Incidental Mutation 'R6353:Edc3'
ID 512304
Institutional Source Beutler Lab
Gene Symbol Edc3
Ensembl Gene ENSMUSG00000038957
Gene Name enhancer of mRNA decapping 3
Synonyms Lsm16, Yjdc
MMRRC Submission 044505-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6353 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 57615823-57659782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57623520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 152 (S152P)
Ref Sequence ENSEMBL: ENSMUSP00000049146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043990] [ENSMUST00000137245] [ENSMUST00000142807]
AlphaFold Q8K2D3
Predicted Effect probably benign
Transcript: ENSMUST00000043990
AA Change: S152P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000049146
Gene: ENSMUSG00000038957
AA Change: S152P

DomainStartEndE-ValueType
LSM14 1 80 9.12e-20 SMART
Pfam:Edc3_linker 102 197 1.9e-47 PFAM
FDF 198 301 1.84e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137245
SMART Domains Protein: ENSMUSP00000123317
Gene: ENSMUSG00000038957

DomainStartEndE-ValueType
Pfam:LSM14 1 56 3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142807
SMART Domains Protein: ENSMUSP00000123505
Gene: ENSMUSG00000038957

DomainStartEndE-ValueType
LSM14 1 65 3.41e-10 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EDC3 is associated with an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005 [PubMed 16364915]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik C A 9: 53,325,642 (GRCm39) Q60K probably benign Het
Aadacl2fm2 A T 3: 59,659,529 (GRCm39) L327F probably damaging Het
Aamp T C 1: 74,319,987 (GRCm39) D397G probably benign Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Acta1 T C 8: 124,620,426 (GRCm39) E4G probably benign Het
Apob A T 12: 8,059,421 (GRCm39) K2601N probably damaging Het
Arpin C A 7: 79,585,093 (GRCm39) probably benign Het
Asnsd1 T C 1: 53,386,938 (GRCm39) I230V probably benign Het
Baiap2l1 C T 5: 144,218,898 (GRCm39) E237K possibly damaging Het
Chek1 T C 9: 36,635,255 (GRCm39) K43E probably benign Het
Clec2g T A 6: 128,959,895 (GRCm39) probably null Het
Cnot10 A G 9: 114,426,614 (GRCm39) L646P probably damaging Het
Cyp2j9 T C 4: 96,474,135 (GRCm39) T102A probably benign Het
Dnase1l2 A T 17: 24,661,219 (GRCm39) L30Q probably damaging Het
Gask1b A T 3: 79,848,647 (GRCm39) R464S probably damaging Het
Gpr160 A T 3: 30,950,171 (GRCm39) D81V probably damaging Het
Intu A T 3: 40,608,138 (GRCm39) D32V probably damaging Het
Itga5 T C 15: 103,260,950 (GRCm39) E512G probably damaging Het
Khnyn T C 14: 56,131,760 (GRCm39) F561L possibly damaging Het
Kmt2e T A 5: 23,698,243 (GRCm39) V645E probably damaging Het
Mcoln3 T C 3: 145,836,909 (GRCm39) F247S probably damaging Het
Nek9 G A 12: 85,348,603 (GRCm39) T977I probably damaging Het
Nphs1 A G 7: 30,173,969 (GRCm39) T1015A probably damaging Het
Ntmt2 A G 1: 163,531,680 (GRCm39) Y158H possibly damaging Het
Nudcd1 T C 15: 44,284,158 (GRCm39) Y76C probably damaging Het
Or2a54 C A 6: 43,093,070 (GRCm39) Y131* probably null Het
Or8b44 T C 9: 38,410,112 (GRCm39) I49T probably benign Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Prl7c1 A G 13: 27,957,709 (GRCm39) S244P possibly damaging Het
Rpap1 G T 2: 119,607,377 (GRCm39) probably null Het
Rrp8 G A 7: 105,383,325 (GRCm39) R314* probably null Het
Smarca4 T A 9: 21,590,445 (GRCm39) probably null Het
Stambpl1 A G 19: 34,211,520 (GRCm39) probably null Het
Tmeff2 T C 1: 51,220,985 (GRCm39) V320A probably damaging Het
Top2b A G 14: 16,416,671 (GRCm38) K83E probably damaging Het
Ttc39b C G 4: 83,148,730 (GRCm39) V560L probably benign Het
Ttn A T 2: 76,672,153 (GRCm39) probably benign Het
Usp32 T C 11: 84,913,107 (GRCm39) I934V probably benign Het
Uxs1 T C 1: 43,836,410 (GRCm39) I122V probably damaging Het
Vmn1r168 A G 7: 23,240,944 (GRCm39) N267S probably benign Het
Vmn2r16 A G 5: 109,488,119 (GRCm39) N331D probably benign Het
Other mutations in Edc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
trojaning UTSW 9 57,620,711 (GRCm39) missense probably damaging 1.00
Trojans UTSW 9 57,620,829 (GRCm39) missense probably damaging 1.00
R0265:Edc3 UTSW 9 57,634,621 (GRCm39) missense probably damaging 1.00
R1720:Edc3 UTSW 9 57,655,462 (GRCm39) splice site probably null
R1802:Edc3 UTSW 9 57,634,598 (GRCm39) missense probably damaging 1.00
R2192:Edc3 UTSW 9 57,620,826 (GRCm39) missense probably damaging 1.00
R3911:Edc3 UTSW 9 57,655,686 (GRCm39) missense possibly damaging 0.90
R4362:Edc3 UTSW 9 57,620,829 (GRCm39) missense probably damaging 1.00
R4819:Edc3 UTSW 9 57,655,680 (GRCm39) missense possibly damaging 0.95
R5841:Edc3 UTSW 9 57,651,885 (GRCm39) missense probably benign 0.04
R5969:Edc3 UTSW 9 57,620,711 (GRCm39) missense probably damaging 1.00
R7705:Edc3 UTSW 9 57,647,197 (GRCm39) missense probably benign 0.36
R8011:Edc3 UTSW 9 57,620,659 (GRCm39) splice site probably benign
R8769:Edc3 UTSW 9 57,634,678 (GRCm39) missense probably damaging 1.00
R8878:Edc3 UTSW 9 57,623,484 (GRCm39) missense possibly damaging 0.86
R9055:Edc3 UTSW 9 57,623,360 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGACCTTCATCAGACAGAATTAGGC -3'
(R):5'- AGGGCAGGAACAACTGTGTC -3'

Sequencing Primer
(F):5'- TTCATCAGACAGAATTAGGCCCTTC -3'
(R):5'- GAACAACTGTGTCTCCGTGGTAC -3'
Posted On 2018-04-27