Incidental Mutation 'R8537:Ddx50'
ID 659293
Institutional Source Beutler Lab
Gene Symbol Ddx50
Ensembl Gene ENSMUSG00000020076
Gene Name DEAD (Asp-Glu-Ala-Asp) box polypeptide 50
Synonyms GU2, RH-II/Gubeta, 8430408E17Rik, 4933429B04Rik
MMRRC Submission 067891-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R8537 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62615895-62651218 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62642849 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 186 (F186S)
Ref Sequence ENSEMBL: ENSMUSP00000020270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020270]
AlphaFold Q99MJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000020270
AA Change: F186S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: F186S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,536,372 (GRCm38) D1790V probably damaging Het
Aopep A T 13: 63,190,550 (GRCm38) E579V probably damaging Het
Avl9 T A 6: 56,728,659 (GRCm38) Y175* probably null Het
Bmp2 A T 2: 133,561,282 (GRCm38) D251V probably damaging Het
Camsap2 T A 1: 136,277,205 (GRCm38) K1191N probably damaging Het
Ccdc102a A C 8: 94,906,056 (GRCm38) F431C probably benign Het
Ccdc186 T C 19: 56,810,245 (GRCm38) I270M probably damaging Het
Copb2 A G 9: 98,587,619 (GRCm38) Q851R probably null Het
Cyp11b2 C T 15: 74,856,167 (GRCm38) R22K probably benign Het
Dhx38 T C 8: 109,553,380 (GRCm38) Y926C probably damaging Het
Dmrt2 T C 19: 25,673,936 (GRCm38) M162T possibly damaging Het
Dnah10 G T 5: 124,816,100 (GRCm38) G3309V probably damaging Het
Dnajb2 T C 1: 75,239,598 (GRCm38) F107S probably damaging Het
Dock8 T A 19: 25,130,506 (GRCm38) S867T probably benign Het
Eif2ak1 C A 5: 143,899,069 (GRCm38) T526K probably damaging Het
Gnas T C 2: 174,298,601 (GRCm38) S188P possibly damaging Het
Gpam T C 19: 55,096,239 (GRCm38) D36G probably benign Het
Gucy2e C A 11: 69,236,353 (GRCm38) R98L probably benign Het
Hmcn2 C A 2: 31,391,076 (GRCm38) L1867I probably benign Het
Hnrnpu T C 1: 178,333,634 (GRCm38) probably benign Het
Icos A G 1: 60,993,942 (GRCm38) D100G probably damaging Het
Ifi203 A T 1: 173,928,906 (GRCm38) probably benign Het
Ift46 T A 9: 44,783,983 (GRCm38) L92Q probably damaging Het
Kcnip2 C T 19: 45,815,730 (GRCm38) probably null Het
Lgr5 T C 10: 115,452,402 (GRCm38) Y779C probably damaging Het
Ltk G T 2: 119,758,107 (GRCm38) P287Q probably benign Het
Mapk8ip3 A T 17: 24,901,678 (GRCm38) C852* probably null Het
Mmp27 A G 9: 7,579,775 (GRCm38) M443V probably benign Het
Muc6 T C 7: 141,647,917 (GRCm38) D769G probably benign Het
Myo7b T C 18: 31,977,089 (GRCm38) I1107V probably benign Het
Nebl T A 2: 17,350,709 (GRCm38) H211L probably benign Het
Oaz3 T A 3: 94,436,435 (GRCm38) K40N probably damaging Het
Or5as1 T A 2: 87,150,038 (GRCm38) T208S probably benign Het
Or7e169 T A 9: 19,846,552 (GRCm38) E22D probably damaging Het
Osbpl10 G T 9: 115,229,909 (GRCm38) A718S probably benign Het
Ppp3ca T A 3: 136,797,858 (GRCm38) I64K possibly damaging Het
Prlr T C 15: 10,314,180 (GRCm38) probably benign Het
Rab3ip A G 10: 116,910,154 (GRCm38) I424T probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,914 (GRCm38) probably benign Het
Sec62 G T 3: 30,818,812 (GRCm38) R348L unknown Het
Sema5b C T 16: 35,651,609 (GRCm38) A479V possibly damaging Het
