Incidental Mutation 'IGL02858:Ddx56'
ID 362052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx56
Ensembl Gene ENSMUSG00000004393
Gene Name DEAD box helicase 56
Synonyms D11Ertd619e, NOH61, DEAD (Asp-Glu-Ala-Asp) box polypeptide 56, 2600001H07Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL02858
Quality Score
Status
Chromosome 11
Chromosomal Location 6208919-6217772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6217667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 18 (L18P)
Ref Sequence ENSEMBL: ENSMUSP00000122368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004507] [ENSMUST00000004508] [ENSMUST00000151446]
AlphaFold Q9D0R4
Predicted Effect probably damaging
Transcript: ENSMUST00000004507
AA Change: L18P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393
AA Change: L18P

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: ENSMUST00000130621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139073
Predicted Effect probably damaging
Transcript: ENSMUST00000151446
AA Change: L18P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122368
Gene: ENSMUSG00000004393
AA Change: L18P

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,596,599 (GRCm39) V126A probably damaging Het
Akap9 T C 5: 4,119,130 (GRCm39) Y3546H possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap45 C A 10: 79,853,768 (GRCm39) T94N probably benign Het
Arid1b T C 17: 5,392,166 (GRCm39) S1899P possibly damaging Het
Atad5 T A 11: 79,980,601 (GRCm39) V2E probably damaging Het
Calr A T 8: 85,571,528 (GRCm39) V155E probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cetn1 T C 18: 9,619,422 (GRCm39) probably benign Het
Chl1 A T 6: 103,618,949 (GRCm39) L6F probably damaging Het
Chrnb1 C T 11: 69,675,935 (GRCm39) V436I possibly damaging Het
Col4a4 T C 1: 82,506,204 (GRCm39) E292G unknown Het
Dhx36 A C 3: 62,384,797 (GRCm39) probably benign Het
Dnah5 A T 15: 28,453,358 (GRCm39) R4376S possibly damaging Het
Dnah6 T A 6: 73,185,582 (GRCm39) D113V probably benign Het
Dnah7a A G 1: 53,512,118 (GRCm39) probably benign Het
Dock7 T A 4: 98,833,442 (GRCm39) K1920* probably null Het
Dysf A G 6: 84,076,471 (GRCm39) D628G probably benign Het
Exoc3l2 A G 7: 19,229,109 (GRCm39) I176V probably benign Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Fzd4 C T 7: 89,057,162 (GRCm39) T403M probably damaging Het
Gpr171 A T 3: 59,005,288 (GRCm39) N162K probably benign Het
Impdh1 T A 6: 29,206,924 (GRCm39) K132* probably null Het
Itgb2l A T 16: 96,223,850 (GRCm39) W730R possibly damaging Het
Jmjd8 T C 17: 26,049,134 (GRCm39) F230S probably damaging Het
Krt72 G A 15: 101,690,556 (GRCm39) T232M probably damaging Het
Lpin3 T C 2: 160,740,540 (GRCm39) probably benign Het
Nup214 A C 2: 31,900,384 (GRCm39) probably benign Het
Or11g7 A T 14: 50,690,507 (GRCm39) probably benign Het
Or7d10 A G 9: 19,831,747 (GRCm39) M81V probably damaging Het
Or8c20 A G 9: 38,260,469 (GRCm39) Q24R probably benign Het
Or8g26 A G 9: 39,095,822 (GRCm39) Y113C probably damaging Het
Pdgfra T A 5: 75,355,635 (GRCm39) S1048R probably damaging Het
Sall3 G T 18: 81,012,728 (GRCm39) A1236E probably damaging Het
Sipa1 T C 19: 5,705,736 (GRCm39) T411A probably damaging Het
Thsd7a T G 6: 12,500,994 (GRCm39) D471A probably benign Het
Tm2d1 T A 4: 98,263,192 (GRCm39) E100D probably damaging Het
Tmcc1 A G 6: 116,110,849 (GRCm39) V148A probably damaging Het
Tubgcp6 A T 15: 88,986,518 (GRCm39) Y19* probably null Het
Ubr3 A G 2: 69,783,203 (GRCm39) Y713C probably damaging Het
Uevld A G 7: 46,605,377 (GRCm39) V39A probably benign Het
Vmn2r28 A T 7: 5,484,003 (GRCm39) H732Q probably damaging Het
Zfp629 A T 7: 127,209,484 (GRCm39) F775Y probably damaging 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
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
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
Posted On 2015-12-18