Incidental Mutation 'R6761:Tedc1'
ID531711
Institutional Source Beutler Lab
Gene Symbol Tedc1
Ensembl Gene ENSMUSG00000037466
Gene Nametubulin epsilon and delta complex 1
Synonyms4930427A07Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.523) question?
Stock #R6761 (G1)
Quality Score225.009
Status Validated
Chromosome12
Chromosomal Location113156421-113166048 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113161714 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 252 (D252G)
Ref Sequence ENSEMBL: ENSMUSP00000035351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049271] [ENSMUST00000196755] [ENSMUST00000200522]
Predicted Effect probably damaging
Transcript: ENSMUST00000049271
AA Change: D252G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035351
Gene: ENSMUSG00000037466
AA Change: D252G

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 probably benign
Transcript: ENSMUST00000200522
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
Validation Efficiency 97% (34/35)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,567,948 V61A probably benign Het
Actr3b C T 5: 25,825,139 S67F probably damaging Het
Ap3m1 T C 14: 21,038,028 M107V probably benign Het
Ccdc27 C T 4: 154,037,698 G241D unknown Het
Cit T G 5: 115,908,675 D382E probably damaging Het
Clec3b G T 9: 123,156,939 G134V probably damaging Het
Cntnap2 T A 6: 47,049,373 H44Q probably benign Het
Dst T C 1: 34,214,550 S4300P probably damaging Het
Ebna1bp2 C T 4: 118,623,361 R134* probably null Het
Efcab14 T C 4: 115,738,827 S57P probably damaging Het
Exosc2 T C 2: 31,670,863 probably null Het
Fam213a T A 14: 40,994,621 H198L probably damaging Het
Hfm1 T C 5: 106,895,279 T630A probably damaging Het
Hkdc1 A T 10: 62,408,698 I203N possibly damaging Het
Hltf T A 3: 20,083,832 probably null Het
Igkv3-2 G T 6: 70,698,517 probably benign Het
Mslnl A G 17: 25,746,073 D471G probably damaging Het
Msmo1 A G 8: 64,719,027 Y281H probably benign Het
Nid1 A G 13: 13,482,035 T584A probably benign Het
Olfr628 C T 7: 103,732,484 A186V probably damaging Het
Olfr908 A G 9: 38,516,265 T78A probably damaging Het
Otoa G A 7: 121,121,950 G396D probably damaging Het
Prss45 G T 9: 110,840,419 A197S probably damaging Het
Rpap2 T A 5: 107,620,238 I314N probably benign Het
Sash1 A G 10: 8,744,522 M458T probably damaging Het
Slc44a5 A G 3: 154,240,077 probably null Het
Sorbs2 T C 8: 45,772,614 S254P probably damaging Het
Sycp2 T C 2: 178,374,351 probably null Het
Uty T C Y: 1,186,790 H145R probably damaging Homo
Vmn1r9 A G 6: 57,071,306 Y122C probably benign Het
Wdfy4 T A 14: 33,095,951 N1491Y possibly damaging Het
Wdr37 T C 13: 8,849,648 T140A probably benign Het
Other mutations in Tedc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Tedc1 APN 12 113163150 missense probably damaging 0.97
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
Predicted Primers PCR Primer
(F):5'- AAGACTCTAAGGGGTGCTCTG -3'
(R):5'- GAATAGCCAGTCCAGACAGG -3'

Sequencing Primer
(F):5'- CTCTAAGGGGTGCTCTGCTCAG -3'
(R):5'- AGATGCCTAGCTTACCCGG -3'
Posted On2018-08-29