Incidental Mutation 'R0134:Ddx50'
ID 21831
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 038419-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R0134 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62615895-62651218 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 62621377 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000020270]
AlphaFold Q99MJ9
Predicted Effect probably benign
Transcript: ENSMUST00000020270
SMART Domains Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076

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 probably benign
Transcript: ENSMUST00000218304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218372
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.4%
  • 20x: 93.3%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik G A 18: 38,261,264 (GRCm38) V505I probably benign Het
1110059E24Rik T C 19: 21,598,201 (GRCm38) probably benign Het
Abca16 T A 7: 120,540,155 (GRCm38) L1470Q probably damaging Het
Arhgap23 G T 11: 97,444,328 (GRCm38) V70L probably benign Het
AW549877 T C 15: 3,986,294 (GRCm38) K263E probably damaging Het
Bicd1 T C 6: 149,512,950 (GRCm38) I387T probably benign Het
Btbd9 C T 17: 30,274,942 (GRCm38) D492N possibly damaging Het
Cd59b G A 2: 104,078,941 (GRCm38) probably null Het
Dnlz T C 2: 26,351,368 (GRCm38) N116S probably damaging Het
Efcab14 T C 4: 115,740,531 (GRCm38) F108L probably damaging Het
Esyt2 A G 12: 116,367,710 (GRCm38) N736S probably damaging Het
Exoc4 A G 6: 33,971,946 (GRCm38) D908G possibly damaging Het
Garnl3 T C 2: 33,006,804 (GRCm38) T608A possibly damaging Het
Hdac2 T A 10: 36,989,184 (GRCm38) D131E probably benign Het
Hes1 T C 16: 30,067,250 (GRCm38) V224A probably damaging Het
Hps1 G T 19: 42,766,180 (GRCm38) Q277K probably damaging Het
Ighv15-2 T G 12: 114,565,037 (GRCm38) probably benign Het
Il3 A G 11: 54,265,680 (GRCm38) probably null Het
Itgae A C 11: 73,111,342 (GRCm38) M91L probably benign Het
Kctd21 T A 7: 97,348,091 (GRCm38) I257N probably benign Het
Kif16b A T 2: 142,672,375 (GRCm38) S1215T probably benign Het
Lhx9 A T 1: 138,838,679 (GRCm38) C124S probably damaging Het
Lipo4 A G 19: 33,501,606 (GRCm38) V278A probably benign Het
Lrp1b T C 2: 40,596,983 (GRCm38) E142G probably damaging Het
Macf1 T C 4: 123,432,843 (GRCm38) M2835V possibly damaging Het
Map9 G A 3: 82,359,983 (GRCm38) probably benign Het
Miox C T 15: 89,334,454 (GRCm38) probably benign Het
Mndal A T 1: 173,857,513 (GRCm38) probably benign Het
Nanos3 C T 8: 84,176,134 (GRCm38) R133Q probably damaging Het
Nepn A T 10: 52,400,437 (GRCm38) T29S probably damaging Het
Nlgn1 C T 3: 25,435,925 (GRCm38) C546Y probably damaging Het
Olfr1055 T C 2: 86,347,728 (GRCm38) I13V possibly damaging Het
Olfr307 A G 7: 86,335,595 (GRCm38) I267T probably benign Het
Pdgfra A G 5: 75,166,511 (GRCm38) D123G probably damaging Het
Plekhn1 T C 4: 156,228,243 (GRCm38) R53G probably benign Het
Pnp2 T C 14: 50,963,177 (GRCm38) F100S probably damaging Het
Prickle1 A G 15: 93,510,777 (GRCm38) L47P possibly damaging Het
Ptar1 T A 19: 23,718,095 (GRCm38) C309S probably benign Het
Rxfp1 A G 3: 79,657,476 (GRCm38) S327P probably damaging Het
Siah2 A G 3: 58,676,115 (GRCm38) V250A probably damaging Het
Siglecg G A 7: 43,411,171 (GRCm38) G325D probably damaging Het
Slc10a7 T A 8: 78,697,158 (GRCm38) probably null Het
Slc9a1 A G 4: 133,420,605 (GRCm38) K645E probably benign Het
Smarca4 T C 9: 21,637,324 (GRCm38) L302P probably damaging Het
Smyd1 G T 6: 71,216,765 (GRCm38) T392N probably damaging Het
Snrnp40 C G 4: 130,378,043 (GRCm38) probably null Het
Tenm3 A T 8: 48,674,472 (GRCm38) L57Q probably damaging Het
Tep1 C T 14: 50,829,693 (GRCm38) V2269I possibly damaging Het
Tpd52l1 A G 10: 31,379,256 (GRCm38) S32P probably damaging Het
Tsfm A G 10: 127,022,929 (GRCm38) probably benign Het
Ttn C A 2: 76,793,130 (GRCm38) V15368L possibly damaging Het
Ttn T A 2: 76,710,124 (GRCm38) R34173W probably damaging Het
Vmn2r13 C A 5: 109,175,049 (GRCm38) V125L probably benign Het
Vps13b T C 15: 35,887,261 (GRCm38) I3272T probably benign Het
Zfp108 A G 7: 24,260,467 (GRCm38) H161R probably benign Het
Zfp518b A G 5: 38,674,659 (GRCm38) M1T probably null 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
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
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
(F):5'- tcctaacattcattaaatggtcctg -3'
Posted On 2013-04-12