Incidental Mutation 'R4735:Edc4'
ID 356479
Institutional Source Beutler Lab
Gene Symbol Edc4
Ensembl Gene ENSMUSG00000036270
Gene Name enhancer of mRNA decapping 4
Synonyms
MMRRC Submission 041962-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4735 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106607506-106619857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106613818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 386 (V386E)
Ref Sequence ENSEMBL: ENSMUSP00000113854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040254] [ENSMUST00000119261] [ENSMUST00000136048] [ENSMUST00000145618]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040254
AA Change: V386E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: V386E

DomainStartEndE-ValueType
Blast:WD40 33 93 1e-7 BLAST
low complexity region 103 110 N/A INTRINSIC
WD40 165 205 1.99e0 SMART
low complexity region 243 253 N/A INTRINSIC
WD40 286 325 1.38e-2 SMART
WD40 333 384 2.3e0 SMART
low complexity region 609 644 N/A INTRINSIC
low complexity region 664 692 N/A INTRINSIC
low complexity region 773 785 N/A INTRINSIC
low complexity region 794 808 N/A INTRINSIC
low complexity region 891 902 N/A INTRINSIC
coiled coil region 1001 1030 N/A INTRINSIC
low complexity region 1267 1285 N/A INTRINSIC
PDB:2VXG|B 1286 1402 3e-18 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000119261
AA Change: V386E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: V386E

DomainStartEndE-ValueType
Blast:WD40 33 93 1e-7 BLAST
low complexity region 103 110 N/A INTRINSIC
WD40 165 205 1.99e0 SMART
low complexity region 243 253 N/A INTRINSIC
WD40 286 325 1.38e-2 SMART
WD40 333 384 2.3e0 SMART
low complexity region 609 644 N/A INTRINSIC
low complexity region 664 692 N/A INTRINSIC
low complexity region 773 785 N/A INTRINSIC
low complexity region 794 808 N/A INTRINSIC
low complexity region 875 886 N/A INTRINSIC
coiled coil region 985 1014 N/A INTRINSIC
low complexity region 1251 1269 N/A INTRINSIC
PDB:2VXG|B 1270 1386 3e-18 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000132680
SMART Domains Protein: ENSMUSP00000114209
Gene: ENSMUSG00000036270

DomainStartEndE-ValueType
low complexity region 189 224 N/A INTRINSIC
low complexity region 245 273 N/A INTRINSIC
low complexity region 354 366 N/A INTRINSIC
low complexity region 375 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136048
SMART Domains Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270

DomainStartEndE-ValueType
Blast:WD40 33 93 9e-8 BLAST
low complexity region 103 110 N/A INTRINSIC
WD40 165 205 1.99e0 SMART
low complexity region 243 253 N/A INTRINSIC
WD40 286 325 1.38e-2 SMART
low complexity region 549 584 N/A INTRINSIC
low complexity region 604 632 N/A INTRINSIC
low complexity region 713 725 N/A INTRINSIC
low complexity region 734 748 N/A INTRINSIC
low complexity region 829 840 N/A INTRINSIC
low complexity region 961 990 N/A INTRINSIC
low complexity region 1215 1233 N/A INTRINSIC
PDB:2VXG|B 1234 1317 1e-14 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139154
Predicted Effect probably benign
Transcript: ENSMUST00000145618
SMART Domains Protein: ENSMUSP00000118162
Gene: ENSMUSG00000036270

DomainStartEndE-ValueType
low complexity region 185 220 N/A INTRINSIC
low complexity region 240 261 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156357
