Incidental Mutation 'IGL03075:Ddx56'
ID417654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx56
Ensembl Gene ENSMUSG00000004393
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 56
SynonymsNOH61, D11Ertd619e, 2600001H07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL03075
Quality Score
Status
Chromosome11
Chromosomal Location6258919-6267772 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6261632 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 491 (H491Q)
Ref Sequence ENSEMBL: ENSMUSP00000004507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004507] [ENSMUST00000151446]
Predicted Effect probably benign
Transcript: ENSMUST00000004507
AA Change: H491Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393
AA Change: H491Q

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 noncoding transcript
Transcript: ENSMUST00000139073
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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 G A 13: 4,272,255 R263C probably damaging Het
Axdnd1 A T 1: 156,395,442 S217T probably damaging Het
Crtc3 G A 7: 80,604,403 probably benign Het
Ctnna2 A T 6: 76,954,730 M642K probably benign Het
Dvl1 A G 4: 155,854,583 E208G probably damaging Het
Fam135a A G 1: 24,030,906 probably benign Het
Gabpa T A 16: 84,852,607 V234D possibly damaging Het
Gjb4 A G 4: 127,351,593 V185A possibly damaging Het
Hlcs C T 16: 94,138,847 A149T probably damaging Het
Il1f10 T A 2: 24,293,176 I44N possibly damaging Het
Itih4 A G 14: 30,892,283 I397V probably benign Het
Kat6b C T 14: 21,661,570 R820* probably null Het
Mmp17 T C 5: 129,595,074 L137P probably damaging Het
Myh2 A G 11: 67,180,836 N493S probably benign Het
Myo9b A T 8: 71,354,527 Q1589L probably damaging Het
Olfr202 T A 16: 59,283,928 T190S possibly damaging Het
Olfr389 A T 11: 73,776,472 L285Q probably damaging Het
Osbpl8 A G 10: 111,291,556 I834V probably benign Het
P2ry12 A T 3: 59,218,158 V32D probably damaging Het
Polg A G 7: 79,451,912 V1052A probably damaging Het
Prss38 A C 11: 59,373,055 V277G probably damaging Het
Rell2 G T 18: 37,957,681 R137L probably damaging Het
Scara3 C T 14: 65,931,154 R338H probably damaging Het
Skint4 T C 4: 112,087,042 L17P probably damaging Het
Slco1a6 C T 6: 142,103,149 probably benign Het
Smyd2 T A 1: 189,888,832 I230F probably damaging Het
Sv2b G T 7: 75,136,320 H451N probably benign Het
Tbpl2 A T 2: 24,071,985 probably benign Het
Tmprss9 A G 10: 80,884,029 D144G possibly damaging Het
Trove2 A C 1: 143,770,771 S79A probably benign Het
Vwa8 T C 14: 78,933,756 Y247H probably damaging Het
Zc3h15 T C 2: 83,662,191 Y337H possibly damaging Het
Other mutations in Ddx56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Ddx56 APN 11 6264671 splice site probably null
IGL01764:Ddx56 APN 11 6265692 missense probably null 0.05
IGL02858:Ddx56 APN 11 6267667 missense probably damaging 0.99
R0972:Ddx56 UTSW 11 6267718 start codon destroyed probably null 0.99
R1652:Ddx56 UTSW 11 6267679 missense probably damaging 1.00
R1744:Ddx56 UTSW 11 6266396 missense probably damaging 1.00
R1793:Ddx56 UTSW 11 6266934 missense probably damaging 0.99
R1869:Ddx56 UTSW 11 6263993 missense possibly damaging 0.88
R1917:Ddx56 UTSW 11 6263937 critical splice donor site probably null
R2415:Ddx56 UTSW 11 6261727 unclassified probably benign
R3839:Ddx56 UTSW 11 6267712 missense probably benign 0.23
R4445:Ddx56 UTSW 11 6265770 splice site probably null
R5041:Ddx56 UTSW 11 6264178 missense probably damaging 1.00
R6925:Ddx56 UTSW 11 6263980 missense probably damaging 1.00
R7412:Ddx56 UTSW 11 6261720 missense probably damaging 0.99
Posted On2016-08-02