Incidental Mutation 'IGL01066:Tedc1'
ID52422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tedc1
Ensembl Gene ENSMUSG00000037466
Gene Nametubulin epsilon and delta complex 1
Synonyms4930427A07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01066
Quality Score
Status
Chromosome12
Chromosomal Location113156421-113166048 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113163150 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 344 (E344G)
Ref Sequence ENSEMBL: ENSMUSP00000035351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049271] [ENSMUST00000196755] [ENSMUST00000200522]
Predicted Effect probably damaging
Transcript: ENSMUST00000049271
AA Change: E344G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035351
Gene: ENSMUSG00000037466
AA Change: E344G

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:DUF4509 41 221 4.8e-65 PFAM
low complexity region 233 245 N/A INTRINSIC
Pfam:DUF4510 258 418 3.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196755
SMART Domains Protein: ENSMUSP00000143431
Gene: ENSMUSG00000037466

DomainStartEndE-ValueType
low complexity region 1 20 N/A INTRINSIC
Pfam:DUF4509 40 138 4.1e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198072
Predicted Effect probably benign
Transcript: ENSMUST00000200522
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2300003K06Rik T A 11: 99,837,628 R130* probably null Het
9030624J02Rik T A 7: 118,773,011 probably null Het
Abca12 T A 1: 71,353,730 R117W possibly damaging Het
Agrn A G 4: 156,177,343 S497P probably benign Het
Alpk1 A T 3: 127,680,225 S710T probably benign Het
Anapc4 T A 5: 52,857,209 N471K probably benign Het
Ano3 A T 2: 110,661,445 M879K probably null Het
Apoe A G 7: 19,696,600 L239P probably damaging Het
Ash1l T C 3: 88,984,635 Y1274H probably damaging Het
B3glct C T 5: 149,709,425 T80I possibly damaging Het
Casc1 C T 6: 145,176,222 G624S probably damaging Het
Ccdc146 T C 5: 21,319,542 T271A probably benign Het
Chd8 T A 14: 52,217,766 N1088I probably damaging Het
Csnk1g2 T C 10: 80,634,647 probably benign Het
Daxx T A 17: 33,913,893 V627D probably benign Het
Dpy19l3 A G 7: 35,692,767 probably benign Het
Enc1 A G 13: 97,245,314 I111V probably benign Het
Ep400 A G 5: 110,668,199 probably benign Het
Fig4 T C 10: 41,285,417 probably benign Het
Fkbp7 A T 2: 76,672,908 L36* probably null Het
Fxn A T 19: 24,267,298 probably benign Het
Gm10152 C T 7: 144,763,256 P16L unknown Het
Hivep2 T C 10: 14,149,024 V2194A possibly damaging Het
Hook3 T G 8: 26,048,298 E525A probably damaging Het
Icam1 A G 9: 21,016,105 probably null Het
Ifngr1 C T 10: 19,609,198 T315I probably damaging Het
Igsf10 A G 3: 59,327,782 probably null Het
Krt87 A G 15: 101,438,385 probably null Het
Lama1 T A 17: 67,743,326 C311S probably damaging Het
Lig3 T A 11: 82,797,315 M714K possibly damaging Het
Lrmp T C 6: 145,160,955 S222P probably damaging Het
Lypd5 C T 7: 24,353,485 T189I probably benign Het
Mapk8ip3 C T 17: 24,901,718 G807D probably benign Het
Met T C 6: 17,535,105 probably null Het
Nlrp4g C A 9: 124,349,526 noncoding transcript Het
Nlrp6 T A 7: 140,921,796 V62D possibly damaging Het
Nme7 A G 1: 164,345,430 probably null Het
Olfr1034 A G 2: 86,047,258 R259G probably damaging Het
Olfr1392 T C 11: 49,293,630 I103T possibly damaging Het
Olfr507 T C 7: 108,621,857 F15S probably damaging Het
Pcnx G A 12: 81,992,021 R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,632 probably benign Het
Pi4ka A G 16: 17,348,773 probably benign Het
Pkdrej T G 15: 85,816,159 I1859L probably benign Het
Plcg1 A T 2: 160,754,398 H638L probably damaging Het
Polr1b C T 2: 129,119,152 S677L probably damaging Het
Ppef2 A G 5: 92,234,237 L533P probably damaging Het
Sh3rf1 T A 8: 61,329,336 W171R probably damaging Het
Son T C 16: 91,660,136 probably benign Het
Sycp1 A G 3: 102,920,634 S266P probably damaging Het
Tkfc T C 19: 10,594,528 I381M probably benign Het
Tmprss6 T C 15: 78,442,434 D1G probably null Het
Ttn T C 2: 76,752,426 T22708A probably damaging Het
Ubtf T C 11: 102,308,884 probably benign Het
Vwc2l T C 1: 70,728,911 F45L probably damaging Het
Xpo7 T C 14: 70,701,755 T154A probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Tedc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Tedc1 APN 12 113163188 nonsense probably null
IGL01075:Tedc1 APN 12 113163188 nonsense probably null
IGL01077:Tedc1 APN 12 113163188 nonsense probably null
IGL01084:Tedc1 APN 12 113163188 nonsense probably null
IGL01103:Tedc1 APN 12 113163188 nonsense probably null
IGL01108:Tedc1 APN 12 113163188 nonsense probably null
IGL01137:Tedc1 APN 12 113163188 nonsense probably null
IGL01142:Tedc1 APN 12 113163188 nonsense probably null
IGL01149:Tedc1 APN 12 113163188 nonsense probably null
IGL01150:Tedc1 APN 12 113163188 nonsense probably null
IGL01151:Tedc1 APN 12 113163188 nonsense probably null
IGL02646:Tedc1 APN 12 113157301 missense possibly damaging 0.68
IGL02989:Tedc1 APN 12 113163321 missense probably benign 0.09
ANU05:Tedc1 UTSW 12 113163188 nonsense probably null
ANU22:Tedc1 UTSW 12 113163188 nonsense probably null
R1309:Tedc1 UTSW 12 113161780 missense probably benign
R1555:Tedc1 UTSW 12 113156497 unclassified probably benign
R2092:Tedc1 UTSW 12 113157720 missense probably damaging 1.00
R3053:Tedc1 UTSW 12 113156467 unclassified probably benign
R4130:Tedc1 UTSW 12 113163208 missense probably benign 0.01
R5050:Tedc1 UTSW 12 113156705 missense possibly damaging 0.86
R5386:Tedc1 UTSW 12 113156682 missense probably benign 0.03
R6377:Tedc1 UTSW 12 113161355 missense probably damaging 1.00
R6749:Tedc1 UTSW 12 113158082 missense probably damaging 1.00
R6761:Tedc1 UTSW 12 113161714 missense probably damaging 1.00
Posted On2013-06-21