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is thought to promote mRNA decay, and is known to interact with several mRNA decapping proteins. In humans, decreased expression of this gene prevents the accumulation of mRNA decapping proteins to mRNA processing bodies (P-body). Alternative splicing results in multiple protein isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 133 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,262,897 (GRCm39) I1410N possibly damaging Het
9230106D20Rik T C 10: 19,536,001 (GRCm39) noncoding transcript Het
Acsf3 T A 8: 123,508,218 (GRCm39) I238N probably damaging Het
Ahctf1 T C 1: 179,580,964 (GRCm39) N1746S probably benign Het
Akap3 T C 6: 126,842,601 (GRCm39) S407P probably damaging Het
Ankfy1 T A 11: 72,621,437 (GRCm39) M241K probably benign Het
Ano7 C A 1: 93,328,216 (GRCm39) T622K probably benign Het
App T C 16: 84,900,202 (GRCm39) T83A probably damaging Het
Arhgef28 T A 13: 98,036,237 (GRCm39) E1674V probably damaging Het
Asb2 C A 12: 103,291,317 (GRCm39) V489L probably benign Het
Atrn T C 2: 130,862,910 (GRCm39) V1330A probably benign Het
Bltp1 T A 3: 37,059,116 (GRCm39) N3267K possibly damaging Het
Brca1 A G 11: 101,383,001 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc168 A G 1: 44,100,861 (GRCm39) I79T probably benign Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Celsr1 T A 15: 85,790,230 (GRCm39) probably null Het
Ckap4 A G 10: 84,369,384 (GRCm39) V116A possibly damaging Het
Crb3 A G 17: 57,372,207 (GRCm39) T85A probably damaging Het
Cyld T C 8: 89,456,278 (GRCm39) S443P probably damaging Het
Cyp27a1 T G 1: 74,776,366 (GRCm39) V434G possibly damaging Het
Cyp2b13 A G 7: 25,787,720 (GRCm39) T339A probably benign Het
Dars1 A T 1: 128,303,971 (GRCm39) L252* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Ddx55 T C 5: 124,704,539 (GRCm39) F382S probably damaging Het
Dmtf1l T A X: 125,722,217 (GRCm39) K296M probably damaging Het
Dnah7b G A 1: 46,106,115 (GRCm39) R33Q unknown Het
Dnm2 G T 9: 21,385,883 (GRCm39) S302I probably damaging Het
Dock4 T A 12: 40,681,525 (GRCm39) F75I probably benign Het
Dpp10 T C 1: 123,326,356 (GRCm39) N365S probably benign Het
Dpy19l3 G T 7: 35,422,146 (GRCm39) Q236K probably benign Het
Dsp T C 13: 38,380,016 (GRCm39) S1655P probably damaging Het
Ebpl A T 14: 61,579,567 (GRCm39) I117N probably damaging Het
Eif2s2 T A 2: 154,720,467 (GRCm39) probably null Het
Elob A T 17: 24,046,562 (GRCm39) probably null Het
Enox2 T C X: 48,158,554 (GRCm39) I71V probably damaging Het
Fez1 A T 9: 36,772,141 (GRCm39) K149* probably null Het
Fhip2a A G 19: 57,359,661 (GRCm39) E67G probably damaging Het
Fign A G 2: 63,810,782 (GRCm39) Y163H probably damaging Het
Flnc G A 6: 29,455,812 (GRCm39) G2048S probably damaging Het
Fras1 A G 5: 96,736,022 (GRCm39) D539G probably benign Het
Frmd4b T C 6: 97,436,220 (GRCm39) probably benign Het
Gan C T 8: 117,920,970 (GRCm39) T402M probably damaging Het
Ganc T A 2: 120,267,104 (GRCm39) silent Het
Ggt6 C A 11: 72,327,425 (GRCm39) R103S probably benign Het
Gli2 T C 1: 118,768,052 (GRCm39) D725G probably damaging Het
Gm15446 T A 5: 110,090,818 (GRCm39) C357S probably damaging Het
Gm44501 A G 17: 40,889,810 (GRCm39) N108S probably benign Het
Gm6309 A T 5: 146,105,054 (GRCm39) D286E probably damaging Het
