Incidental Mutation 'IGL01517:Ddx50'
ID 90426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx50
Ensembl Gene ENSMUSG00000020076
Gene Name DExD box helicase 50
Synonyms RH-II/Gubeta, GU2, 4933429B04Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 50, 8430408E17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # IGL01517
Quality Score
Status
Chromosome 10
Chromosomal Location 62451674-62486997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62482911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 53 (T53A)
Ref Sequence ENSEMBL: ENSMUSP00000020270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020270]
AlphaFold Q99MJ9
Predicted Effect probably benign
Transcript: ENSMUST00000020270
AA Change: T53A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: T53A

DomainStartEndE-ValueType
low complexity region 29 49 N/A INTRINSIC
low complexity region 58 65 N/A INTRINSIC
Blast:DEXDc 66 104 3e-8 BLAST
low complexity region 105 122 N/A INTRINSIC
DEXDc 153 354 1.97e-52 SMART
HELICc 398 480 1.8e-28 SMART
low complexity region 558 564 N/A INTRINSIC
Pfam:GUCT 568 662 3.7e-31 PFAM
low complexity region 674 728 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220370
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,526,700 (GRCm39) probably benign Het
Arpc1b A G 5: 145,064,679 (GRCm39) probably benign Het
Ccdc54 G A 16: 50,410,280 (GRCm39) L329F possibly damaging Het
Cdc42bpg G A 19: 6,368,467 (GRCm39) R1055H probably damaging Het
Cylc1 A G X: 110,162,799 (GRCm39) T29A possibly damaging Het
Dmap1 G A 4: 117,533,206 (GRCm39) R283C probably damaging Het
Extl3 A T 14: 65,314,156 (GRCm39) L342H probably damaging Het
Gjb3 A C 4: 127,219,914 (GRCm39) I206S probably damaging Het
Gphn T A 12: 78,423,148 (GRCm39) I53K probably damaging Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Inpp5b T A 4: 124,676,229 (GRCm39) C362S probably benign Het
Iqgap3 C A 3: 88,016,703 (GRCm39) Q1062K probably benign Het
Kdm2a A G 19: 4,412,089 (GRCm39) probably benign Het
Ltbp3 A G 19: 5,807,760 (GRCm39) D1167G possibly damaging Het
Mpo A G 11: 87,686,647 (GRCm39) N65D possibly damaging Het
Mrpl2 A G 17: 46,960,909 (GRCm39) R268G probably damaging Het
Nfkbia C T 12: 55,537,430 (GRCm39) A220T probably damaging Het
Nlrc3 T A 16: 3,765,351 (GRCm39) I1091F probably damaging Het
Notch2 T A 3: 98,045,971 (GRCm39) S1674R probably benign Het
Or10h28 T A 17: 33,488,629 (GRCm39) N310K probably benign Het
Or14a257 T C 7: 86,138,765 (GRCm39) probably benign Het
Pde8b A G 13: 95,237,395 (GRCm39) probably null Het
Pla2r1 A G 2: 60,334,597 (GRCm39) Y392H probably damaging Het
Plekhm1 A T 11: 103,285,609 (GRCm39) N275K possibly damaging Het
Prdm16 T C 4: 154,412,882 (GRCm39) H1041R probably damaging Het
Rapsn C A 2: 90,866,963 (GRCm39) N88K probably damaging Het
Rasef T A 4: 73,688,059 (GRCm39) Q31H probably benign Het
Rpl28-ps4 T C 6: 117,190,813 (GRCm39) noncoding transcript Het
Trpc7 T C 13: 57,008,878 (GRCm39) Y263C probably damaging Het
Ttn T C 2: 76,577,940 (GRCm39) T24318A probably damaging Het
