probably damaging Het
Other mutations in Tubd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Tubd1 APN 11 86565729 missense probably benign 0.07
IGL00465:Tubd1 APN 11 86555068 splice site probably benign
IGL03088:Tubd1 APN 11 86552999 missense probably damaging 1.00
IGL03383:Tubd1 APN 11 86549008 splice site probably benign
R0039:Tubd1 UTSW 11 86549395 nonsense probably null
R0427:Tubd1 UTSW 11 86557790 missense possibly damaging 0.94
R0482:Tubd1 UTSW 11 86557776 missense possibly damaging 0.89
R2305:Tubd1 UTSW 11 86555191 missense probably benign 0.38
R4153:Tubd1 UTSW 11 86549470 missense probably damaging 1.00
R4436:Tubd1 UTSW 11 86548919 missense probably benign 0.02
R4773:Tubd1 UTSW 11 86555302 missense possibly damaging 0.83
R4793:Tubd1 UTSW 11 86567069 missense probably benign 0.19
R4890:Tubd1 UTSW 11 86552795 missense possibly damaging 0.83
R4908:Tubd1 UTSW 11 86567053 missense probably damaging 1.00
R5004:Tubd1 UTSW 11 86561320 missense probably damaging 0.98
R6192:Tubd1 UTSW 11 86557793 missense probably benign 0.32
R7108:Tubd1 UTSW 11 86557805 missense probably damaging 0.99
Z1088:Tubd1 UTSW 11 86555167 missense probably damaging 1.00
Z1088:Tubd1 UTSW 11 86549470 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATTGTGGGTGAGGTCAATC -3'
(R):5'- TCCAGATGAAACTGTAAAGCCATCAAG -3'

Sequencing Primer
(F):5'- GAGGTCAATCGAGTTCACATTGC -3'
(R):5'- ACTCCGCGAGTTTCCATAGGAG -3'
Posted On2016-05-10