Gm6358 G A 16: 88,937,848 (GRCm39) G29E unknown Het
Grik5 A G 7: 24,757,713 (GRCm39) I422T probably damaging Het
Grin2c A G 11: 115,140,422 (GRCm39) I1232T possibly damaging Het
Gsg1 C T 6: 135,214,405 (GRCm39) R365H possibly damaging Het
H2-M2 A G 17: 37,794,135 (GRCm39) S30P possibly damaging Het
Hcfc2 A G 10: 82,547,914 (GRCm39) D302G probably damaging Het
Hk2 T C 6: 82,721,955 (GRCm39) D128G probably benign Het
Hmcn2 C A 2: 31,273,787 (GRCm39) Q1380K probably benign Het
Hsp90b1 G T 10: 86,529,819 (GRCm39) P617T probably damaging Het
Htr1d A G 4: 136,170,197 (GRCm39) E142G probably benign Het
Hydin G A 8: 111,282,264 (GRCm39) probably null Het
Il1r1 T A 1: 40,332,455 (GRCm39) N81K probably benign Het
Inpp5b T C 4: 124,677,760 (GRCm39) S407P probably damaging Het
Itpkb T C 1: 180,245,780 (GRCm39) Y766H probably damaging Het
Lyrm2 T A 4: 32,801,150 (GRCm39) I65N probably damaging Het
Mink1 T A 11: 70,500,086 (GRCm39) probably null Het
Mkrn3 C T 7: 62,069,452 (GRCm39) R113H probably damaging Het
Msx3 G A 7: 139,627,798 (GRCm39) A157V probably damaging Het
Nrxn2 T G 19: 6,548,484 (GRCm39) V59G possibly damaging Het
Nt5c3b T C 11: 100,331,732 (GRCm39) T12A probably benign Het
Nwd2 G A 5: 63,965,594 (GRCm39) R1726Q probably benign Het
Nynrin A G 14: 56,107,625 (GRCm39) T911A probably benign Het
Or11i1 T A 3: 106,728,996 (GRCm39) Y293F probably damaging Het
Or4p18 T C 2: 88,233,267 (GRCm39) T4A probably benign Het
Or51aa5 A G 7: 103,167,030 (GRCm39) I187T possibly damaging Het
Or51af1 C T 7: 103,141,267 (GRCm39) V273M possibly damaging Het
Or52n20 C T 7: 104,320,200 (GRCm39) T97I probably benign Het
Or5p66 A G 7: 107,885,520 (GRCm39) M271T probably benign Het
Or6c212 A G 10: 129,558,792 (GRCm39) I207T probably benign Het
Patl1 G T 19: 11,899,869 (GRCm39) M220I probably benign Het
Pcnx2 A T 8: 126,554,780 (GRCm39) probably null Het
Pigr A T 1: 130,774,291 (GRCm39) T424S probably damaging Het
Pik3c2b T A 1: 132,994,787 (GRCm39) D250E probably benign Het
Ppa2 G A 3: 133,076,186 (GRCm39) E272K probably benign Het
Pramel7 G A 2: 87,321,187 (GRCm39) Q283* probably null Het
Prelid3b A G 2: 174,307,683 (GRCm39) I81T probably benign Het
Prpf38a T C 4: 108,436,242 (GRCm39) I24V possibly damaging Het
Ptger2 A G 14: 45,239,295 (GRCm39) D311G possibly damaging Het
Rab4b A T 7: 26,872,191 (GRCm39) probably benign Het
Rad17 A C 13: 100,755,637 (GRCm39) D581E probably damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Scaf4 C T 16: 90,049,320 (GRCm39) D256N unknown Het
Serinc2 A G 4: 130,157,438 (GRCm39) F82L probably benign Het
Serpina3g T A 12: 104,205,372 (GRCm39) V37E probably damaging Het
Serpinb9c T A 13: 33,334,254 (GRCm39) M263L probably benign Het
Shbg A G 11: 69,508,326 (GRCm39) I67T possibly damaging Het
Slc25a48 G A 13: 56,596,887 (GRCm39) probably null Het
Slc25a54 T C 3: 109,005,923 (GRCm39) W144R probably damaging Het
Slc34a1 A T 13: 55,561,397 (GRCm39) T621S probably benign Het
Slc6a18 A T 13: 73,814,554 (GRCm39) C419S probably benign Het
Smc5 A T 19: 23,220,069 (GRCm39) D389E probably benign Het
Smco3 T A 6: 136,808,636 (GRCm39) E79D probably damaging Het
Sox5 A G 6: 143,906,561 (GRCm39) F298S probably damaging Het
Sphkap A G 1: 83,256,838 (GRCm39) S304P probably benign Het
Tcea2 C T 2: 181,328,514 (GRCm39) T211I probably damaging Het
Tcf4 G T 18: 69,697,226 (GRCm39) S34I possibly damaging Het
