Incidental Mutation 'IGL01061:Ddx56'
ID52188
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: 0.968) question?
Stock #IGL01061
Quality Score
Status
Chromosome11
Chromosomal Location6258919-6267772 bp(-) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) C to T at 6264671 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000004507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004507] [ENSMUST00000004507] [ENSMUST00000004507] [ENSMUST00000151446]
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 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 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 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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,907,302 M299I probably damaging Het
Ankfy1 T A 11: 72,728,860 C186* probably null Het
Ankmy1 A T 1: 92,870,974 probably benign Het
B3gnt2 T A 11: 22,836,042 E382V probably damaging Het
Carmil3 T G 14: 55,498,630 S610A possibly damaging Het
Cfap70 T C 14: 20,447,625 probably benign Het
Chek1 G A 9: 36,714,519 R277C possibly damaging Het
Cpb1 T A 3: 20,266,516 I92L probably benign Het
Dicer1 A T 12: 104,706,327 M887K probably null Het
Dnajc18 A G 18: 35,680,942 probably benign Het
Dock2 A G 11: 34,705,826 V401A probably damaging Het
Dock4 A C 12: 40,702,969 N434T probably benign Het
Ehbp1l1 A T 19: 5,717,888 M1129K probably benign Het
Fam83a A T 15: 57,986,375 Y105F possibly damaging Het
Fnbp1 C A 2: 31,083,042 D70Y probably damaging Het
Gtf3c2 A G 5: 31,168,354 F414L possibly damaging Het
Kdelc2 A G 9: 53,388,587 probably benign Het
Kndc1 A T 7: 139,922,694 E965D probably benign Het
Lrrc66 T C 5: 73,615,499 K209E probably benign Het
Mcm3 A T 1: 20,814,496 I261N possibly damaging Het
Mier3 T A 13: 111,714,436 probably benign Het
Muc6 T C 7: 141,648,454 E669G probably damaging Het
Myh1 T A 11: 67,217,862 M1368K probably benign Het
Nav1 A G 1: 135,450,630 I1653T probably damaging Het
Nuak1 C A 10: 84,375,134 L363F probably damaging Het
Olfr113 A G 17: 37,574,904 I173T possibly damaging Het
Olfr1502 T C 19: 13,862,705 V304A possibly damaging Het
Olfr690 A G 7: 105,329,382 I270T possibly damaging Het
Pkd1l3 A G 8: 109,638,706 H1153R probably damaging Het
Ppp6r2 A T 15: 89,286,015 probably benign Het
Prelid3b T C 2: 174,465,821 probably null Het
Prrt3 T C 6: 113,497,770 K164E possibly damaging Het
Rab22a T A 2: 173,688,210 D60E probably damaging Het
Rab32 A G 10: 10,557,874 L72P probably damaging Het
Samm50 A G 15: 84,202,254 T225A probably benign Het
Snx27 T A 3: 94,528,980 probably benign Het
Taf7 G A 18: 37,643,433 T27M probably damaging Het
Tgm5 A T 2: 121,071,496 C231S probably benign Het
Tll1 A G 8: 64,038,454 probably null Het
Tmem150a A G 6: 72,357,118 D61G probably damaging Het
Ttll8 G A 15: 88,917,250 R412C possibly damaging Het
Ubr3 T A 2: 69,983,225 D1293E probably benign Het
Utp20 T C 10: 88,770,704 N1669D probably benign Het
Vmn2r28 A G 7: 5,488,184 W355R probably damaging Het
Wdr60 C A 12: 116,229,704 A543S probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfhx2 T A 14: 55,073,882 N452Y possibly damaging Het
Zfp180 T G 7: 24,104,745 D196E possibly damaging Het
Other mutations in Ddx56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01764:Ddx56 APN 11 6265692 missense probably null 0.05
IGL02858:Ddx56 APN 11 6267667 missense probably damaging 0.99
IGL03075:Ddx56 APN 11 6261632 missense probably benign 0.00
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
R8401:Ddx56 UTSW 11 6264199 missense probably damaging 1.00
Z1177:Ddx56 UTSW 11 6267445 missense probably benign 0.00
Posted On2013-06-21