Incidental Mutation 'RF014:Edc4'
ID 603413
Institutional Source Beutler Lab
Gene Symbol Edc4
Ensembl Gene ENSMUSG00000036270
Gene Name enhancer of mRNA decapping 4
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF014 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106607506-106619857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106611232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 61 (T61M)
Ref Sequence ENSEMBL: ENSMUSP00000039134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040254] [ENSMUST00000119261] [ENSMUST00000136048] [ENSMUST00000145618]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040254
AA Change: T61M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: T61M

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 benign
Transcript: ENSMUST00000119261
AA Change: T61M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: T61M

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
AA Change: T61M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: T61M

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 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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency 98% (49/50)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,820 (GRCm39) probably benign Het
A2ml1 T C 6: 128,547,031 (GRCm39) N366S probably damaging Het
Abca5 T C 11: 110,170,580 (GRCm39) probably null Het
Acaca T C 11: 84,122,550 (GRCm39) V323A probably benign Het
Agbl3 T A 6: 34,776,293 (GRCm39) D266E possibly damaging Het
Aggf1 A T 13: 95,507,276 (GRCm39) S170T possibly damaging Het
Amhr2 A T 15: 102,361,589 (GRCm39) S467C probably benign Het
Begain GCCGCC GCCGCCACCGCC 12: 108,999,348 (GRCm39) probably benign Het
Best3 A T 10: 116,840,410 (GRCm39) Q280L probably damaging Het
Calhm1 CTGTGGCTGTGG CTGTGGCTGTGGGTGTGGCTGTGG 19: 47,129,704 (GRCm39) probably benign Het
Ccdc186 A G 19: 56,801,904 (GRCm39) L71S probably benign Het
Ces1d C A 8: 93,902,793 (GRCm39) probably null Het
Chga AGC AGCGGC 12: 102,527,652 (GRCm39) probably benign Het
Chga AGC AGCTGC 12: 102,527,664 (GRCm39) probably benign Het
Clstn3 T A 6: 124,436,225 (GRCm39) K212* probably null Het
Col16a1 TTTTT TTTTTCTTTT 4: 129,986,860 (GRCm39) probably benign Het
Cpxm2 G T 7: 131,672,592 (GRCm39) T319K possibly damaging Het
Cyb5r4 TGCCCAGGGATGTGACAGACACAC TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC 9: 86,922,468 (GRCm39) probably benign Het
Dst T C 1: 34,286,760 (GRCm39) S3364P probably benign Het
Fndc5 A G 4: 129,035,960 (GRCm39) H199R probably benign Het
Gm43302 T A 5: 105,422,623 (GRCm39) I470F possibly damaging Het
Gne G T 4: 44,060,045 (GRCm39) A147D probably damaging Het
Igkv12-89 G GCAACGCCAC 6: 68,812,270 (GRCm39) probably benign Het
Irf9 C T 14: 55,843,334 (GRCm39) R179* probably null Het
Jakmip1 A T 5: 37,331,870 (GRCm39) K850M possibly damaging Het
Kalrn G A 16: 33,860,303 (GRCm39) T1884I probably benign Het
Krtap28-10 CCACCACAGCCACAGCCACCACAGCCACAG CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG 1: 83,019,972 (GRCm39) probably benign Het
Las1l CTCCTCCTTCTCCTCTTCCTC CTCCTC X: 94,984,263 (GRCm39) probably benign Het
