Incidental Mutation 'IGL03105:Dedd'
ID 418907
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dedd
Ensembl Gene ENSMUSG00000013973
Gene Name death effector domain-containing
Synonyms DEFT, Dedpro1, KE05, FLDED1, CASP8IP1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # IGL03105
Quality Score
Status
Chromosome 1
Chromosomal Location 171156713-171169899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 171168486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 224 (R224H)
Ref Sequence ENSEMBL: ENSMUSP00000120278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006579] [ENSMUST00000064950] [ENSMUST00000097467] [ENSMUST00000111289] [ENSMUST00000111295] [ENSMUST00000111296] [ENSMUST00000111299] [ENSMUST00000129116] [ENSMUST00000111300] [ENSMUST00000135150] [ENSMUST00000142063] [ENSMUST00000127830] [ENSMUST00000148339] [ENSMUST00000135941] [ENSMUST00000157015] [ENSMUST00000156856]
AlphaFold Q9Z1L3
Predicted Effect probably benign
Transcript: ENSMUST00000006579
SMART Domains Protein: ENSMUSP00000006579
Gene: ENSMUSG00000006412

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Prefoldin_2 18 93 3e-24 PFAM
low complexity region 102 117 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000064950
AA Change: R224H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068419
Gene: ENSMUSG00000013973
AA Change: R224H

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097467
AA Change: R224H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095075
Gene: ENSMUSG00000013973
AA Change: R224H

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111289
SMART Domains Protein: ENSMUSP00000106920
Gene: ENSMUSG00000013997

DomainStartEndE-ValueType
Pfam:CN_hydrolase 11 191 1.6e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111295
SMART Domains Protein: ENSMUSP00000106926
Gene: ENSMUSG00000013997

DomainStartEndE-ValueType
Pfam:CN_hydrolase 44 224 6.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111296
SMART Domains Protein: ENSMUSP00000106927
Gene: ENSMUSG00000013997

DomainStartEndE-ValueType
Pfam:CN_hydrolase 44 224 1.4e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111299
AA Change: R224H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106930
Gene: ENSMUSG00000013973
AA Change: R224H

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129116
AA Change: R224H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120278
Gene: ENSMUSG00000013973
AA Change: R224H

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111300
AA Change: R224H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106931
Gene: ENSMUSG00000013973
AA Change: R224H

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136339
Predicted Effect probably benign
Transcript: ENSMUST00000135150
Predicted Effect probably benign
Transcript: ENSMUST00000142063
SMART Domains Protein: ENSMUSP00000120861
Gene: ENSMUSG00000013973

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127830
SMART Domains Protein: ENSMUSP00000122628
Gene: ENSMUSG00000013973

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148339
SMART Domains Protein: ENSMUSP00000119171
Gene: ENSMUSG00000013997

DomainStartEndE-ValueType
Pfam:CN_hydrolase 11 87 8.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135941
SMART Domains Protein: ENSMUSP00000120106
Gene: ENSMUSG00000006412

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:Prefoldin_2 24 129 3.3e-32 PFAM
low complexity region 139 150 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000157015
Predicted Effect probably benign
Transcript: ENSMUST00000156856
SMART Domains Protein: ENSMUSP00000116835
Gene: ENSMUSG00000013997

DomainStartEndE-ValueType
Pfam:CN_hydrolase 11 131 5.7e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display reduced body size, organ size and organ weight without reductions in cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Dedd
AlleleSourceChrCoordTypePredicted EffectPPH Score
Ceased UTSW 1 171,166,409 (GRCm39) missense probably damaging 0.96
Mort UTSW 1 171,166,062 (GRCm39) missense probably benign 0.00
R0512:Dedd UTSW 1 171,168,498 (GRCm39) missense probably damaging 1.00
R1225:Dedd UTSW 1 171,167,863 (GRCm39) splice site probably null
R3815:Dedd UTSW 1 171,166,469 (GRCm39) missense probably benign 0.11
R5386:Dedd UTSW 1 171,165,951 (GRCm39) missense probably damaging 1.00
R6376:Dedd UTSW 1 171,167,790 (GRCm39) missense probably benign 0.00
R7475:Dedd UTSW 1 171,167,881 (GRCm39) missense probably benign 0.37
R7633:Dedd UTSW 1 171,166,478 (GRCm39) missense probably benign
R7806:Dedd UTSW 1 171,166,062 (GRCm39) missense probably benign 0.00
R9074:Dedd UTSW 1 171,167,888 (GRCm39) unclassified probably benign
R9104:Dedd UTSW 1 171,168,572 (GRCm39) missense probably damaging 1.00
R9127:Dedd UTSW 1 171,166,409 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02