Incidental Mutation 'R5102:Ddx50'
ID 500878
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 042690-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R5102 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62615895-62651218 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62640861 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 211 (V211E)
Ref Sequence ENSEMBL: ENSMUSP00000020270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020270]
AlphaFold Q99MJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000020270
AA Change: V211E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: V211E

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: ENSMUST00000218372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219076
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 C T 1: 58,240,778 (GRCm38) R518C probably damaging Het
Apbb2 A T 5: 66,312,249 (GRCm38) probably null Het
Arhgap45 C T 10: 80,021,428 (GRCm38) P254S probably benign Het
Arl4c T C 1: 88,701,600 (GRCm38) D22G probably damaging Het
Asxl1 A G 2: 153,400,955 (GRCm38) T1142A probably benign Het
BC035044 T C 6: 128,884,986 (GRCm38) probably benign Het
Bmp4 T C 14: 46,384,001 (GRCm38) N362S probably damaging Het
Cbll1 G T 12: 31,487,913 (GRCm38) T280N probably damaging Het
Cdh10 A T 15: 18,986,885 (GRCm38) T401S probably benign Het
Cmklr2 A G 1: 63,183,167 (GRCm38) V303A probably damaging Het
Cps1 A T 1: 67,206,793 (GRCm38) M1148L probably benign Het
Crybg1 T C 10: 43,997,836 (GRCm38) D1092G probably damaging Het
Cyth2 A G 7: 45,810,702 (GRCm38) S173P probably damaging Het
D6Ertd527e A T 6: 87,111,811 (GRCm38) I319F unknown Het
Dchs1 A T 7: 105,772,177 (GRCm38) H345Q probably benign Het
Dlx6 AGG AG 6: 6,865,180 (GRCm38) probably null Het
Dnajb5 G A 4: 42,956,639 (GRCm38) D109N possibly damaging Het
Dner A T 1: 84,405,970 (GRCm38) N564K probably damaging Het
Fam234b T C 6: 135,209,284 (GRCm38) S97P probably benign Het
Fam53b G A 7: 132,715,955 (GRCm38) R60* probably null Het
Fmo3 T G 1: 162,963,977 (GRCm38) K244Q probably benign Het
Golim4 A G 3: 75,903,272 (GRCm38) I192T possibly damaging Het
Gprin1 T C 13: 54,739,763 (GRCm38) M233V probably benign Het
Gtf2f1 A T 17: 57,003,626 (GRCm38) V443D probably damaging Het
Hmgcs2 T C 3: 98,280,470 (GRCm38) probably benign Het
Ide T A 19: 37,314,984 (GRCm38) I271L unknown Het
Kat8 G A 7: 127,924,816 (GRCm38) E343K probably damaging Het
Kif14 A G 1: 136,516,403 (GRCm38) I1378V probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,201,423 (GRCm38) probably null Het
Lhx6 T C 2: 36,094,210 (GRCm38) probably null Het
Lrp2 C T 2: 69,489,158 (GRCm38) G2007D probably damaging Het
Lrp5 T C 19: 3,659,304 (GRCm38) K142R probably damaging Het
Macroh2a1 C G 13: 56,096,123 (GRCm38) probably null Het
Mrpl2 G A 17: 46,650,038 (GRCm38) R286Q probably benign Het
Mtrfr A G 5: 124,338,891 (GRCm38) N83D probably damaging Het
Nacad T A 11: 6,598,528 (GRCm38) D1402V probably damaging Het
Ndfip2 T C 14: 105,298,105 (GRCm38) I275T possibly damaging Het
Neb A C 2: 52,226,570 (GRCm38) V4131G possibly damaging Het
Nfe2l1 G A 11: 96,822,108 (GRCm38) A83V probably damaging Het
Nos3 A G 5: 24,371,627 (GRCm38) D418G probably damaging Het
Or12e7 A T 2: 87,457,794 (GRCm38) M210L probably benign Het
Or1n1b T A 2: 36,890,044 (GRCm38) K268M possibly damaging Het
Plcd4 A G 1: 74,565,154 (GRCm38) T764A probably damaging Het
Plppr3 G T 10: 79,865,386 (GRCm38) P541T possibly damaging Het
Polr2a A G 11: 69,746,945 (GRCm38) I191T possibly damaging Het
Pramel18 T C 4: 101,909,239 (GRCm38) F40S probably damaging Het
Rab11fip1 T C 8: 27,156,374 (GRCm38) K225E probably damaging Het
Rara A T 11: 98,966,359 (GRCm38) Q64L possibly damaging Het
Rtkn G A 6: 83,149,773 (GRCm38) V305M probably damaging Het
Sh2b1 A C 7: 126,471,236 (GRCm38) F399V probably benign Het
Slc7a4 T C 16: 17,575,618 (GRCm38) T106A probably damaging Het
Srcap G A 7: 127,530,623 (GRCm38) G539D probably damaging Het
Stab1 C T 14: 31,148,017 (GRCm38) probably null Het
Zfp267 G A 3: 36,162,665 (GRCm38) C55Y possibly damaging 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
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
R8537:Ddx50 UTSW 10 62,642,849 (GRCm38) missense probably damaging 1.00
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 2017-12-01