Incidental Mutation 'R8900:Edc4'
ID 679912
Institutional Source Beutler Lab
Gene Symbol Edc4
Ensembl Gene ENSMUSG00000036270
Gene Name enhancer of mRNA decapping 4
Synonyms
MMRRC Submission 068757-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8900 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106607506-106619857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 106617857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 1139 (Q1139P)
Ref Sequence ENSEMBL: ENSMUSP00000113854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040254] [ENSMUST00000060167] [ENSMUST00000118920] [ENSMUST00000119261] [ENSMUST00000136048] [ENSMUST00000145618]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040254
AA Change: Q1155P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: Q1155P

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: ENSMUST00000060167
SMART Domains Protein: ENSMUSP00000056940
Gene: ENSMUSG00000044287

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:NRN1 39 118 2.1e-28 PFAM
transmembrane domain 139 161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118920
SMART Domains Protein: ENSMUSP00000113445
Gene: ENSMUSG00000044287

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:NRN1 38 120 3.4e-27 PFAM
transmembrane domain 138 160 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119261
AA Change: Q1139P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: Q1139P

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
SMART Domains Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: Q1103P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,045,218 (GRCm39) T372A probably benign Het
Adamts8 C A 9: 30,865,930 (GRCm39) R493S probably benign Het
Ankrd33b G A 15: 31,297,830 (GRCm39) T309I probably damaging Het
Arhgap22 G A 14: 32,993,880 (GRCm39) W58* probably null Het
B4galt4 C T 16: 38,572,404 (GRCm39) probably benign Het
Bcl2a1a A T 9: 88,839,311 (GRCm39) I70L probably benign Het
Bst1 A G 5: 43,977,942 (GRCm39) D97G possibly damaging Het
Cand2 C T 6: 115,757,894 (GRCm39) T52M probably benign Het
Cd101 C A 3: 100,926,062 (GRCm39) R219L probably benign Het
Cd5l T A 3: 87,274,882 (GRCm39) D140E probably benign Het
Cdcp3 A T 7: 130,904,197 (GRCm39) probably benign Het
Cebpa A G 7: 34,819,906 (GRCm39) M355V possibly damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Clec4a4 A G 6: 123,000,875 (GRCm39) E196G probably damaging Het
Cpxm1 T A 2: 130,235,360 (GRCm39) D544V probably damaging Het
Cwf19l2 T A 9: 3,447,245 (GRCm39) D535E probably benign Het
Daw1 T G 1: 83,175,898 (GRCm39) L212R probably benign Het
Dnm3 T A 1: 162,135,445 (GRCm39) T443S probably benign Het
Dock9 T C 14: 121,817,940 (GRCm39) D1627G probably damaging Het
Dohh A G 10: 81,223,735 (GRCm39) I263V probably benign Het
Dsp G A 13: 38,365,155 (GRCm39) V513M probably damaging Het
Dus4l G T 12: 31,690,692 (GRCm39) L320I possibly damaging Het
Fam220a T A 5: 143,549,228 (GRCm39) C213* probably null Het
Fgf14 A T 14: 124,221,326 (GRCm39) Y159* probably null Het
Gm45861 A T 8: 28,019,632 (GRCm39) D749V unknown Het
Hip1 T C 5: 135,459,144 (GRCm39) T203A probably benign Het
Igfals A G 17: 25,099,014 (GRCm39) D35G possibly damaging Het
Itga4 T A 2: 79,145,332 (GRCm39) I716K probably damaging Het
Ncaph2 T A 15: 89,253,594 (GRCm39) I282N probably benign Het
Ndufb3 T C 1: 58,634,824 (GRCm39) Y59H probably damaging Het
Nxpe3 T C 16: 55,665,023 (GRCm39) H399R probably damaging Het
Nxph1 T C 6: 9,247,601 (GRCm39) S191P probably damaging Het
Or13c7e-ps1 G T 4: 43,781,432 (GRCm39) S299R probably benign Het
Or1p1 T C 11: 74,180,413 (GRCm39) S314P probably damaging Het
Pcdha11 T G 18: 37,145,799 (GRCm39) I630S probably damaging Het
Pfkl C G 10: 77,836,615 (GRCm39) G134A probably damaging Het
Phf19 A T 2: 34,795,484 (GRCm39) C196S probably damaging Het
Piezo2 T C 18: 63,248,096 (GRCm39) K468R probably benign Het
Plekhn1 T C 4: 156,310,078 (GRCm39) S79G possibly damaging Het
Pomk A G 8: 26,473,384 (GRCm39) Y190H possibly damaging Het
Ppp1r13b T A 12: 111,838,778 (GRCm39) E33D probably damaging Het
Raly A T 2: 154,705,493 (GRCm39) I174F probably damaging Het
Rint1 T C 5: 24,016,882 (GRCm39) V549A possibly damaging Het
Rnf31 T G 14: 55,833,689 (GRCm39) C566G probably damaging Het
Scart1 G A 7: 139,808,478 (GRCm39) W796* probably null Het
Sdc1 C T 12: 8,840,460 (GRCm39) T79I possibly damaging Het
Sema6a T G 18: 47,424,182 (GRCm39) E242A probably damaging Het
Slc22a30 A C 19: 8,315,340 (GRCm39) M430R probably damaging Het
Sp9 C A 2: 73,103,863 (GRCm39) T139K probably benign Het
Tbkbp1 T C 11: 97,040,327 (GRCm39) D29G probably benign Het
Tcf4 T C 18: 69,697,761 (GRCm39) probably benign Het
Tenm3 A T 8: 48,689,437 (GRCm39) I2050N probably damaging Het
Tiparp T A 3: 65,460,603 (GRCm39) F531I probably damaging Het
Tmem132b A T 5: 125,855,884 (GRCm39) I539F probably damaging Het
Ttf2 T C 3: 100,859,956 (GRCm39) D666G probably damaging Het
Vmn1r51 T C 6: 90,106,842 (GRCm39) S253P probably damaging Het
Vmn2r104 A G 17: 20,261,924 (GRCm39) I402T probably damaging Het
Vmn2r16 T C 5: 109,511,619 (GRCm39) Y609H probably benign Het
Vmn2r17 A T 5: 109,575,863 (GRCm39) M245L probably benign Het
Vmn2r42 C T 7: 8,197,792 (GRCm39) E276K probably benign Het
Wdr75 C A 1: 45,838,287 (GRCm39) N65K probably damaging Het
Zbtb47 A C 9: 121,596,705 (GRCm39) K687T probably damaging Het
Zfhx4 T C 3: 5,463,924 (GRCm39) S1361P probably damaging Het
Zfp317 T A 9: 19,558,708 (GRCm39) C396* probably null 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
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'- ACTGCCAGCTTTTGAGAAGAG -3'
(R):5'- AGATTGACTCCTGCAAGCTG -3'

Sequencing Primer
(F):5'- CCAGCTTTTGAGAAGAGTTGCCAG -3'
(R):5'- GAGCTTTGCCCACACACCTG -3'
Posted On 2021-08-31