Incidental Mutation 'R6244:Ddx50'
ID 505463
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 044435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R6244 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62615895-62651218 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 62621566 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000020270]
AlphaFold Q99MJ9
Predicted Effect probably null
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 null
Transcript: ENSMUST00000218304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218372
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 96% (82/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,956,999 (GRCm38) V1782A probably benign Het
6430550D23Rik T C 2: 156,003,230 (GRCm38) H113R possibly damaging Het
Adgrf3 A T 5: 30,197,533 (GRCm38) M499K probably benign Het
Adgrv1 G A 13: 81,106,931 (GRCm38) T211I probably damaging Het
Adss C T 1: 177,776,829 (GRCm38) E153K probably benign Het
Ago4 C A 4: 126,511,487 (GRCm38) G431V possibly damaging Het
Araf G T X: 20,860,100 (GRCm38) R601L probably damaging Homo
Atp2b4 T A 1: 133,726,561 (GRCm38) I769F probably damaging Het
Atp9a T C 2: 168,689,352 (GRCm38) probably null Het
Brap C A 5: 121,665,309 (GRCm38) D173E probably benign Het
Brca2 G T 5: 150,566,978 (GRCm38) R3035L probably benign Het
Ccdc8 C A 7: 16,996,251 (GRCm38) P555Q probably benign Het
Ccser2 A G 14: 36,940,718 (GRCm38) S170P probably benign Het
Celsr2 T C 3: 108,393,128 (GRCm38) H860R probably damaging Het
Cenpc1 C A 5: 86,046,385 (GRCm38) R174M probably damaging Het
Cfap57 T G 4: 118,579,410 (GRCm38) I930L probably damaging Het
Cx3cr1 C T 9: 120,051,694 (GRCm38) R214H probably damaging Het
Cyp4f14 T A 17: 32,906,317 (GRCm38) H429L probably benign Het
D5Ertd579e A G 5: 36,615,276 (GRCm38) F592L probably damaging Het
Ddb1 A G 19: 10,625,923 (GRCm38) E865G probably damaging Het
Dpp6 A G 5: 27,049,628 (GRCm38) T14A probably damaging Het
Echs1 C A 7: 140,113,069 (GRCm38) Q51H possibly damaging Het
Ecm2 A T 13: 49,530,307 (GRCm38) D587V probably damaging Het
Ect2l A T 10: 18,140,397 (GRCm38) Y666N possibly damaging Het
Epha2 G A 4: 141,316,912 (GRCm38) G342S probably benign Het
Fbxo33 C A 12: 59,206,079 (GRCm38) K211N probably benign Het
Fchsd2 A G 7: 101,259,776 (GRCm38) probably null Het
Fen1 A G 19: 10,200,687 (GRCm38) V131A probably damaging Het
Fetub C T 16: 22,932,331 (GRCm38) R143C probably damaging Het
Flnb A G 14: 7,892,092 (GRCm38) E587G probably damaging Het
Foxd3 A G 4: 99,657,240 (GRCm38) T206A possibly damaging Het
Fut1 A G 7: 45,619,306 (GRCm38) E228G possibly damaging Het
Galnt13 T C 2: 54,933,548 (GRCm38) F379L probably damaging Het
Gcnt2 A C 13: 40,861,241 (GRCm38) E296A probably damaging Het
Gm7145 T A 1: 117,986,140 (GRCm38) C251S probably damaging Het
Gpam G A 19: 55,070,985 (GRCm38) P810L probably damaging Het
Il1rl2 T A 1: 40,327,566 (GRCm38) L87M possibly damaging Het