Lctl A G 9: 64,026,212 (GRCm39) Y89C probably damaging Het
Lpgat1 GCC GCCTCC 1: 191,450,665 (GRCm39) probably benign Het
Luzp2 A T 7: 54,821,953 (GRCm39) I157F probably damaging Het
Lyz3 A G 10: 117,070,322 (GRCm39) *152Q probably null Het
Mamld1 GCA GCACCA X: 70,162,451 (GRCm39) probably benign Het
Map1a GCTCCAGCTCCAGCTCCAGCTCCA GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA 2: 121,136,776 (GRCm39) probably benign Het
Mbd3l1 A T 9: 18,396,296 (GRCm39) E140D possibly damaging Het
Mlh3 T A 12: 85,314,803 (GRCm39) Q461L probably benign Het
Mto1 G T 9: 78,355,598 (GRCm39) R7L probably benign Het
Muc4 A T 16: 32,570,676 (GRCm39) S579C probably damaging Het
Ngfr T C 11: 95,469,027 (GRCm39) Y117C probably damaging Het
Or10aa3 A T 1: 173,878,553 (GRCm39) I205F possibly damaging Het
Or13a23-ps1 A T 7: 140,118,690 (GRCm39) M87L probably benign Het
Or8d2b C A 9: 38,789,196 (GRCm39) H241Q probably benign Het
Plch2 A G 4: 155,091,577 (GRCm39) S179P probably damaging Het
Pogz T G 3: 94,785,558 (GRCm39) S838A possibly damaging Het
Polr1has CACCACCACCAC CACCACCACCACCACCACCACGACCACCACCAC 17: 37,275,952 (GRCm39) probably benign Het
Pot1b T A 17: 55,981,106 (GRCm39) T303S probably benign Het
Pou2f2 T A 7: 24,815,162 (GRCm39) I72L unknown Het
Ptpn4 A G 1: 119,612,195 (GRCm39) probably null Het
Ptprs A T 17: 56,723,935 (GRCm39) I1686N probably damaging Het
Rfx4 CTCTCT CTCTCTCTCTCTCTCTTTCTCT 10: 84,694,353 (GRCm39) probably benign Het
Rnf14 T A 18: 38,442,623 (GRCm39) V308E probably damaging Het
Setd1a TGGTGGTGG TGGTGGTGGGGGTGGTGG 7: 127,384,518 (GRCm39) probably benign Het
Sgo2b T C 8: 64,384,439 (GRCm39) T186A possibly damaging Het
Six3 CGG CGGTGG 17: 85,928,784 (GRCm39) probably benign Het
Six4 TG T 12: 73,150,356 (GRCm39) probably null Het
Spmap2l CAGCGATCCTCCCCAGTCCCGCA CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA 5: 77,164,247 (GRCm39) probably benign Het
Stox1 T A 10: 62,500,025 (GRCm39) H845L probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,086 (GRCm39) probably benign Het
Trappc9 A AGCTGCTGCTGCTGCT 15: 72,673,132 (GRCm39) probably benign Het
Trim33 T C 3: 103,236,408 (GRCm39) V506A possibly damaging Het
Uckl1 T C 2: 181,211,987 (GRCm39) D373G probably benign Het
Vmn2r94 G T 17: 18,473,549 (GRCm39) C492* probably null Het
Wdr33 A G 18: 32,014,326 (GRCm39) D396G probably damaging Het
Ypel1 C T 16: 16,915,282 (GRCm39) V109M probably damaging Het
Zbtb11 A T 16: 55,800,960 (GRCm39) I105L probably damaging Het
Zbtb40 A T 4: 136,744,617 (GRCm39) C268S probably benign Het
Zfp36l1 T A 12: 80,156,518 (GRCm39) M288L probably benign Het
Zfp384 CC CCAAGGCCCAGGAC 6: 125,013,429 (GRCm39) probably benign Het
Zfp87 A G 13: 74,523,173 (GRCm39) F15S probably benign 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
R4735:Edc4 UTSW 8 106,613,818 (GRCm39) missense probably damaging 1.00
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
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'- GGACATAACAAATGCTCCTGAGTAC -3'
(R):5'- AGTGAGGTACAGTGCTCTGC -3'

Sequencing Primer
(F):5'- ACAAATGCTCCTGAGTACTTTGTGG -3'
(R):5'- TCTGCGTCAGATCATCCATAAGAGAG -3'
Posted On 2019-12-04