Incidental Mutation 'R9382:Ddx56'
ID 710110
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R9382 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 6208919-6217772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6215516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 296 (S296P)
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: S296P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393
AA Change: S296P

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 probably benign
Transcript: ENSMUST00000151446
SMART Domains Protein: ENSMUSP00000122368
Gene: ENSMUSG00000004393

DomainStartEndE-ValueType
DEXDc 26 216 3.65e-38 SMART
low complexity region 228 236 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,870,711 (GRCm39) S147L probably benign Het
Abraxas1 A G 5: 100,957,649 (GRCm39) V190A probably benign Het
Aoc1l2 A T 6: 48,907,298 (GRCm39) K99N probably benign Het
Aox1 T A 1: 58,104,501 (GRCm39) H559Q possibly damaging Het
Arhgap31 C T 16: 38,422,988 (GRCm39) G1026D probably benign Het
C1ra T C 6: 124,490,819 (GRCm39) F71L probably benign Het
C530025M09Rik T C 2: 149,672,640 (GRCm39) H165R unknown Het
Celf2 A T 2: 6,726,404 (GRCm39) M43K probably damaging Het
Celsr3 T C 9: 108,706,961 (GRCm39) V1148A possibly damaging Het
Cmya5 T G 13: 93,229,884 (GRCm39) K1735Q probably benign Het
Cntln A C 4: 84,968,318 (GRCm39) M846L probably benign Het
Cntn5 T C 9: 9,673,817 (GRCm39) T762A probably benign Het
Col11a1 T A 3: 113,899,046 (GRCm39) L525Q unknown Het
Col12a1 T C 9: 79,589,364 (GRCm39) T1064A probably benign Het
Cyc1 T C 15: 76,229,273 (GRCm39) V211A possibly damaging Het
Deptor A T 15: 54,975,798 (GRCm39) probably benign Het
Ezh1 C T 11: 101,094,265 (GRCm39) R409H possibly damaging Het
Fam228b T A 12: 4,798,147 (GRCm39) E190V probably damaging Het
Fkbp15 A T 4: 62,237,210 (GRCm39) L635H probably damaging Het
Frem1 G A 4: 82,901,622 (GRCm39) L969F possibly damaging Het
Gabrg2 T C 11: 41,858,433 (GRCm39) R232G probably benign Het
Gpr26 G A 7: 131,568,963 (GRCm39) D103N probably damaging Het
Grid2ip T G 5: 143,361,103 (GRCm39) probably null Het
Ints7 T C 1: 191,351,793 (GRCm39) V834A probably damaging Het
Kcnh7 T A 2: 62,667,612 (GRCm39) H309L probably benign Het
Mael T C 1: 166,053,282 (GRCm39) E241G probably damaging Het
Neb T A 2: 52,122,277 (GRCm39) E584V Het
Nexn C T 3: 151,959,401 (GRCm39) V23M probably damaging Het
Npas1 T C 7: 16,190,231 (GRCm39) probably null Het
Or51f1 T C 7: 102,506,014 (GRCm39) I158M probably benign Het
Pcdh17 T G 14: 84,685,522 (GRCm39) V663G probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Poln T A 5: 34,164,842 (GRCm39) K844N probably damaging Het
Prkar1b C T 5: 139,036,442 (GRCm39) D227N probably damaging Het
Proc T A 18: 32,256,336 (GRCm39) I444F probably damaging Het
Ptprn G T 1: 75,229,135 (GRCm39) H791N probably benign Het
Ror1 T C 4: 100,191,709 (GRCm39) S160P probably benign Het
Satb2 T A 1: 56,870,797 (GRCm39) probably null Het
Slc43a3 C T 2: 84,780,771 (GRCm39) A332V probably benign Het
Sp100 G A 1: 85,627,336 (GRCm39) V410M probably damaging Het
Srgap2 T C 1: 131,217,346 (GRCm39) T989A probably benign Het
Ssc5d T C 7: 4,930,283 (GRCm39) probably null Het
Tll2 A G 19: 41,116,997 (GRCm39) Y273H probably benign Het
Tub T C 7: 108,626,211 (GRCm39) V295A possibly damaging Het
Unc13b T A 4: 43,172,512 (GRCm39) D1113E unknown Het
Usp9y C A Y: 1,364,776 (GRCm39) M1012I probably benign Het
Vmn1r238 A G 18: 3,122,676 (GRCm39) V246A probably damaging Het
Vmn2r88 T G 14: 51,656,197 (GRCm39) V802G Het
Wnt7b T C 15: 85,443,175 (GRCm39) Q76R probably damaging Het
Zan T C 5: 137,389,917 (GRCm39) R4852G unknown Het
Zfp618 A T 4: 63,051,258 (GRCm39) T680S probably damaging Het
Zfp784 T A 7: 5,041,338 (GRCm39) D25V unknown 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
R1744:Ddx56 UTSW 11 6,216,396 (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
Z1177:Ddx56 UTSW 11 6,217,445 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTCCTAGCAAGTGGTTACAG -3'
(R):5'- ACAGAAGAGGACAAGTTCTTGC -3'

Sequencing Primer
(F):5'- CTTACTTAGCAAGAACAAGGCTCTGG -3'
(R):5'- AAGAGGACAAGTTCTTGCTGCTG -3'
Posted On 2022-04-18