Incidental Mutation 'R7430:Edc4'
ID 576399
Institutional Source Beutler Lab
Gene Symbol Edc4
Ensembl Gene ENSMUSG00000036270
Gene Name enhancer of mRNA decapping 4
Synonyms
MMRRC Submission 045508-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106607506-106619857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106618216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1245 (S1245P)
Ref Sequence ENSEMBL: ENSMUSP00000039134 (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: S1245P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: S1245P

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: S1229P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: S1229P

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: S1193P

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: S1193P

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
Meta Mutation Damage Score 0.2483 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G C 17: 24,583,932 (GRCm39) probably null Het
Ankrd17 C G 5: 90,443,516 (GRCm39) E384Q possibly damaging Het
Atp8b4 A T 2: 126,245,291 (GRCm39) V286E possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTC ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC 3: 95,795,481 (GRCm39) probably benign Het
Brms1l T C 12: 55,892,084 (GRCm39) L126P probably damaging Het
C2cd4d G A 3: 94,271,657 (GRCm39) V308M possibly damaging Het
Calcr A G 6: 3,708,586 (GRCm39) L200S probably damaging Het
Card6 G T 15: 5,128,682 (GRCm39) Q905K probably benign Het
Chka A G 19: 3,942,787 (GRCm39) Y415C probably damaging Het
Cimap3 T C 3: 105,921,834 (GRCm39) R30G probably benign Het
Cnih1 C T 14: 47,017,679 (GRCm39) V52I possibly damaging Het
Cox4i1 T A 8: 121,400,770 (GRCm39) M145K probably damaging Het
Cubn G T 2: 13,327,804 (GRCm39) R2674S possibly damaging Het
Cyfip1 A G 7: 55,550,341 (GRCm39) E692G probably damaging Het
Dnah8 T C 17: 30,925,363 (GRCm39) F1266S probably damaging Het
Enpp1 G T 10: 24,587,848 (GRCm39) H14Q probably benign Het
Fam181b G A 7: 92,729,403 (GRCm39) V59M probably benign Het
Fat4 T A 3: 38,941,599 (GRCm39) I164N probably damaging Het
Fat4 A G 3: 39,063,793 (GRCm39) D4583G probably damaging Het
Fgb C T 3: 82,954,014 (GRCm39) V75I probably benign Het
Fign T C 2: 63,809,404 (GRCm39) D622G probably damaging Het
Frmd3 A G 4: 74,063,342 (GRCm39) D223G probably damaging Het
Gclm G A 3: 122,039,729 (GRCm39) R32Q probably benign Het
Grsf1 A T 5: 88,811,086 (GRCm39) I428N possibly damaging Het
Hnrnpll T A 17: 80,357,276 (GRCm39) I247F probably damaging Het
Hscb T A 5: 110,977,024 (GRCm39) I223L probably benign Het
Ifi204 C T 1: 173,583,247 (GRCm39) A324T probably benign Het
Itgav G A 2: 83,624,602 (GRCm39) V731M probably damaging Het
Loricrin C T 3: 91,989,206 (GRCm39) G27S unknown Het
Lpin3 A G 2: 160,740,586 (GRCm39) D377G probably benign Het
Marveld3 A G 8: 110,675,100 (GRCm39) S239P possibly damaging Het
Mast3 A C 8: 71,232,947 (GRCm39) C1122G probably damaging Het
Ms4a4d A G 19: 11,535,297 (GRCm39) I198M probably benign Het
Mup14 C T 4: 61,259,447 (GRCm39) G35E probably damaging Het
Myh1 C T 11: 67,096,393 (GRCm39) Q291* probably null Het
Myo1a T A 10: 127,542,716 (GRCm39) V118E probably damaging Het
Nfatc3 A G 8: 106,835,035 (GRCm39) T794A probably benign Het
Nkx6-2 T C 7: 139,161,916 (GRCm39) T154A probably damaging Het
Or51g2 A T 7: 102,622,969 (GRCm39) S77T probably damaging Het
Or7g16 T C 9: 18,726,650 (GRCm39) *313W probably null Het
Ovgp1 G C 3: 105,893,618 (GRCm39) A464P probably damaging Het
Ovgp1 C T 3: 105,893,619 (GRCm39) A464V possibly damaging Het
Pde6c T A 19: 38,129,887 (GRCm39) Y266N probably damaging Het
Per2 C A 1: 91,351,705 (GRCm39) E934* probably null Het
Pgm1 T A 4: 99,813,192 (GRCm39) M1K probably null Het
Plcb4 T C 2: 135,810,242 (GRCm39) Y626H probably damaging Het
Postn T A 3: 54,277,623 (GRCm39) V206D probably damaging Het
Prss29 T A 17: 25,540,113 (GRCm39) probably null Het
Ptges3l C A 11: 101,314,641 (GRCm39) V85L possibly damaging Het
Riok2 T C 17: 17,607,802 (GRCm39) L450S probably benign Het
Rpap3 A T 15: 97,586,031 (GRCm39) L320Q possibly damaging Het
Rptor T C 11: 119,737,654 (GRCm39) W576R probably damaging Het
Sgk3 A G 1: 9,942,483 (GRCm39) D85G probably benign Het
Slc2a1 A G 4: 118,993,510 (GRCm39) Y449C probably damaging Het
Slco1a5 A T 6: 142,194,438 (GRCm39) S402T probably benign Het
Smad2 T A 18: 76,421,151 (GRCm39) V160E probably damaging Het
Snx13 T C 12: 35,183,357 (GRCm39) V760A possibly damaging Het
Sugt1 T A 14: 79,857,241 (GRCm39) probably null Het
Syne2 C T 12: 75,980,770 (GRCm39) T1509M probably damaging Het
Syne2 T A 12: 76,087,184 (GRCm39) L214* probably null Het
Tmem120a T A 5: 135,764,990 (GRCm39) probably null Het
Tmem161b A G 13: 84,430,866 (GRCm39) probably null Het
Trim33 T C 3: 103,218,219 (GRCm39) I256T possibly damaging Het
Tspan17 G A 13: 54,943,785 (GRCm39) E213K probably benign Het
Ttc6 T A 12: 57,704,888 (GRCm39) I631N probably benign Het
Ttn T A 2: 76,641,283 (GRCm39) L13574F probably damaging Het
Tufm A G 7: 126,088,299 (GRCm39) D228G probably benign Het
Usf1 T A 1: 171,245,295 (GRCm39) S236T probably benign Het
Usp39 T C 6: 72,319,900 (GRCm39) Y106C probably damaging Het
Usp46 T A 5: 74,163,849 (GRCm39) Y296F probably damaging Het
Vmn2r82 A G 10: 79,217,087 (GRCm39) N473S probably damaging Het
Washc5 A T 15: 59,241,762 (GRCm39) Y51* probably null Het
Zbtb47 G A 9: 121,592,732 (GRCm39) D351N probably benign Het
Zfp763 T A 17: 33,238,506 (GRCm39) Y213F possibly damaging Het
Zswim5 A G 4: 116,833,054 (GRCm39) T596A 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
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'- TATCTAGCAGTGTTCGGGCC -3'
(R):5'- GTCAAGTGCTACTCAATCACTAAGAC -3'

Sequencing Primer
(F):5'- TGCAACACCAGCTGCATGTG -3'
(R):5'- GACCTAACACTATCATACCTGCTGG -3'
Posted On 2019-10-07