Vmn1r35 T C 6: 66,656,434 (GRCm39) T79A probably benign Het
Vmn2r100 T A 17: 19,742,225 (GRCm39) S200T probably benign Het
Wnt9b A G 11: 103,621,907 (GRCm39) V250A probably benign Het
Zyg11a T A 4: 108,058,391 (GRCm39) K383M probably null Het
Other mutations in Ddx50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01955:Ddx50 APN 10 62,482,962 (GRCm39) missense probably benign
IGL02677:Ddx50 APN 10 62,452,072 (GRCm39) missense unknown
IGL03169:Ddx50 APN 10 62,457,166 (GRCm39) critical splice donor site probably null
IGL03372:Ddx50 APN 10 62,479,109 (GRCm39) missense probably benign 0.11
K7371:Ddx50 UTSW 10 62,457,289 (GRCm39) start codon destroyed probably null
R0123:Ddx50 UTSW 10 62,457,156 (GRCm39) splice site probably benign
R0134:Ddx50 UTSW 10 62,457,156 (GRCm39) splice site probably benign
R0318:Ddx50 UTSW 10 62,478,616 (GRCm39) missense probably damaging 1.00
R0731:Ddx50 UTSW 10 62,452,028 (GRCm39) missense unknown
R1244:Ddx50 UTSW 10 62,478,703 (GRCm39) missense probably damaging 1.00
R1429:Ddx50 UTSW 10 62,482,847 (GRCm39) missense possibly damaging 0.45
R2005:Ddx50 UTSW 10 62,476,243 (GRCm39) missense probably benign 0.10
R2924:Ddx50 UTSW 10 62,463,373 (GRCm39) missense probably damaging 1.00
R3803:Ddx50 UTSW 10 62,475,723 (GRCm39) missense probably damaging 1.00
R3861:Ddx50 UTSW 10 62,478,725 (GRCm39) missense possibly damaging 0.91
R4169:Ddx50 UTSW 10 62,476,549 (GRCm39) nonsense probably null
R4917:Ddx50 UTSW 10 62,463,450 (GRCm39) nonsense probably null
R4918:Ddx50 UTSW 10 62,463,450 (GRCm39) nonsense probably null
R4951:Ddx50 UTSW 10 62,469,899 (GRCm39) missense probably damaging 0.99
R4962:Ddx50 UTSW 10 62,478,632 (GRCm39) missense probably damaging 1.00
R5102:Ddx50 UTSW 10 62,476,640 (GRCm39) missense probably damaging 1.00
R5403:Ddx50 UTSW 10 62,482,809 (GRCm39) missense probably benign
R5648:Ddx50 UTSW 10 62,452,049 (GRCm39) missense unknown
R5899:Ddx50 UTSW 10 62,476,596 (GRCm39) nonsense probably null
R6127:Ddx50 UTSW 10 62,457,342 (GRCm39) splice site probably null
R6244:Ddx50 UTSW 10 62,457,345 (GRCm39) splice site probably null
R8098:Ddx50 UTSW 10 62,460,922 (GRCm39) critical splice donor site probably null
R8163:Ddx50 UTSW 10 62,475,678 (GRCm39) missense possibly damaging 0.93
R8257:Ddx50 UTSW 10 62,452,299 (GRCm39) splice site probably benign
R8272:Ddx50 UTSW 10 62,457,256 (GRCm39) missense probably benign 0.05
R8356:Ddx50 UTSW 10 62,457,287 (GRCm39) missense probably benign 0.04
R8537:Ddx50 UTSW 10 62,478,628 (GRCm39) missense probably damaging 1.00
R8540:Ddx50 UTSW 10 62,476,569 (GRCm39) missense possibly damaging 0.94
R8759:Ddx50 UTSW 10 62,452,021 (GRCm39) missense unknown
R8995:Ddx50 UTSW 10 62,469,862 (GRCm39) missense probably damaging 1.00
R9001:Ddx50 UTSW 10 62,475,728 (GRCm39) missense probably benign 0.27
R9691:Ddx50 UTSW 10 62,476,524 (GRCm39) missense probably benign 0.03
R9799:Ddx50 UTSW 10 62,469,812 (GRCm39) missense probably damaging 1.00
X0026:Ddx50 UTSW 10 62,460,970 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09