Itgae A G 11: 73,145,601 (GRCm38) S1122G probably damaging Het
Kcnh7 T A 2: 63,182,226 (GRCm38) D46V probably damaging Het
Kcnn3 T G 3: 89,645,523 (GRCm38) Y511* probably null Het
Kdm3b T A 18: 34,793,005 (GRCm38) I66N probably damaging Het
Klk1b27 A T 7: 44,054,550 (GRCm38) H39L probably benign Het
Kmo C T 1: 175,659,695 (GRCm38) T404I possibly damaging Het
Krt222 C T 11: 99,235,058 (GRCm38) probably null Het
Magi3 G C 3: 104,015,697 (GRCm38) H1235D probably benign Het
Mapk8ip1 C A 2: 92,389,244 (GRCm38) G81C probably damaging Het
Med15 G A 16: 17,652,745 (GRCm38) Q583* probably null Het
Mroh2a T C 1: 88,256,754 (GRCm38) V1453A probably benign Het
Myh13 A G 11: 67,362,501 (GRCm38) M1488V probably benign Het
Naip2 A T 13: 100,152,137 (GRCm38) F1193L probably damaging Het
Nop58 T A 1: 59,702,855 (GRCm38) M181K probably damaging Het
Npepps A T 11: 97,213,790 (GRCm38) V796D probably damaging Het
Nr1d1 A G 11: 98,770,537 (GRCm38) F301S probably damaging Het
Nynrin G A 14: 55,868,028 (GRCm38) V832I probably damaging Het
Olfr1046 T A 2: 86,217,222 (GRCm38) T163S possibly damaging Het
Olfr1508 T A 14: 52,463,895 (GRCm38) Y38F probably damaging Het
Olfr320 A T 11: 58,684,004 (GRCm38) T44S possibly damaging Het
Olfr342 T A 2: 36,528,341 (GRCm38) C310S probably benign Het
Olfr61 C A 7: 140,638,433 (GRCm38) S244Y probably damaging Het
Phrf1 T A 7: 141,237,673 (GRCm38) C132S probably damaging Het
Plekhn1 T C 4: 156,230,558 (GRCm38) probably null Het
Polr2a G A 11: 69,744,226 (GRCm38) T569M probably damaging Het
Prr29 A G 11: 106,376,632 (GRCm38) probably null Het
Rsf1 CG CGACGGCGGAG 7: 97,579,908 (GRCm38) probably benign Homo
Sc5d T C 9: 42,255,421 (GRCm38) E274G probably benign Het
Serpina1d A T 12: 103,764,828 (GRCm38) probably null Het
Serpinb11 T A 1: 107,372,242 (GRCm38) I106N probably damaging Het
Setd2 G A 9: 110,548,665 (GRCm38) R516K probably damaging Het
Sirt2 G T 7: 28,787,797 (GRCm38) C291F probably damaging Het
Stac3 T C 10: 127,508,175 (GRCm38) V314A probably damaging Het
Stat6 C T 10: 127,657,712 (GRCm38) probably null Het
Strn3 A G 12: 51,610,107 (GRCm38) V712A probably damaging Het
Tmc5 G T 7: 118,634,214 (GRCm38) G84C possibly damaging Het
Tnik C A 3: 28,650,179 (GRCm38) L996I probably damaging Het
Trim30d G T 7: 104,487,610 (GRCm38) T129K probably damaging Het
Triml1 G T 8: 43,138,756 (GRCm38) Y188* probably null Het
Trpc7 A G 13: 56,773,892 (GRCm38) Y760H probably damaging Het
Uaca G A 9: 60,870,044 (GRCm38) R571Q probably damaging Het
Ubash3a A T 17: 31,239,272 (GRCm38) Q575L possibly damaging Het
Usp49 T A 17: 47,672,902 (GRCm38) C61* probably null Het
Vmn2r18 A T 5: 151,584,651 (GRCm38) V336E probably damaging Het
Vwa8 T C 14: 79,086,662 (GRCm38) V1135A probably benign Het
Zcchc4 T C 5: 52,783,161 (GRCm38) V24A probably benign Het
Zfp354c A G 11: 50,814,971 (GRCm38) Y426H 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
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 2018-02-28