Incidental Mutation 'IGL02347:Tedc2'
ID 289322
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02347
Quality Score
Status
Chromosome 17
Chromosomal Location 24434028-24439825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24439584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 19 (V19G)
Ref Sequence ENSEMBL: ENSMUSP00000024930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024930] [ENSMUST00000115390]
AlphaFold Q6GQV0
Predicted Effect probably damaging
Transcript: ENSMUST00000024930
AA Change: V19G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024930
Gene: ENSMUSG00000024118
AA Change: V19G

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: ENSMUST00000115390
SMART Domains Protein: ENSMUSP00000111048
Gene: ENSMUSG00000072082

DomainStartEndE-ValueType
FBOX 35 75 1.56e-6 SMART
CYCLIN 315 399 2.25e-13 SMART
Cyclin_C 408 531 2.58e-19 SMART
CYCLIN 416 494 2.27e-9 SMART
low complexity region 545 555 N/A INTRINSIC
low complexity region 563 574 N/A INTRINSIC
low complexity region 695 708 N/A INTRINSIC
low complexity region 719 731 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000124557
AA Change: V2G
SMART Domains Protein: ENSMUSP00000119405
Gene: ENSMUSG00000024118
AA Change: V2G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,452,835 (GRCm39) K35* probably null Het
Adad2 G T 8: 120,343,408 (GRCm39) G546V probably damaging Het
Bccip A G 7: 133,311,105 (GRCm39) K7E probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Car12 T A 9: 66,671,629 (GRCm39) V352D possibly damaging Het
Cyp2d11 G A 15: 82,274,681 (GRCm39) R299C probably benign Het
Dnah10 A C 5: 124,910,487 (GRCm39) probably null Het
Eddm13 A G 7: 6,272,883 (GRCm39) I79M possibly damaging Het
Egf A T 3: 129,472,026 (GRCm39) N1199K probably benign Het
Ehbp1l1 A G 19: 5,769,600 (GRCm39) W568R possibly damaging Het
Eif1ad14 T C 12: 87,886,359 (GRCm39) D90G probably damaging Het
Emc3 A G 6: 113,497,533 (GRCm39) M106T possibly damaging Het
Fam13b T C 18: 34,587,757 (GRCm39) K514E probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Frg2f1 A C 4: 119,387,929 (GRCm39) L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 (GRCm39) probably null Het
Glis3 A G 19: 28,509,283 (GRCm39) F234L probably benign Het
Grap2 T C 15: 80,530,557 (GRCm39) probably benign Het
H2-M10.2 T A 17: 36,596,505 (GRCm39) E113D probably benign Het
Itgb6 T C 2: 60,441,756 (GRCm39) T685A probably benign Het
Mrpl19 A T 6: 81,938,992 (GRCm39) M270K probably damaging Het
Msantd4 G T 9: 4,384,734 (GRCm39) probably benign Het
Msr1 G T 8: 40,085,778 (GRCm39) T34K probably damaging Het
Npc1 C T 18: 12,332,691 (GRCm39) V780M probably benign Het
Nsun6 A G 2: 15,034,831 (GRCm39) probably benign Het
Nt5c2 A G 19: 46,912,695 (GRCm39) probably benign Het
Nucb2 A C 7: 116,135,113 (GRCm39) Q340P probably benign Het
Nup50l A T 6: 96,142,511 (GRCm39) Y178N probably damaging Het
Or2l13b A G 16: 19,349,529 (GRCm39) L47P probably damaging Het
Or3a1b C T 11: 74,012,397 (GRCm39) T94I probably benign Het
Osgin1 A G 8: 120,172,277 (GRCm39) E357G probably benign Het
Pabpc6 C T 17: 9,887,993 (GRCm39) R186K probably benign Het
Pex1 A G 5: 3,653,350 (GRCm39) K83R probably damaging Het
Ppid A G 3: 79,502,526 (GRCm39) I82V probably benign Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rcn1 A T 2: 105,229,471 (GRCm39) V27E probably benign Het
Rnaseh1 A T 12: 28,707,629 (GRCm39) probably benign Het
Rnf148 A G 6: 23,654,729 (GRCm39) V89A probably benign Het
Siglecf G A 7: 43,001,145 (GRCm39) V38I possibly damaging Het
Slc13a5 T C 11: 72,149,780 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Sos2 A T 12: 69,643,520 (GRCm39) D953E probably benign Het
Strbp A C 2: 37,535,660 (GRCm39) V16G probably benign Het
Sycp1 A T 3: 102,800,863 (GRCm39) M567K probably benign Het
Tjp1 A G 7: 64,950,812 (GRCm39) probably null Het
Ttn A T 2: 76,539,564 (GRCm39) V26147E probably damaging Het
Vmn1r86 A G 7: 12,836,574 (GRCm39) S51P probably damaging Het
Vmn2r83 A G 10: 79,316,067 (GRCm39) T488A possibly damaging Het
Zfp541 A G 7: 15,817,390 (GRCm39) Y945C 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
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 24,435,292 (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
Posted On 2015-04-16