Incidental Mutation 'R2924:Ddx50'
ID 255667
Institutional Source Beutler Lab
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
MMRRC Submission 040509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R2924 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62451674-62486997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62463373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 440 (V440E)
Ref Sequence ENSEMBL: ENSMUSP00000020270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020270]
AlphaFold Q99MJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000020270
AA Change: V440E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: V440E

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: ENSMUST00000217970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218372
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9 A G 3: 97,117,069 (GRCm39) S542P probably benign Het
Cass4 A G 2: 172,268,592 (GRCm39) R225G possibly damaging Het
Dmrtc2 G A 7: 24,571,941 (GRCm39) C12Y probably damaging Het
Dock6 A T 9: 21,720,926 (GRCm39) I1693N probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Gli2 C T 1: 118,764,089 (GRCm39) R1354H probably benign Het
Gm5478 A T 15: 101,552,229 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Il2rb T C 15: 78,376,049 (GRCm39) M1V probably null Het
Ints6l A G X: 55,550,196 (GRCm39) E483G probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mrgpra1 G A 7: 46,984,618 (GRCm39) probably null Het
Mtbp G A 15: 55,483,210 (GRCm39) R429Q probably benign Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or1e34 A G 11: 73,778,337 (GRCm39) I287T probably damaging Het
Oxr1 T C 15: 41,689,353 (GRCm39) Y526H probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Prex2 A G 1: 11,168,711 (GRCm39) T236A probably damaging Het
Rbbp5 G C 1: 132,420,401 (GRCm39) probably null Het
Slc24a2 A G 4: 86,929,961 (GRCm39) S512P probably benign Het
Srd5a1 A G 13: 69,734,834 (GRCm39) S191P probably damaging Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tmem132e T C 11: 82,335,149 (GRCm39) S652P probably damaging Het
Uba6 A T 5: 86,307,130 (GRCm39) V102D probably damaging Het
Unc13a A G 8: 72,097,596 (GRCm39) V1158A possibly damaging Het
Upk3a A G 15: 84,902,350 (GRCm39) Y59C probably benign Het
Zc3hav1 T C 6: 38,331,045 (GRCm39) Y38C probably damaging Het
Zfp119a C A 17: 56,175,343 (GRCm39) D51Y possibly damaging Het
Other mutations in Ddx50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Ddx50 APN 10 62,482,911 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-12-29