Shank3 T C 15: 89,532,215 (GRCm38) I222T probably damaging Het
Sp1 C T 15: 102,408,529 (GRCm38) T154I possibly damaging Het
Spata31e1 A G 13: 49,786,632 (GRCm38) V534A possibly damaging Het
Srek1 A G 13: 103,752,449 (GRCm38) probably benign Het
Tmem129 A G 5: 33,655,576 (GRCm38) S143P possibly damaging Het
Tmem202 A T 9: 59,519,646 (GRCm38) C194S probably benign Het
Tmprss15 A T 16: 79,087,515 (GRCm38) I93K probably damaging Het
Ttn A G 2: 76,776,309 (GRCm38) Y16340H probably damaging Het
Uck1 C A 2: 32,260,141 (GRCm38) probably benign Het
Other mutations in Ddx50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Ddx50 APN 10 62,647,132 (GRCm38) missense probably benign
IGL01955:Ddx50 APN 10 62,647,183 (GRCm38) missense probably benign
IGL02677:Ddx50 APN 10 62,616,293 (GRCm38) missense unknown
IGL03169:Ddx50 APN 10 62,621,387 (GRCm38) critical splice donor site probably null
IGL03372:Ddx50 APN 10 62,643,330 (GRCm38) missense probably benign 0.11
K7371:Ddx50 UTSW 10 62,621,510 (GRCm38) start codon destroyed probably null
R0123:Ddx50 UTSW 10 62,621,377 (GRCm38) splice site probably benign
R0134:Ddx50 UTSW 10 62,621,377 (GRCm38) splice site probably benign
R0318:Ddx50 UTSW 10 62,642,837 (GRCm38) missense probably damaging 1.00
R0731:Ddx50 UTSW 10 62,616,249 (GRCm38) missense unknown
R1244:Ddx50 UTSW 10 62,642,924 (GRCm38) missense probably damaging 1.00
R1429:Ddx50 UTSW 10 62,647,068 (GRCm38) missense possibly damaging 0.45
R2005:Ddx50 UTSW 10 62,640,464 (GRCm38) missense probably benign 0.10
R2924:Ddx50 UTSW 10 62,627,594 (GRCm38) missense probably damaging 1.00
R3803:Ddx50 UTSW 10 62,639,944 (GRCm38) missense probably damaging 1.00
R3861:Ddx50 UTSW 10 62,642,946 (GRCm38) missense possibly damaging 0.91
R4169:Ddx50 UTSW 10 62,640,770 (GRCm38) nonsense probably null
R4917:Ddx50 UTSW 10 62,627,671 (GRCm38) nonsense probably null
R4918:Ddx50 UTSW 10 62,627,671 (GRCm38) nonsense probably null
R4951:Ddx50 UTSW 10 62,634,120 (GRCm38) missense probably damaging 0.99
R4962:Ddx50 UTSW 10 62,642,853 (GRCm38) missense probably damaging 1.00
R5102:Ddx50 UTSW 10 62,640,861 (GRCm38) missense probably damaging 1.00
R5403:Ddx50 UTSW 10 62,647,030 (GRCm38) missense probably benign
R5648:Ddx50 UTSW 10 62,616,270 (GRCm38) missense unknown
R5899:Ddx50 UTSW 10 62,640,817 (GRCm38) nonsense probably null
R6127:Ddx50 UTSW 10 62,621,563 (GRCm38) splice site probably null
R6244:Ddx50 UTSW 10 62,621,566 (GRCm38) splice site probably null
R8098:Ddx50 UTSW 10 62,625,143 (GRCm38) critical splice donor site probably null
R8163:Ddx50 UTSW 10 62,639,899 (GRCm38) missense possibly damaging 0.93
R8257:Ddx50 UTSW 10 62,616,520 (GRCm38) splice site probably benign
R8272:Ddx50 UTSW 10 62,621,477 (GRCm38) missense probably benign 0.05
R8356:Ddx50 UTSW 10 62,621,508 (GRCm38) missense probably benign 0.04
R8540:Ddx50 UTSW 10 62,640,790 (GRCm38) missense possibly damaging 0.94
R8759:Ddx50 UTSW 10 62,616,242 (GRCm38) missense unknown
R8995:Ddx50 UTSW 10 62,634,083 (GRCm38) missense probably damaging 1.00
R9001:Ddx50 UTSW 10 62,639,949 (GRCm38) missense probably benign 0.27
R9691:Ddx50 UTSW 10 62,640,745 (GRCm38) missense probably benign 0.03
R9799:Ddx50 UTSW 10 62,634,033 (GRCm38) missense probably damaging 1.00
X0026:Ddx50 UTSW 10 62,625,191 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-01-18