Incidental Mutation 'R7787:Edc4'
ID 599595
Institutional Source Beutler Lab
Gene Symbol Edc4
Ensembl Gene ENSMUSG00000036270
Gene Name enhancer of mRNA decapping 4
Synonyms
MMRRC Submission 045843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7787 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106607506-106619857 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 106614146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 7 (Y7*)
Ref Sequence ENSEMBL: ENSMUSP00000118162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040254] [ENSMUST00000119261] [ENSMUST00000136048] [ENSMUST00000145618]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000040254
AA Change: Y432*
SMART Domains Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: Y432*

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 null
Transcript: ENSMUST00000119261
AA Change: Y432*
SMART Domains Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: Y432*

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 null
Transcript: ENSMUST00000132680
AA Change: Y11*
SMART Domains Protein: ENSMUSP00000114209
Gene: ENSMUSG00000036270
AA Change: Y11*

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 null
Transcript: ENSMUST00000136048
AA Change: Y372*
SMART Domains Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: Y372*

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 null
Transcript: ENSMUST00000145618
AA Change: Y7*
SMART Domains Protein: ENSMUSP00000118162
Gene: ENSMUSG00000036270
AA Change: Y7*

DomainStartEndE-ValueType
low complexity region 185 220 N/A INTRINSIC
low complexity region 240 261 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156357
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (74/74)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,263,926 (GRCm39) I38N probably damaging Het
Abcb4 G A 5: 8,959,220 (GRCm39) V216M probably damaging Het
Abcc2 G A 19: 43,772,685 (GRCm39) V32M probably damaging Het
Adgrb3 C A 1: 25,471,625 (GRCm39) V714F probably damaging Het
Ahnak T A 19: 8,986,679 (GRCm39) D2654E unknown Het
Ak8 T A 2: 28,602,324 (GRCm39) I86N probably damaging Het
Apob G A 12: 8,040,780 (GRCm39) R635Q probably damaging Het
Atp10b G A 11: 43,150,700 (GRCm39) R1466H possibly damaging Het
Bltp1 A C 3: 36,939,557 (GRCm39) H137P probably damaging Het
Btnl9 T C 11: 49,066,866 (GRCm39) T252A unknown Het
Cacna1e T A 1: 154,358,314 (GRCm39) I648F probably damaging Het
Camkk1 A G 11: 72,917,412 (GRCm39) D121G probably benign Het
Cc2d1a C A 8: 84,860,144 (GRCm39) Q904H possibly damaging Het
Cd1d1 A G 3: 86,904,903 (GRCm39) S212P probably damaging Het
Cfap69 C T 5: 5,639,260 (GRCm39) C638Y probably damaging Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Clca4a A G 3: 144,659,594 (GRCm39) V754A probably benign Het
Cnpy4 T A 5: 138,190,900 (GRCm39) H187Q probably benign Het
Cpne5 A T 17: 29,407,261 (GRCm39) probably null Het
Crnkl1 A T 2: 145,767,515 (GRCm39) N359K probably benign Het
Cyb561 A T 11: 105,828,466 (GRCm39) L63H probably damaging Het
Dock4 A G 12: 40,775,676 (GRCm39) T540A probably benign Het
Fstl5 A C 3: 76,337,131 (GRCm39) D230A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hecw1 T C 13: 14,493,494 (GRCm39) Q337R probably damaging Het
