Incidental Mutation 'R1744:Ddx56'
ID 200599
Institutional Source Beutler Lab
Gene Symbol Ddx56
Ensembl Gene ENSMUSG00000004393
Gene Name DEAD box helicase 56
Synonyms D11Ertd619e, NOH61, DEAD (Asp-Glu-Ala-Asp) box polypeptide 56, 2600001H07Rik
MMRRC Submission 039776-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R1744 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 6208919-6217772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6216396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 189 (R189W)
Ref Sequence ENSEMBL: ENSMUSP00000004507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004507] [ENSMUST00000004508] [ENSMUST00000151446]
AlphaFold Q9D0R4
Predicted Effect probably damaging
Transcript: ENSMUST00000004507
AA Change: R189W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393
AA Change: R189W

DomainStartEndE-ValueType
DEXDc 26 234 4.13e-46 SMART
low complexity region 246 256 N/A INTRINSIC
HELICc 272 380 2.42e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000004508
SMART Domains Protein: ENSMUSP00000004508
Gene: ENSMUSG00000004394

DomainStartEndE-ValueType
EMP24_GP25L 29 222 3.21e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139073
Predicted Effect probably damaging
Transcript: ENSMUST00000151446
AA Change: R171W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122368
Gene: ENSMUSG00000004393
AA Change: R171W

