Incidental Mutation 'R4445:Ddx56'
ID 329851
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 041151-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R4445 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 6208919-6217772 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 6215770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004507] [ENSMUST00000004508] [ENSMUST00000151446] [ENSMUST00000151446]
AlphaFold Q9D0R4
Predicted Effect probably null
Transcript: ENSMUST00000004507
SMART Domains Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393

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 null
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
Predicted Effect probably null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155874
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,285,507 (GRCm39) S1160P probably damaging Het
Adgrl1 T C 8: 84,661,489 (GRCm39) L962P probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Calcoco1 A G 15: 102,624,175 (GRCm39) probably null Het
Cd59a A G 2: 103,941,163 (GRCm39) Q47R probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cfap45 G A 1: 172,362,794 (GRCm39) V262M probably benign Het
Chd8 A T 14: 52,441,984 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,785 (GRCm39) T737I probably benign Het
Cplane1 A G 15: 8,281,672 (GRCm39) D2837G unknown Het
Crot T C 5: 9,023,643 (GRCm39) H415R probably damaging Het
Cyp17a1 A G 19: 46,656,462 (GRCm39) F411L probably damaging Het
Cyp4a12a G A 4: 115,183,980 (GRCm39) probably null Het
Cysltr2 G A 14: 73,267,333 (GRCm39) H126Y possibly damaging Het
Dync2i1 G A 12: 116,171,335 (GRCm39) A967V probably damaging Het
Elmod1 T A 9: 53,841,413 (GRCm39) D93V probably damaging Het
Epb41l2 T C 10: 25,319,701 (GRCm39) L178P possibly damaging Het
Flacc1 A T 1: 58,706,080 (GRCm39) I263K possibly damaging Het
Galnt10 T A 11: 57,674,517 (GRCm39) V502D probably damaging Het
Gm11735 T C 11: 116,629,888 (GRCm39) noncoding transcript Het
H4c12 T C 13: 21,934,513 (GRCm39) T55A possibly damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Igsf9b A G 9: 27,245,548 (GRCm39) T1172A probably benign Het
Ip6k3 A G 17: 27,364,076 (GRCm39) I324T probably benign Het
Klkb1 C T 8: 45,730,092 (GRCm39) S263N probably benign Het
Lrit3 A T 3: 129,582,180 (GRCm39) C602* probably null Het
Lyst T C 13: 13,884,149 (GRCm39) S2986P probably benign Het
Mapkapk5 T C 5: 121,663,291 (GRCm39) T445A probably benign Het
Mms19 A T 19: 41,952,372 (GRCm39) M119K possibly damaging Het
Myo7a T C 7: 97,715,611 (GRCm39) D63G probably damaging Het
Nscme3l A T 19: 5,553,022 (GRCm39) V253D probably damaging Het
Nsun2 G A 13: 69,777,840 (GRCm39) probably null Het
Or13a24 C A 7: 140,154,302 (GRCm39) P79T probably damaging Het
Or1ak2 T G 2: 36,827,563 (GRCm39) L144R probably damaging Het
Or2ag1b T A 7: 106,288,353 (GRCm39) Y195F possibly damaging Het
Or51t4 T C 7: 102,598,005 (GRCm39) L101P possibly damaging Het
Pabpc2 T C 18: 39,907,253 (GRCm39) F173L probably damaging Het
Rngtt A G 4: 33,499,035 (GRCm39) I531V probably benign Het
Sacs A G 14: 61,442,135 (GRCm39) M1394V probably benign Het
Setd1b G T 5: 123,286,167 (GRCm39) E404D unknown Het
Slc25a54 G A 3: 109,005,984 (GRCm39) R164H probably benign Het
Slc2a13 A G 15: 91,234,223 (GRCm39) V371A possibly damaging Het
Spag9 C G 11: 93,988,079 (GRCm39) L798V possibly damaging Het
Tbce A T 13: 14,172,980 (GRCm39) S484T possibly damaging Het
Tcf12 C T 9: 71,776,345 (GRCm39) R399Q probably damaging Het
Ttn A G 2: 76,615,177 (GRCm39) V16847A probably benign Het
Ttn A G 2: 76,687,210 (GRCm39) probably benign Het
Vmn1r11 T G 6: 57,114,515 (GRCm39) L23V probably benign Het
Vmn2r59 C T 7: 41,691,874 (GRCm39) C541Y probably damaging Het
Vmn2r82 A C 10: 79,214,874 (GRCm39) T286P possibly damaging Het
Vps13c T G 9: 67,889,777 (GRCm39) probably null Het
Ypel1 A T 16: 16,921,464 (GRCm39) Y73* probably null Het
Zdhhc6 T C 19: 55,291,169 (GRCm39) I349V 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
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
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'- TAACCCCTCTCTAGAGTGTTGAC -3'
(R):5'- TGCTGTACACTGATGCTGTATG -3'

Sequencing Primer
(F):5'- CCCTCTCTAGAGTGTTGACAAAGAG -3'
(R):5'- GCTGTACACTGATGCTGTATGTATAG -3'
Posted On 2015-07-21