Incidental Mutation 'R6646:Dedd2'
ID 527973
Institutional Source Beutler Lab
Gene Symbol Dedd2
Ensembl Gene ENSMUSG00000054499
Gene Name death effector domain-containing DNA binding protein 2
Synonyms FLAME-3, 2410050E11Rik
MMRRC Submission 044767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R6646 (G1)
Quality Score 166.009
Status Validated
Chromosome 7
Chromosomal Location 24899337-24920035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24903038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 307 (D307G)
Ref Sequence ENSEMBL: ENSMUSP00000146052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058702] [ENSMUST00000205271]
AlphaFold Q8QZV0
Predicted Effect probably damaging
Transcript: ENSMUST00000058702
AA Change: D307G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049763
Gene: ENSMUSG00000054499
AA Change: D307G

DomainStartEndE-ValueType
DED 24 104 6.34e-13 SMART
low complexity region 130 147 N/A INTRINSIC
low complexity region 157 182 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205271
AA Change: D307G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206750
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,577,343 (GRCm39) N48K probably benign Het
Aldh1a7 C T 19: 20,677,275 (GRCm39) A449T possibly damaging Het
Arhgef28 A G 13: 98,076,002 (GRCm39) V1344A probably benign Het
Carmil3 A T 14: 55,745,387 (GRCm39) E1371D probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Dennd6b G T 15: 89,070,387 (GRCm39) F427L probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Doc2a G A 7: 126,450,791 (GRCm39) probably null Het
Dst A G 1: 34,307,888 (GRCm39) T6503A possibly damaging Het
Ehmt1 A T 2: 24,696,322 (GRCm39) I922K probably damaging Het
Gbp9 A G 5: 105,230,769 (GRCm39) I385T probably benign Het
Gipc2 A T 3: 151,799,838 (GRCm39) D297E possibly damaging Het
Krt6b T A 15: 101,585,649 (GRCm39) Q428L probably damaging Het
Loxl4 T C 19: 42,587,220 (GRCm39) D625G probably damaging Het
Lrrn2 C T 1: 132,866,794 (GRCm39) P620S probably benign Het
Msh6 T C 17: 88,293,870 (GRCm39) V875A possibly damaging Het
Nebl T C 2: 17,381,496 (GRCm39) T727A probably damaging Het
Obscn T C 11: 58,973,544 (GRCm39) D1929G possibly damaging Het
Pard3b T C 1: 62,200,280 (GRCm39) V273A probably benign Het
Pcdhb7 T A 18: 37,477,027 (GRCm39) V721E possibly damaging Het
Plaa A T 4: 94,478,215 (GRCm39) H82Q probably benign Het
Plcd1 T A 9: 118,904,100 (GRCm39) Y278F probably damaging Het
Plxnb1 C A 9: 108,937,895 (GRCm39) H1214N probably benign Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Rela T G 19: 5,697,132 (GRCm39) D446E probably damaging Het
Rpap1 T C 2: 119,610,612 (GRCm39) I156V probably benign Het
Rpl15 T C 14: 18,270,040 (GRCm38) Y59C probably damaging Het
Scx C A 15: 76,342,121 (GRCm39) T107N probably damaging Het
Skint5 T A 4: 113,797,974 (GRCm39) K203I possibly damaging Het
Slc16a6 C T 11: 109,343,988 (GRCm39) M518I probably benign Het
Sorbs1 C T 19: 40,313,993 (GRCm39) G940R probably damaging Het
Spata31h1 T A 10: 82,132,664 (GRCm39) E115D unknown Het
Synm A T 7: 67,384,875 (GRCm39) I487K probably damaging Het
Tcerg1l A T 7: 137,996,912 (GRCm39) probably null Het
Vmn2r99 T G 17: 19,600,293 (GRCm39) L439R probably damaging Het
Wdr75 T A 1: 45,838,247 (GRCm39) L52Q probably damaging Het
Zswim2 T A 2: 83,746,128 (GRCm39) R437* probably null Het
Other mutations in Dedd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0346:Dedd2 UTSW 7 24,910,694 (GRCm39) missense possibly damaging 0.46
R0480:Dedd2 UTSW 7 24,903,050 (GRCm39) missense probably damaging 1.00
R0838:Dedd2 UTSW 7 24,910,612 (GRCm39) missense probably benign 0.10
R5000:Dedd2 UTSW 7 24,903,068 (GRCm39) missense possibly damaging 0.91
R5085:Dedd2 UTSW 7 24,918,411 (GRCm39) missense probably damaging 1.00
R6082:Dedd2 UTSW 7 24,910,715 (GRCm39) missense probably benign 0.02
R6083:Dedd2 UTSW 7 24,910,715 (GRCm39) missense probably benign 0.02
R6084:Dedd2 UTSW 7 24,910,715 (GRCm39) missense probably benign 0.02
R6264:Dedd2 UTSW 7 24,903,215 (GRCm39) missense possibly damaging 0.84
R6733:Dedd2 UTSW 7 24,903,332 (GRCm39) missense probably benign 0.30
R7267:Dedd2 UTSW 7 24,918,391 (GRCm39) missense probably damaging 0.99
R8465:Dedd2 UTSW 7 24,918,331 (GRCm39) missense probably damaging 0.99
R8807:Dedd2 UTSW 7 24,910,705 (GRCm39) missense probably benign 0.01
R9068:Dedd2 UTSW 7 24,917,092 (GRCm39) missense probably benign
Z1176:Dedd2 UTSW 7 24,903,023 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTCCTCAAGCTGCTGAATGTC -3'
(R):5'- CTGGATGTGTTTGGACAAGC -3'

Sequencing Primer
(F):5'- AATGTCAGACGTCTGGGGGC -3'
(R):5'- TCAAGGGACCTGGGCTCTG -3'
Posted On 2018-07-24