Tlr4 C T 4: 66,759,435 (GRCm39) R743C probably damaging Het
Tmem183a T C 1: 134,288,620 (GRCm39) E67G probably damaging Het
Tpr C T 1: 150,317,947 (GRCm39) R2152C possibly damaging Het
Trbv15 T C 6: 41,118,358 (GRCm39) I38T probably benign Het
Treh G A 9: 44,592,849 (GRCm39) A125T probably damaging Het
Trio A T 15: 27,752,875 (GRCm39) probably null Het
Ttn A G 2: 76,782,293 (GRCm39) V981A probably damaging Het
Uap1l1 A G 2: 25,252,732 (GRCm39) L436P probably damaging Het
Uba7 A T 9: 107,854,115 (GRCm39) I182F possibly damaging Het
Unc13c A T 9: 73,600,620 (GRCm39) S1375T probably benign Het
Usp48 C CT 4: 137,360,680 (GRCm39) probably null Het
Utp20 A C 10: 88,652,780 (GRCm39) V378G possibly damaging Het
Vmn1r69 A T 7: 10,314,926 (GRCm39) probably benign Het
Vmn1r86 A T 7: 12,836,221 (GRCm39) H218Q probably damaging Het
Vmn2r121 T A X: 123,038,335 (GRCm39) I562L probably benign Het
Vmn2r45 A T 7: 8,486,472 (GRCm39) I272N probably damaging Het
Wdr90 A G 17: 26,078,424 (GRCm39) V320A probably benign Het
Wfikkn1 A G 17: 26,097,367 (GRCm39) V319A possibly damaging Het
Whamm A G 7: 81,221,122 (GRCm39) D18G probably benign Het
Wrn T A 8: 33,775,250 (GRCm39) I605F probably damaging Het
Zdhhc18 A G 4: 133,341,178 (GRCm39) F232L probably damaging Het
Zfp41 T C 15: 75,490,609 (GRCm39) I187T probably benign Het
Zfp418 A G 7: 7,185,561 (GRCm39) Y508C probably damaging Het
Zfp560 T G 9: 20,260,347 (GRCm39) I172L probably benign Het
Zfp943 A T 17: 22,211,391 (GRCm39) D159V probably benign Het
Zfp955a T C 17: 33,460,696 (GRCm39) I479V probably benign Het
Zfpm1 T A 8: 123,062,219 (GRCm39) V426D probably benign Het
Zic1 C T 9: 91,246,558 (GRCm39) M171I possibly damaging Het
Other mutations in Edc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Edc4 APN 8 106,607,755 (GRCm39) missense probably damaging 1.00
IGL01069:Edc4 APN 8 106,613,766 (GRCm39) missense probably benign 0.35
IGL01470:Edc4 APN 8 106,616,613 (GRCm39) unclassified probably benign
IGL01656:Edc4 APN 8 106,613,009 (GRCm39) missense possibly damaging 0.55
IGL01804:Edc4 APN 8 106,617,289 (GRCm39) missense possibly damaging 0.92
IGL02135:Edc4 APN 8 106,612,454 (GRCm39) missense probably damaging 1.00
IGL02825:Edc4 APN 8 106,617,243 (GRCm39) missense probably damaging 1.00
IGL03036:Edc4 APN 8 106,613,943 (GRCm39) splice site probably null
IGL03401:Edc4 APN 8 106,614,146 (GRCm39) nonsense probably null
IGL03409:Edc4 APN 8 106,611,748 (GRCm39) missense probably damaging 1.00
Armor UTSW 8 106,617,499 (GRCm39) missense probably damaging 1.00
crossbow UTSW 8 106,617,051 (GRCm39) critical splice donor site probably null
mail UTSW 8 106,612,941 (GRCm39) splice site probably null
Post UTSW 8 106,614,146 (GRCm39) nonsense probably null
sling UTSW 8 106,612,478 (GRCm39) missense probably damaging 1.00
R0362:Edc4 UTSW 8 106,613,407 (GRCm39) missense probably damaging 1.00
R0541:Edc4 UTSW 8 106,616,060 (GRCm39) missense probably benign 0.00
R0614:Edc4 UTSW 8 106,616,028 (GRCm39) missense possibly damaging 0.93
R0631:Edc4 UTSW 8 106,617,424 (GRCm39) missense possibly damaging 0.57
R1067:Edc4 UTSW 8 106,617,637 (GRCm39) missense probably damaging 0.97
R1270:Edc4 UTSW 8 106,617,896 (GRCm39) missense possibly damaging 0.90
R1371:Edc4 UTSW 8 106,617,382 (GRCm39) unclassified probably benign