Hmcn1 A T 1: 150,632,343 (GRCm39) Y865N probably damaging Het
Hyal6 A G 6: 24,743,735 (GRCm39) Y477C probably damaging Het
Ifi205 C T 1: 173,842,640 (GRCm39) G352E probably damaging Het
Ifi205 T A 1: 173,842,644 (GRCm39) S351C probably damaging Het
Irak3 C A 10: 120,012,256 (GRCm39) Q169H probably benign Het
Itgb1 T A 8: 129,453,499 (GRCm39) N99K probably benign Het
Kng2 A G 16: 22,818,598 (GRCm39) F298S probably damaging Het
Kri1 T C 9: 21,192,380 (GRCm39) E256G Het
Lamc3 T C 2: 31,790,551 (GRCm39) I257T probably damaging Het
Mas1 A C 17: 13,061,374 (GRCm39) N16K possibly damaging Het
Mdn1 T A 4: 32,741,794 (GRCm39) L3855Q probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Mybph G A 1: 134,125,246 (GRCm39) G258D probably benign Het
Mycbp2 A C 14: 103,364,533 (GRCm39) H4358Q probably damaging Het
Nat10 T C 2: 103,552,208 (GRCm39) D1012G unknown Het
Nub1 C A 5: 24,913,801 (GRCm39) Q561K probably benign Het
Nynrin A G 14: 56,107,980 (GRCm39) N1029S probably benign Het
Or52x1 A T 7: 104,853,252 (GRCm39) C99* probably null Het
Or56a4 T G 7: 104,806,401 (GRCm39) I163L probably benign Het
Or5k15 A G 16: 58,709,953 (GRCm39) F210S probably benign Het
Or6e1 A G 14: 54,520,169 (GRCm39) L61P probably damaging Het
Or8g19 C T 9: 39,055,548 (GRCm39) L51F probably benign Het
Pcsk1 T A 13: 75,280,277 (GRCm39) Y701N possibly damaging Het
Pglyrp4 C G 3: 90,640,295 (GRCm39) H182D probably damaging Het
Phaf1 T G 8: 105,957,820 (GRCm39) V42G probably damaging Het
Pkp4 C A 2: 59,152,881 (GRCm39) D576E probably damaging Het
Plec A G 15: 76,083,811 (GRCm39) V17A unknown Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Pou4f1 A T 14: 104,703,460 (GRCm39) M324K unknown Het
Ppa2 G T 3: 133,036,259 (GRCm39) G138W probably damaging Het
Prob1 A T 18: 35,785,285 (GRCm39) F990I possibly damaging Het
Proser1 T A 3: 53,380,969 (GRCm39) I182N probably damaging Het
Sgk3 T C 1: 9,952,016 (GRCm39) L214P probably damaging Het
Sipa1l1 T C 12: 82,496,762 (GRCm39) S1765P possibly damaging Het
Slc15a2 G A 16: 36,572,228 (GRCm39) S712L probably benign Het
Slc38a9 T C 13: 112,825,880 (GRCm39) L106P probably damaging Het
Slc43a2 G A 11: 75,453,900 (GRCm39) R271H probably damaging Het
Spsb4 T A 9: 96,877,643 (GRCm39) I227F probably damaging Het
Srgap3 C T 6: 112,752,520 (GRCm39) M321I probably benign Het
Stam2 T C 2: 52,596,418 (GRCm39) I340V probably benign Het
Tbc1d5 T A 17: 51,181,711 (GRCm39) R341* probably null Het
Terf2ip A C 8: 112,742,087 (GRCm39) E260D probably damaging Het
Tert G T 13: 73,797,051 (GRCm39) K1096N probably damaging Het
Ttc32 T A 12: 9,088,083 (GRCm39) D103E probably benign Het
Ube3d T A 9: 86,254,395 (GRCm39) Q362L possibly damaging Het
Unc5c G A 3: 141,474,313 (GRCm39) G295D probably damaging Het
Wnt7b T A 15: 85,428,112 (GRCm39) I117F probably damaging Het
Zcchc7 T C 4: 44,895,043 (GRCm39) probably null Het
Zfp619 A G 7: 39,186,226 (GRCm39) Q752R possibly damaging Het
Zkscan3 T C 13: 21,572,034 (GRCm39) K533E 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
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
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'- TTCAGCTCAGTGAGTGTGC -3'
(R):5'- CAACGTATAATCCTGCCCCTG -3'

Sequencing Primer
(F):5'- TCAGTGAGTGTGCCTCCCAG -3'
(R):5'- TGGGCAACTCACCGGTC -3'
Posted On 2019-11-26