Incidental Mutation 'R2026:Tedc2'
ID 220709
Institutional Source Beutler Lab
Gene Symbol Tedc2
Ensembl Gene ENSMUSG00000024118
Gene Name tubulin epsilon and delta complex 2
Synonyms 1600002H07Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.819) question?
Stock # R2026 (G1)
Quality Score 211
Status Not 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: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,880,205 (GRCm39) K269R probably benign Het
Abcc12 A G 8: 87,284,862 (GRCm39) V251A probably benign Het
Avil G A 10: 126,847,742 (GRCm39) G556S probably damaging Het
C3 T C 17: 57,525,562 (GRCm39) Y898C probably damaging Het
Cacng2 A G 15: 77,879,720 (GRCm39) F201L possibly damaging Het
Casp7 T A 19: 56,424,830 (GRCm39) I183N probably damaging Het
Cntn3 A T 6: 102,397,388 (GRCm39) W62R probably damaging Het
Ctrb1 T C 8: 112,415,317 (GRCm39) N119S probably benign Het
Cyp3a59 G A 5: 146,033,098 (GRCm39) V157M probably damaging Het
Dhfr G T 13: 92,502,279 (GRCm39) G117* probably null Het
Dido1 A T 2: 180,330,974 (GRCm39) L158* probably null Het
Dlg2 C A 7: 91,614,931 (GRCm39) P290Q probably damaging Het
Dnah3 T A 7: 119,638,629 (GRCm39) Q1240L probably damaging Het
Exd1 A T 2: 119,350,786 (GRCm39) S492T probably benign Het
Fermt1 T C 2: 132,760,445 (GRCm39) I415M probably benign Het
Fsip2 A G 2: 82,819,788 (GRCm39) T5174A possibly damaging Het
Fuca2 T G 10: 13,388,391 (GRCm39) V389G probably damaging Het
Gm14412 A T 2: 177,008,898 (GRCm39) H50Q possibly damaging Het
Gm5129 G A 5: 29,940,732 (GRCm39) probably benign Het
Hif3a T C 7: 16,778,322 (GRCm39) R437G possibly damaging Het
Hook3 T C 8: 26,528,126 (GRCm39) E588G probably damaging Het
Hs1bp3 A G 12: 8,387,738 (GRCm39) E301G probably benign Het
Icam2 A G 11: 106,273,268 (GRCm39) F15L probably benign Het
Ice2 T C 9: 69,323,607 (GRCm39) S701P probably benign Het
Igf2bp1 A G 11: 95,864,996 (GRCm39) V151A possibly damaging Het
Lig4 A T 8: 10,022,436 (GRCm39) L448Q probably damaging Het
Man2b1 G C 8: 85,821,964 (GRCm39) W726C probably damaging Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Msh6 C T 17: 88,297,771 (GRCm39) H1264Y probably damaging Het
Ncoa1 A T 12: 4,317,647 (GRCm39) S1228R probably benign Het
Ndufa10 A G 1: 92,367,614 (GRCm39) Y339H probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nutm2 A G 13: 50,628,856 (GRCm39) H640R probably benign Het
Or11i1 T C 3: 106,729,027 (GRCm39) I283V probably benign Het
Or2t1 T C 14: 14,328,891 (GRCm38) V260A probably benign Het
Or51ac3 T A 7: 103,214,084 (GRCm39) Y134F probably damaging Het
Or5b123 T A 19: 13,596,945 (GRCm39) C140S probably damaging Het
Or5w1b G T 2: 87,475,753 (GRCm39) A238E probably damaging Het
Or6c211 T A 10: 129,506,334 (GRCm39) D18V probably damaging Het
Pde1c C T 6: 56,157,175 (GRCm39) V162I probably damaging Het
Pdss2 A T 10: 43,269,871 (GRCm39) N238I possibly damaging Het
Pfas C T 11: 68,884,783 (GRCm39) G473E probably damaging Het
Pkn1 A G 8: 84,398,007 (GRCm39) V795A probably damaging Het
Polq A G 16: 36,883,107 (GRCm39) D1757G possibly damaging Het
Popdc3 T C 10: 45,190,951 (GRCm39) W21R probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rfc1 G T 5: 65,445,372 (GRCm39) T412K probably damaging Het
Sap130 T C 18: 31,831,627 (GRCm39) S706P possibly damaging Het
Scgn T C 13: 24,175,047 (GRCm39) probably benign Het
Smad7 T C 18: 75,527,225 (GRCm39) V357A probably damaging Het
Snrnp48 G T 13: 38,393,862 (GRCm39) A56S possibly damaging Het
Sptbn1 G T 11: 30,054,559 (GRCm39) A2178E probably benign Het
Syn2 C T 6: 115,255,212 (GRCm39) T508I probably benign Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Trpm7 T C 2: 126,654,658 (GRCm39) K1427E probably benign Het
Trrap A G 5: 144,739,854 (GRCm39) I1118V possibly damaging Het
Tslp A T 18: 32,948,725 (GRCm39) I37L probably benign Het
Ttll3 G A 6: 113,375,731 (GRCm39) V297M probably damaging Het
Ttn T C 2: 76,540,713 (GRCm39) D34091G possibly damaging Het
Txndc11 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 10,952,338 (GRCm39) probably benign Het
Ube3a T C 7: 58,953,474 (GRCm39) F803L probably damaging Het
Ubn1 A G 16: 4,882,514 (GRCm39) E325G probably damaging Het
Wfikkn2 A G 11: 94,129,779 (GRCm39) W121R possibly damaging Het
Zfp579 C A 7: 4,996,520 (GRCm39) E464* probably null Het
Zfp616 A T 11: 73,974,413 (GRCm39) L227F possibly 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
R1086:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
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 24,435,291 (GRCm39) missense probably damaging 1.00
R1396:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1888:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1888:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
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
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
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'- ATCCTGGCCATGAGGATGTC -3'
(R):5'- AGAGACCTTGGTGATGGCTG -3'

Sequencing Primer
(F):5'- ATGAGGATGTCCCAGCTCACATG -3'
(R):5'- TGATGGCTGTCACCCCATGAG -3'
Posted On 2014-08-25