DomainStartEndE-ValueType
DEXDc 26 216 3.65e-38 SMART
low complexity region 228 236 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155874
Meta Mutation Damage Score 0.2003 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A G 5: 81,942,267 (GRCm39) E1247G probably damaging Het
Bcl2l15 T A 3: 103,745,856 (GRCm39) L165Q probably damaging Het
Cd163 C A 6: 124,283,987 (GRCm39) A53E possibly damaging Het
Cemip2 C A 19: 21,809,501 (GRCm39) Y960* probably null Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Clca3a1 G T 3: 144,452,596 (GRCm39) A629D probably damaging Het
Csde1 T A 3: 102,957,631 (GRCm39) S463R probably benign Het
Cth C G 3: 157,611,905 (GRCm39) R304P probably damaging Het
D7Ertd443e A G 7: 133,951,142 (GRCm39) V177A probably benign Het
Dennd2a A T 6: 39,457,185 (GRCm39) F752L probably benign Het
Gabrp A T 11: 33,522,462 (GRCm39) V28E probably benign Het
Gpam T C 19: 55,063,023 (GRCm39) E763G probably damaging Het
Hars1 G A 18: 36,903,885 (GRCm39) R266C probably benign Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Kmt2d T C 15: 98,762,928 (GRCm39) K281E probably damaging Het
Lbx1 T C 19: 45,222,652 (GRCm39) K124E probably damaging Het
Lcp2 T C 11: 34,019,911 (GRCm39) probably null Het
Mab21l2 T C 3: 86,454,211 (GRCm39) E263G possibly damaging Het
Macf1 A T 4: 123,369,646 (GRCm39) I140K probably damaging Het
Mcemp1 G A 8: 3,716,054 (GRCm39) A20T probably damaging Het
Met T C 6: 17,540,645 (GRCm39) V137A possibly damaging Het
Mgat5 T C 1: 127,407,206 (GRCm39) F624S probably damaging Het
Nutm2 T C 13: 50,623,390 (GRCm39) I29T probably benign Het
Ociad1 T C 5: 73,458,062 (GRCm39) probably null Het
Ogfod2 G A 5: 124,252,219 (GRCm39) probably null Het
Or6c69 A C 10: 129,747,262 (GRCm39) V295G probably damaging Het
Or8g4 A C 9: 39,661,711 (GRCm39) T10P probably benign Het
Otoa G A 7: 120,726,999 (GRCm39) probably benign Het
Otud3 A C 4: 138,623,059 (GRCm39) L394R probably damaging Het
Pde5a T C 3: 122,541,546 (GRCm39) V12A probably damaging Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prr27 A G 5: 87,990,906 (GRCm39) I173V possibly damaging Het
Psg29 T C 7: 16,944,278 (GRCm39) C263R probably damaging Het
Ptprm T C 17: 66,996,361 (GRCm39) Y1242C probably damaging Het
Retsat C T 6: 72,583,558 (GRCm39) R84* probably null Het
Rif1 G A 2: 52,002,404 (GRCm39) V1953I possibly damaging Het
Ros1 A T 10: 51,999,475 (GRCm39) N1137K probably damaging Het
Scn1a T C 2: 66,152,620 (GRCm39) H787R probably benign Het
Sec16a T C 2: 26,329,198 (GRCm39) E939G probably damaging Het
Sh2d4a G A 8: 68,783,807 (GRCm39) G247D possibly damaging Het
Siglec1 A G 2: 130,923,219 (GRCm39) S509P probably damaging Het
Slc25a30 A G 14: 76,000,770 (GRCm39) I278T probably damaging Het
Slc6a20a C T 9: 123,492,058 (GRCm39) V104I probably benign Het
Sp110 G C 1: 85,522,093 (GRCm39) T70S probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stxbp1 A G 2: 32,696,731 (GRCm39) probably null Het
Tmem132b T C 5: 125,855,908 (GRCm39) probably null Het
Tnfsf13b G A 8: 10,081,661 (GRCm39) probably null Het
Trappc6a A G 7: 19,248,154 (GRCm39) E38G probably damaging Het
Trps1 T C 15: 50,524,609 (GRCm39) D857G probably damaging Het
Tspear T A 10: 77,700,718 (GRCm39) probably null Het
Vmn1r23 A T 6: 57,902,910 (GRCm39) N289K possibly damaging Het
Zcchc8 G A 5: 123,838,436 (GRCm39) Q701* probably null Het
Zfp618 A T 4: 63,004,871 (GRCm39) probably benign Het
Other mutations in Ddx56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Ddx56 APN 11 6,214,671 (GRCm39) splice site probably null
IGL01764:Ddx56 APN 11 6,215,692 (GRCm39) missense probably null 0.05
IGL02858:Ddx56 APN 11 6,217,667 (GRCm39) missense probably damaging 0.99
IGL03075:Ddx56 APN 11 6,211,632 (GRCm39) missense probably benign 0.00
R0972:Ddx56 UTSW 11 6,217,718 (GRCm39) start codon destroyed probably null 0.99
R1652:Ddx56 UTSW 11 6,217,679 (GRCm39) missense probably damaging 1.00
R1793:Ddx56 UTSW 11 6,216,934 (GRCm39) missense probably damaging 0.99
R1869:Ddx56 UTSW 11 6,213,993 (GRCm39) missense possibly damaging 0.88
R1917:Ddx56 UTSW 11 6,213,937 (GRCm39) critical splice donor site probably null
R2415:Ddx56 UTSW 11 6,211,727 (GRCm39) unclassified probably benign
R3839:Ddx56 UTSW 11 6,217,712 (GRCm39) missense probably benign 0.23
R4445:Ddx56 UTSW 11 6,215,770 (GRCm39) splice site probably null
R5041:Ddx56 UTSW 11 6,214,178 (GRCm39) missense probably damaging 1.00
R6925:Ddx56 UTSW 11 6,213,980 (GRCm39) missense probably damaging 1.00
R7412:Ddx56 UTSW 11 6,211,720 (GRCm39) missense probably damaging 0.99
R8401:Ddx56 UTSW 11 6,214,199 (GRCm39) missense probably damaging 1.00
R9088:Ddx56 UTSW 11 6,209,612 (GRCm39) missense probably benign 0.00
R9382:Ddx56 UTSW 11 6,215,516 (GRCm39) missense probably damaging 1.00
Z1177:Ddx56 UTSW 11 6,217,445 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGAAACGTGACCCCAAGTGAC -3'
(R):5'- CTTGCAGCAGAACACCTTGAAACTC -3'

Sequencing Primer
(F):5'- ATGACTTCAAGTGACTTCCTTTCAG -3'
(R):5'- CCTTGAAACTCCGGGACTC -3'
Posted On 2014-05-23