Incidental Mutation 'R4819:Edc3'
ID 370057
Institutional Source Beutler Lab
Gene Symbol Edc3
Ensembl Gene ENSMUSG00000038957
Gene Name enhancer of mRNA decapping 3
Synonyms Lsm16, Yjdc
MMRRC Submission 042000-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4819 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 57615823-57659782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57655680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 477 (C477S)
Ref Sequence ENSEMBL: ENSMUSP00000049146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043990] [ENSMUST00000065330] [ENSMUST00000137245]
AlphaFold Q8K2D3
Predicted Effect possibly damaging
Transcript: ENSMUST00000043990
AA Change: C477S

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049146
Gene: ENSMUSG00000038957
AA Change: C477S

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: ENSMUST00000065330
SMART Domains Protein: ENSMUSP00000067341
Gene: ENSMUSG00000032316

low complexity region 57 73 N/A INTRINSIC
low complexity region 122 147 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
low complexity region 181 199 N/A INTRINSIC
low complexity region 234 252 N/A INTRINSIC
low complexity region 261 283 N/A INTRINSIC
S_TKc 304 620 5.56e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137245
SMART Domains Protein: ENSMUSP00000123317
Gene: ENSMUSG00000038957

Pfam:LSM14 1 56 3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215109
Predicted Effect probably benign
Transcript: ENSMUST00000215233
Predicted Effect probably benign
Transcript: ENSMUST00000215333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216095
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,240,421 (GRCm39) N761K possibly damaging Het
Adgrf3 T A 5: 30,403,442 (GRCm39) L444F possibly damaging Het
Akap8 G A 17: 32,531,279 (GRCm39) R378W probably damaging Het
Amotl2 C T 9: 102,607,270 (GRCm39) R693W probably damaging Het
As3mt G T 19: 46,695,968 (GRCm39) probably benign Het
Atp6v1e2 A G 17: 87,251,966 (GRCm39) V144A probably benign Het
Bfar C T 16: 13,505,331 (GRCm39) Q114* probably null Het
Casd1 C T 6: 4,621,225 (GRCm39) A261V probably damaging Het
Cd177 A T 7: 24,451,696 (GRCm39) I440K probably damaging Het
Cfap54 G T 10: 92,672,339 (GRCm39) Y2910* probably null Het
Csl A G 10: 99,593,944 (GRCm39) F374L possibly damaging Het
Dctn1 G A 6: 83,167,501 (GRCm39) R275H probably damaging Het
Derl3 A G 10: 75,729,713 (GRCm39) probably null Het
Dst A G 1: 34,007,916 (GRCm39) I117V probably benign Het
Efs T C 14: 55,154,610 (GRCm39) E450G probably damaging Het
Fcrla T A 1: 170,748,508 (GRCm39) I212F probably damaging Het
Fsip2 A G 2: 82,818,786 (GRCm39) I4840V probably benign Het
Gpam T A 19: 55,066,773 (GRCm39) I581F probably benign Het
Greb1l A G 18: 10,458,358 (GRCm39) D45G probably damaging Het
Heca A G 10: 17,783,820 (GRCm39) Y478H probably damaging Het
Hspa9 C T 18: 35,072,441 (GRCm39) M561I probably damaging Het
Hyal6 T A 6: 24,734,965 (GRCm39) Y299* probably null Het
Iho1 A G 9: 108,283,877 (GRCm39) V189A probably benign Het
Ik T A 18: 36,886,310 (GRCm39) probably null Het
Khsrp A G 17: 57,330,360 (GRCm39) S582P possibly damaging Het
Kif18a A G 2: 109,122,471 (GRCm39) D182G probably damaging Het
Krt1c T C 15: 101,719,979 (GRCm39) T564A unknown Het
Lig4 A G 8: 10,021,885 (GRCm39) S632P probably benign Het
Med1 C T 11: 98,046,258 (GRCm39) probably benign Het
Mgat3 T A 15: 80,096,550 (GRCm39) I459N probably damaging Het
Mkln1 A T 6: 31,451,421 (GRCm39) Q454L probably benign Het
Mn1 A G 5: 111,567,803 (GRCm39) E591G possibly damaging Het
Myo5c T A 9: 75,199,484 (GRCm39) L1364Q probably damaging Het
Oas1d T C 5: 121,053,780 (GRCm39) V80A probably damaging Het
Obscn A T 11: 58,929,674 (GRCm39) D5180E probably damaging Het
Pax6 G A 2: 105,522,622 (GRCm39) probably null Het
Pcdh15 A C 10: 74,160,221 (GRCm39) N446T probably damaging Het
Pcnx2 A T 8: 126,581,969 (GRCm39) F922L probably benign Het
Ptpn4 G T 1: 119,587,580 (GRCm39) T921K probably benign Het
Selenov A G 7: 27,989,746 (GRCm39) probably null Het
Tmem100 A G 11: 89,926,271 (GRCm39) T33A probably benign Het
Tmem59 C T 4: 107,044,878 (GRCm39) Q66* probably null Het
Trav21-dv12 T A 14: 54,114,070 (GRCm39) Y63* probably null Het
Trim66 G T 7: 109,056,793 (GRCm39) H1121Q probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Ttc17 G A 2: 94,194,955 (GRCm39) P520L probably damaging Het
Ttn A T 2: 76,622,093 (GRCm39) V15483E probably damaging Het
Vinac1 G T 2: 128,882,721 (GRCm39) N98K probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfhx4 C A 3: 5,468,974 (GRCm39) T3069K probably benign Het
Zfp281 A G 1: 136,553,448 (GRCm39) H142R probably benign Het
Zfp462 G T 4: 55,060,044 (GRCm39) R1190L probably damaging Het
Zfp935 T A 13: 62,602,231 (GRCm39) H323L probably damaging 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
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
R6353:Edc3 UTSW 9 57,623,520 (GRCm39) missense probably benign 0.00
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

Sequencing Primer
Posted On 2016-02-04