Incidental Mutation 'R1086:Tedc2'
ID 239206
Institutional Source Beutler Lab
Gene Symbol Tedc2
Ensembl Gene ENSMUSG00000024118
Gene Name tubulin epsilon and delta complex 2
Synonyms 1600002H07Rik
MMRRC Submission 039172-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.819) question?
Stock # R1086 (G1)
Quality Score 69
Status Validated
Chromosome 17
Chromosomal Location 24434028-24439825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24435291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 366 (E366V)
Ref Sequence ENSEMBL: ENSMUSP00000024930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024930]
AlphaFold Q6GQV0
Predicted Effect probably damaging
Transcript: ENSMUST00000024930
AA Change: E366V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024930
Gene: ENSMUSG00000024118
AA Change: E366V

DomainStartEndE-ValueType
low complexity region 32 49 N/A INTRINSIC
low complexity region 78 84 N/A INTRINSIC
low complexity region 111 131 N/A INTRINSIC
Pfam:DUF4693 150 434 8.6e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124557
SMART Domains Protein: ENSMUSP00000119405
Gene: ENSMUSG00000024118

DomainStartEndE-ValueType
low complexity region 16 32 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171563
Meta Mutation Damage Score 0.4034 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.4%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,334,220 (GRCm39) probably benign Het
Agbl4 G C 4: 110,335,791 (GRCm39) probably benign Het
Ano6 T C 15: 95,847,843 (GRCm39) probably null Het
B3gnt8 C G 7: 25,327,736 (GRCm39) N55K probably damaging Het
Brox A G 1: 183,064,052 (GRCm39) Y252H probably damaging Het
Cfap100 T A 6: 90,380,890 (GRCm39) K605* probably null Het
Chd7 A G 4: 8,866,458 (GRCm39) T877A probably benign Het
Csmd3 T A 15: 47,559,151 (GRCm39) I2371F probably damaging Het
Cwc22 T A 2: 77,754,824 (GRCm39) probably benign Het
Cyp2s1 A T 7: 25,505,422 (GRCm39) D347E probably damaging Het
Dab1 C A 4: 104,185,769 (GRCm39) probably benign Het
Dis3l2 G A 1: 86,917,871 (GRCm39) D493N probably benign Het
Got1l1 A G 8: 27,688,007 (GRCm39) W341R probably damaging Het
Gps2 A G 11: 69,806,050 (GRCm39) probably benign Het
Haus1 A C 18: 77,854,553 (GRCm39) probably benign Het
Itgam T C 7: 127,679,436 (GRCm39) S193P probably damaging Het
Itpr2 C A 6: 146,251,543 (GRCm39) A1034S probably damaging Het
Lrp5 T C 19: 3,699,476 (GRCm39) R270G probably benign Het
Ltbr G A 6: 125,289,703 (GRCm39) probably benign Het
Mdga2 T C 12: 66,552,876 (GRCm39) probably benign Het
Mug1 T A 6: 121,862,813 (GRCm39) M1387K probably damaging Het
Nwd2 C T 5: 63,963,917 (GRCm39) S1167L probably damaging Het
Or5h19 T A 16: 58,856,626 (GRCm39) H158L probably damaging Het
Pfkm T C 15: 98,029,546 (GRCm39) V719A probably benign Het
Ppfia3 C G 7: 45,011,182 (GRCm39) G16A probably damaging Het
Ppp2r3d G A 9: 101,031,021 (GRCm39) T245I possibly damaging Het
Ptprd T C 4: 76,051,495 (GRCm39) T256A probably damaging Het
Ptprg C T 14: 11,952,706 (GRCm38) probably benign Het
Rabgap1 T C 2: 37,359,458 (GRCm39) V7A probably damaging Het
Rnh1 T G 7: 140,743,282 (GRCm39) Q231P probably benign Het
Rwdd2b C T 16: 87,233,446 (GRCm39) probably benign Het
Saal1 T C 7: 46,338,883 (GRCm39) probably benign Het
Sap130 G A 18: 31,783,673 (GRCm39) probably benign Het
Serpina1d T G 12: 103,730,046 (GRCm39) M379L probably benign Het
Skor2 A C 18: 76,946,994 (GRCm39) S239R unknown Het
Slc16a13 A G 11: 70,109,850 (GRCm39) L217P probably damaging Het
Slc18b1 T C 10: 23,679,693 (GRCm39) M74T probably benign Het
Speer4e2 T C 5: 15,028,804 (GRCm39) D29G probably benign Het
Tacc2 A T 7: 130,228,227 (GRCm39) E1637D possibly damaging Het
Tg A C 15: 66,555,911 (GRCm39) I868L probably benign Het
Ttll5 G A 12: 85,937,853 (GRCm39) V395I possibly damaging Het
Uba6 C A 5: 86,275,578 (GRCm39) C739F probably benign Het
Unc5d A C 8: 29,365,658 (GRCm39) V109G possibly damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp462 G T 4: 55,013,000 (GRCm39) K507N probably damaging Het
Other mutations in Tedc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Tedc2 APN 17 24,436,926 (GRCm39) missense probably benign 0.01
IGL02111:Tedc2 APN 17 24,437,140 (GRCm39) splice site probably benign
IGL02347:Tedc2 APN 17 24,439,584 (GRCm39) missense probably damaging 1.00
IGL03400:Tedc2 APN 17 24,438,777 (GRCm39) missense probably benign
R0766:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R0766:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1066:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1066:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1067:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1067:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1085:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1085:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1086:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1136:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1136:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1137:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1137:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1203:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1203:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1345:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1345:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1385:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1385:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1396:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1396:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1888:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1888:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1888:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1888:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1891:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1891:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1943:Tedc2 UTSW 17 24,436,923 (GRCm39) missense possibly damaging 0.90
R1984:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1984:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1985:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1985:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1986:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1986:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R2026:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R2026:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R2054:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R2054:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R2086:Tedc2 UTSW 17 24,436,874 (GRCm39) missense probably damaging 1.00
R2317:Tedc2 UTSW 17 24,435,358 (GRCm39) missense probably benign 0.00
R3705:Tedc2 UTSW 17 24,435,361 (GRCm39) missense probably benign 0.30
R4085:Tedc2 UTSW 17 24,438,813 (GRCm39) missense probably benign 0.01
R4664:Tedc2 UTSW 17 24,439,114 (GRCm39) splice site probably benign
R4676:Tedc2 UTSW 17 24,438,985 (GRCm39) missense probably benign
R4686:Tedc2 UTSW 17 24,436,862 (GRCm39) critical splice donor site probably null
R4762:Tedc2 UTSW 17 24,435,354 (GRCm39) missense probably benign 0.05
R4837:Tedc2 UTSW 17 24,439,567 (GRCm39) missense probably damaging 1.00
R4863:Tedc2 UTSW 17 24,436,910 (GRCm39) missense probably damaging 1.00
R5936:Tedc2 UTSW 17 24,435,315 (GRCm39) missense probably damaging 1.00
R9159:Tedc2 UTSW 17 24,436,705 (GRCm39) missense probably damaging 1.00
R9643:Tedc2 UTSW 17 24,435,328 (GRCm39) missense probably benign
RF031:Tedc2 UTSW 17 24,435,213 (GRCm39) critical splice donor site probably benign
Z1177:Tedc2 UTSW 17 24,439,545 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AGCTACTGCTTCTCCCGAGACTTAC -3'
(R):5'- TGCATACTACGGGCTGCTACACAC -3'

Sequencing Primer
(F):5'- TCCCGAGACTTACCCTGG -3'
(R):5'- ctgcctgcctctgcctc -3'
Posted On 2014-10-03