Incidental Mutation 'R2092:Edc4'
ID 231849
Institutional Source Beutler Lab
Gene Symbol Edc4
Ensembl Gene ENSMUSG00000036270
Gene Name enhancer of mRNA decapping 4
Synonyms
MMRRC Submission 040097-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2092 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106607506-106619857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106614160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 12 (L12Q)
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 possibly damaging
Transcript: ENSMUST00000040254
AA Change: L437Q

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: L437Q

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 possibly damaging
Transcript: ENSMUST00000119261
AA Change: L437Q

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: L437Q

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 damaging
Transcript: ENSMUST00000132680
AA Change: L16Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114209
Gene: ENSMUSG00000036270
AA Change: L16Q

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 possibly damaging
Transcript: ENSMUST00000136048
AA Change: L377Q

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: L377Q

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 damaging
Transcript: ENSMUST00000145618
AA Change: L12Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118162
Gene: ENSMUSG00000036270
AA Change: L12Q

DomainStartEndE-ValueType
low complexity region 185 220 N/A INTRINSIC
low complexity region 240 261 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156357
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,651,896 (GRCm39) C1321* probably null Het
Abca8b A G 11: 109,857,534 (GRCm39) F673L possibly damaging Het
Adam19 T G 11: 45,951,731 (GRCm39) probably null Het
AI987944 T C 7: 41,024,041 (GRCm39) T313A possibly damaging Het
Akap13 A T 7: 75,260,318 (GRCm39) I178F probably benign Het
Alb G GA 5: 90,611,842 (GRCm39) probably null Het
Bod1l A G 5: 41,988,860 (GRCm39) S416P probably damaging Het
Casr A T 16: 36,330,405 (GRCm39) Y310N possibly damaging Het
Cela3a T C 4: 137,131,737 (GRCm39) N152S probably benign Het
Chrdl2 T A 7: 99,670,184 (GRCm39) C102* probably null Het
Col4a4 G A 1: 82,476,667 (GRCm39) S554L unknown Het
Col6a4 T C 9: 105,937,530 (GRCm39) K1392R probably damaging Het
Dab1 T G 4: 104,535,974 (GRCm39) Y128D probably damaging Het
Dars1 A T 1: 128,301,755 (GRCm39) M293K probably damaging Het
Dlec1 T C 9: 118,950,912 (GRCm39) F493L possibly damaging Het
Dmbt1 G T 7: 130,651,748 (GRCm39) W330L probably damaging Het
Dnah11 A T 12: 117,976,451 (GRCm39) M831K possibly damaging Het
Dock7 T C 4: 98,897,545 (GRCm39) N715S possibly damaging Het
Edem2 T C 2: 155,550,969 (GRCm39) M333V probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fto C A 8: 92,136,315 (GRCm39) Y194* probably null Het
Gnptab T G 10: 88,276,167 (GRCm39) Y1151* probably null Het
Grm1 A G 10: 10,564,969 (GRCm39) L1113P probably benign Het
Hnrnpa0 T C 13: 58,275,614 (GRCm39) K172E probably damaging Het
Ifitm1 A G 7: 140,549,427 (GRCm39) D70G probably damaging Het
Irx4 C A 13: 73,413,605 (GRCm39) T25K probably damaging Het
Kif22 C T 7: 126,632,802 (GRCm39) D195N probably damaging Het
Lrp2 C T 2: 69,366,365 (GRCm39) D245N probably benign Het
Lyz1 C T 10: 117,124,504 (GRCm39) R144Q probably benign Het
Macf1 T A 4: 123,276,971 (GRCm39) T6055S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Myh9 G A 15: 77,648,550 (GRCm39) Q80* probably null Het
Myo6 G T 9: 80,152,964 (GRCm39) R199L probably damaging Het
Naglu G A 11: 100,967,546 (GRCm39) V499I possibly damaging Het
Nfkbie T C 17: 45,869,465 (GRCm39) F140S probably benign Het
Or4p8 A G 2: 88,727,611 (GRCm39) F110S probably damaging Het
Or52ab7 G A 7: 102,978,316 (GRCm39) V208M probably damaging Het
Or52z1 A T 7: 103,437,279 (GRCm39) F68L possibly damaging Het
Or5b102 T A 19: 13,041,166 (GRCm39) Y130* probably null Het
Or5p81 CAAATA CA 7: 108,266,869 (GRCm39) probably null Het
Or8g21 A T 9: 38,906,485 (GRCm39) L82Q probably damaging Het
Otop1 A T 5: 38,457,110 (GRCm39) I290F probably damaging Het
P2rx2 C T 5: 110,489,007 (GRCm39) D203N probably damaging Het
Pcdhb10 T A 18: 37,547,240 (GRCm39) I772N probably benign Het
Pnliprp1 A G 19: 58,729,616 (GRCm39) H423R probably benign Het
Ptk2 A T 15: 73,108,040 (GRCm39) Y56* probably null Het
Rapgef3 T C 15: 97,658,604 (GRCm39) D134G probably damaging Het
Scaf11 A C 15: 96,313,708 (GRCm39) S1358A probably damaging Het
Scn9a T C 2: 66,363,720 (GRCm39) M844V probably damaging Het
Sh3tc1 T C 5: 35,858,002 (GRCm39) E1121G probably damaging Het
Slc25a15 T C 8: 22,870,950 (GRCm39) T176A probably damaging Het
Slc29a4 T A 5: 142,704,610 (GRCm39) I384N probably damaging Het
Slc40a1 A T 1: 45,948,614 (GRCm39) D555E probably benign Het
Smc5 T C 19: 23,216,263 (GRCm39) I446V probably benign Het
St6gal2 T C 17: 55,817,267 (GRCm39) Y477H probably damaging Het
Syngr1 A T 15: 80,000,141 (GRCm39) Q84L possibly damaging Het
Tedc1 T C 12: 113,121,340 (GRCm39) L187P probably damaging Het
Tg A G 15: 66,721,456 (GRCm39) I322V probably null Het
Thap12 T C 7: 98,365,656 (GRCm39) V608A possibly damaging Het
Tmbim6 T C 15: 99,299,949 (GRCm39) S22P probably damaging Het
Ttc3 C T 16: 94,243,691 (GRCm39) P1232S probably benign Het
Upk3a A G 15: 84,902,286 (GRCm39) T38A probably damaging Het
Utrn A T 10: 12,554,442 (GRCm39) M1549K probably benign Het
Vmn1r176 C T 7: 23,534,578 (GRCm39) D192N probably damaging Het
Vmn1r198 A G 13: 22,538,885 (GRCm39) T35A possibly damaging Het
Xkr7 C T 2: 152,895,983 (GRCm39) S279L probably damaging Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp641 G T 15: 98,191,593 (GRCm39) T31N probably benign Het
Zfp74 G A 7: 29,653,349 (GRCm39) 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
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
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'- CTTCAGCTCAGTGAGTGTGC -3'
(R):5'- AACGTATAATCCTGCCCCTG -3'

Sequencing Primer
(F):5'- AGCCTCAAAGTTTGTTTGGACC -3'
(R):5'- TGGGCAACTCACCGGTC -3'
Posted On 2014-09-18