R1384:Edc4 UTSW 8 106,619,014 (GRCm39) missense probably damaging 1.00
R1417:Edc4 UTSW 8 106,614,487 (GRCm39) critical splice donor site probably null
R1423:Edc4 UTSW 8 106,617,843 (GRCm39) unclassified probably benign
R1446:Edc4 UTSW 8 106,614,764 (GRCm39) missense probably damaging 0.96
R1472:Edc4 UTSW 8 106,619,460 (GRCm39) missense probably damaging 0.99
R1797:Edc4 UTSW 8 106,617,717 (GRCm39) missense probably benign 0.03
R2086:Edc4 UTSW 8 106,614,634 (GRCm39) missense probably damaging 1.00
R2092:Edc4 UTSW 8 106,614,160 (GRCm39) missense probably damaging 1.00
R3079:Edc4 UTSW 8 106,611,750 (GRCm39) missense possibly damaging 0.86
R3551:Edc4 UTSW 8 106,612,126 (GRCm39) missense probably damaging 1.00
R4492:Edc4 UTSW 8 106,611,700 (GRCm39) frame shift probably null
R4650:Edc4 UTSW 8 106,619,307 (GRCm39) nonsense probably null
R4854:Edc4 UTSW 8 106,614,557 (GRCm39) intron probably benign
R5530:Edc4 UTSW 8 106,615,886 (GRCm39) nonsense probably null
R5851:Edc4 UTSW 8 106,617,499 (GRCm39) missense probably damaging 1.00
R5889:Edc4 UTSW 8 106,614,654 (GRCm39) missense possibly damaging 0.87
R5903:Edc4 UTSW 8 106,617,219 (GRCm39) missense probably benign 0.04
R5996:Edc4 UTSW 8 106,614,033 (GRCm39) missense probably damaging 1.00
R6078:Edc4 UTSW 8 106,614,180 (GRCm39) missense probably benign 0.01
R6079:Edc4 UTSW 8 106,614,180 (GRCm39) missense probably benign 0.01
R6143:Edc4 UTSW 8 106,612,506 (GRCm39) missense probably damaging 1.00
R7072:Edc4 UTSW 8 106,614,634 (GRCm39) missense probably damaging 1.00
R7211:Edc4 UTSW 8 106,612,941 (GRCm39) splice site probably null
R7368:Edc4 UTSW 8 106,615,037 (GRCm39) small deletion probably benign
R7429:Edc4 UTSW 8 106,618,216 (GRCm39) missense probably damaging 1.00
R7430:Edc4 UTSW 8 106,618,216 (GRCm39) missense probably damaging 1.00
R7787:Edc4 UTSW 8 106,614,146 (GRCm39) nonsense probably null
R8056:Edc4 UTSW 8 106,617,116 (GRCm39) unclassified probably benign
R8236:Edc4 UTSW 8 106,618,905 (GRCm39) missense possibly damaging 0.83
R8388:Edc4 UTSW 8 106,614,139 (GRCm39) missense probably damaging 1.00
R8529:Edc4 UTSW 8 106,611,682 (GRCm39) missense probably damaging 1.00
R8776:Edc4 UTSW 8 106,613,992 (GRCm39) missense probably damaging 1.00
R8776-TAIL:Edc4 UTSW 8 106,613,992 (GRCm39) missense probably damaging 1.00
R8900:Edc4 UTSW 8 106,617,857 (GRCm39) missense probably damaging 1.00
R9032:Edc4 UTSW 8 106,613,639 (GRCm39) missense probably damaging 1.00
R9051:Edc4 UTSW 8 106,613,833 (GRCm39) missense probably damaging 1.00
R9133:Edc4 UTSW 8 106,611,778 (GRCm39) critical splice donor site probably null
R9147:Edc4 UTSW 8 106,612,478 (GRCm39) missense probably damaging 1.00
R9200:Edc4 UTSW 8 106,617,051 (GRCm39) critical splice donor site probably null
R9556:Edc4 UTSW 8 106,615,067 (GRCm39) small deletion probably benign
RF009:Edc4 UTSW 8 106,615,812 (GRCm39) missense probably benign 0.27
RF014:Edc4 UTSW 8 106,611,232 (GRCm39) missense probably benign
U15987:Edc4 UTSW 8 106,614,180 (GRCm39) missense probably benign 0.01
X0018:Edc4 UTSW 8 106,613,633 (GRCm39) missense probably damaging 1.00
X0063:Edc4 UTSW 8 106,611,212 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TGTCTGCATGAATGGAAGCC -3'
(R):5'- CAAACTTTGAGGCTGGGAGG -3'

Sequencing Primer
(F):5'- TCTGCATGAATGGAAGCCTCATG -3'
(R):5'- GGCACACTCACTGAGCTGAAG -3'
Posted On 2015-11-11