Incidental Mutation 'R5996:Edc4'
ID 481130
Institutional Source Beutler Lab
Gene Symbol Edc4
Ensembl Gene ENSMUSG00000036270
Gene Name enhancer of mRNA decapping 4
Synonyms
MMRRC Submission 044175-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5996 (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 G at 106614033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 429 (K429E)
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 damaging
Transcript: ENSMUST00000040254
AA Change: K429E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: K429E

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: K429E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: K429E

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 unknown
Transcript: ENSMUST00000132680
AA Change: K8E
SMART Domains Protein: ENSMUSP00000114209
Gene: ENSMUSG00000036270
AA Change: K8E

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 damaging
Transcript: ENSMUST00000136048
AA Change: K369E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: K369E

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 possibly damaging
Transcript: ENSMUST00000145618
AA Change: K4E

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118162
Gene: ENSMUSG00000036270
AA Change: K4E

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 0.4431 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 97% (69/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A G 11: 23,468,928 (GRCm39) M1T probably null Het
A2m T A 6: 121,636,353 (GRCm39) W741R probably damaging Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acan A G 7: 78,761,068 (GRCm39) T1927A probably damaging Het
Agbl4 A G 4: 110,812,869 (GRCm39) probably null Het
Bltp1 T C 3: 36,985,265 (GRCm39) F865S probably benign Het
Ccr8 T A 9: 119,923,529 (GRCm39) C215S probably damaging Het
Cd209b T C 8: 3,968,688 (GRCm39) T314A probably benign Het
Cd244a T G 1: 171,409,208 (GRCm39) probably null Het
Cdh23 T C 10: 60,249,356 (GRCm39) E849G possibly damaging Het
Cep57 A G 9: 13,721,175 (GRCm39) V268A probably damaging Het
Clip4 T C 17: 72,163,305 (GRCm39) S626P probably damaging Het
Col19a1 C T 1: 24,367,152 (GRCm39) G477R probably damaging Het
Col4a4 T C 1: 82,433,449 (GRCm39) D1498G unknown Het
Coro6 T C 11: 77,357,322 (GRCm39) V177A probably benign Het
Crip3 T C 17: 46,742,210 (GRCm39) S202P possibly damaging Het
Cxcr2 T C 1: 74,197,619 (GRCm39) C38R probably damaging Het
Cyp4f13 C T 17: 33,148,447 (GRCm39) G327R possibly damaging Het
Dab2 C T 15: 6,464,792 (GRCm39) Q415* probably null Het
Dennd5b A G 6: 148,969,593 (GRCm39) F287L probably benign Het
Dlg4 G A 11: 69,908,057 (GRCm39) R6K probably benign Het
Fam107b T A 2: 3,780,667 (GRCm39) probably null Het
Flt4 A T 11: 49,541,897 (GRCm39) D1360V probably damaging Het
Gm1043 A T 5: 37,317,168 (GRCm39) probably benign Het
Gm4894 A T 9: 49,189,970 (GRCm39) I82L unknown Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Gpr176 A C 2: 118,114,385 (GRCm39) probably null Het
Gtse1 T C 15: 85,748,381 (GRCm39) L262P probably benign Het
Il4ra T C 7: 125,166,393 (GRCm39) W46R probably damaging Het
Itga11 A G 9: 62,662,955 (GRCm39) Y557C probably benign Het
Kcnab2 A C 4: 152,519,287 (GRCm39) probably null Het
Kcnh7 G A 2: 63,014,441 (GRCm39) probably benign Het
Ly9 T A 1: 171,429,396 (GRCm39) Q230L probably damaging Het
Map2 C A 1: 66,454,043 (GRCm39) H978N possibly damaging Het
Map2k6 A G 11: 110,388,732 (GRCm39) I225V possibly damaging Het
Map3k13 A G 16: 21,723,995 (GRCm39) N326D possibly damaging Het
Mdga2 A G 12: 66,844,537 (GRCm39) F85L probably benign Het
Mmp13 C T 9: 7,274,269 (GRCm39) P192L probably damaging Het
Mrpl37 T C 4: 106,923,704 (GRCm39) T97A probably benign Het
Mycbpap C T 11: 94,404,420 (GRCm39) G121D probably benign Het
Nabp1 A G 1: 51,510,544 (GRCm39) S153P probably benign Het
Nsun3 A T 16: 62,590,049 (GRCm39) F222I probably benign Het
Or4q3 A G 14: 50,582,969 (GRCm39) V310A possibly damaging Het
Pcdhga4 A T 18: 37,818,991 (GRCm39) D180V probably benign Het
Pex6 C A 17: 47,025,384 (GRCm39) probably null Het
Phrf1 C A 7: 140,839,015 (GRCm39) probably benign Het
Ppp1r36 A G 12: 76,485,936 (GRCm39) T365A possibly damaging Het
Ranbp10 A G 8: 106,499,672 (GRCm39) M519T probably benign Het
Rfx4 G A 10: 84,675,881 (GRCm39) W32* probably null Het
Ryr1 T C 7: 28,723,666 (GRCm39) N4131S probably benign Het
Slc27a6 A G 18: 58,745,306 (GRCm39) E580G possibly damaging Het
Slc7a14 T C 3: 31,263,385 (GRCm39) D719G probably benign Het
Slfn9 A G 11: 82,878,310 (GRCm39) I273T possibly damaging Het
Spice1 A G 16: 44,205,037 (GRCm39) E781G probably benign Het
Sspo C T 6: 48,471,110 (GRCm39) P4686S possibly damaging Het
Stab1 G T 14: 30,861,508 (GRCm39) R2500S probably benign Het
Stox2 A T 8: 47,656,182 (GRCm39) M98K possibly damaging Het
Tacc2 T C 7: 130,225,213 (GRCm39) S633P probably damaging Het
Tex51 G T 18: 32,595,545 (GRCm39) probably benign Het
Tm9sf4 T C 2: 153,037,491 (GRCm39) probably null Het
Togaram2 T A 17: 72,011,778 (GRCm39) F486I probably damaging Het
Trappc12 A G 12: 28,797,113 (GRCm39) S140P possibly damaging Het
Ttc29 A T 8: 79,003,525 (GRCm39) N247I probably damaging Het
Uso1 A T 5: 92,340,589 (GRCm39) E668D probably benign Het
Vmn2r69 A T 7: 85,061,117 (GRCm39) probably null Het
Xirp2 T A 2: 67,341,994 (GRCm39) L1412I possibly damaging Het
Xrcc5 T A 1: 72,349,617 (GRCm39) D15E probably damaging Het
Zfp661 T C 2: 127,418,968 (GRCm39) K391E probably damaging Het
Zfp729b A G 13: 67,741,977 (GRCm39) I106T probably benign Het
Zfyve9 A C 4: 108,576,557 (GRCm39) S175A 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
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'- AGCTGAAGATGTGGTGCAC -3'
(R):5'- TAGAACTAAAGCACGCGCG -3'

Sequencing Primer
(F):5'- TGCCTGCAAACCATTCGG -3'
(R):5'- GGCCCTCGTCCTGGTTCTG -3'
Posted On 2017-06-26