Incidental Mutation 'IGL01832:Ddx20'
ID 154801
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx20
Ensembl Gene ENSMUSG00000027905
Gene Name DEAD box helicase 20
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 20, GEMIN3, dp103
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01832
Quality Score
Status
Chromosome 3
Chromosomal Location 105585586-105594890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105586327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 673 (S673P)
Ref Sequence ENSEMBL: ENSMUSP00000088176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090680] [ENSMUST00000200078]
AlphaFold Q9JJY4
Predicted Effect probably damaging
Transcript: ENSMUST00000090680
AA Change: S673P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: S673P

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
DEXDc 82 280 7.47e-44 SMART
HELICc 324 405 2.8e-25 SMART
low complexity region 434 445 N/A INTRINSIC
low complexity region 646 668 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132008
Predicted Effect probably benign
Transcript: ENSMUST00000200078
SMART Domains Protein: ENSMUSP00000142675
Gene: ENSMUSG00000027905

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
Pfam:DEAD 87 134 7.6e-5 PFAM
Meta Mutation Damage Score 0.0795 question?
Coding Region Coverage
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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele fail to implant and develop past the 2-cell stage. Heterozygous null females are viable, healthy and fertile but show increased ovary weight, a greater number of empty follicles, a prolonged estrous phase, and reduced nocturnal and stress-induced serum ACTH levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Ddx20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Ddx20 APN 3 105,593,986 (GRCm39) missense probably damaging 1.00
IGL02072:Ddx20 APN 3 105,587,943 (GRCm39) missense probably damaging 1.00
IGL02821:Ddx20 APN 3 105,586,593 (GRCm39) missense probably benign 0.00
R0520:Ddx20 UTSW 3 105,594,692 (GRCm39) missense probably benign
R0600:Ddx20 UTSW 3 105,586,396 (GRCm39) missense probably damaging 1.00
R1648:Ddx20 UTSW 3 105,586,504 (GRCm39) missense probably benign 0.08
R1817:Ddx20 UTSW 3 105,585,896 (GRCm39) nonsense probably null
R1843:Ddx20 UTSW 3 105,586,398 (GRCm39) missense probably benign 0.00
R1922:Ddx20 UTSW 3 105,585,900 (GRCm39) missense probably damaging 1.00
R1955:Ddx20 UTSW 3 105,586,878 (GRCm39) missense possibly damaging 0.79
R1993:Ddx20 UTSW 3 105,586,660 (GRCm39) nonsense probably null
R2215:Ddx20 UTSW 3 105,587,656 (GRCm39) splice site probably benign
R2241:Ddx20 UTSW 3 105,590,521 (GRCm39) nonsense probably null
R2315:Ddx20 UTSW 3 105,586,015 (GRCm39) missense probably damaging 1.00
R4156:Ddx20 UTSW 3 105,586,249 (GRCm39) missense probably benign 0.41
R4790:Ddx20 UTSW 3 105,590,485 (GRCm39) missense probably benign 0.02
R4962:Ddx20 UTSW 3 105,587,921 (GRCm39) missense possibly damaging 0.95
R5072:Ddx20 UTSW 3 105,590,191 (GRCm39) critical splice donor site probably null
R5361:Ddx20 UTSW 3 105,590,825 (GRCm39) missense probably damaging 0.96
R5622:Ddx20 UTSW 3 105,586,327 (GRCm39) missense probably damaging 0.99
R5936:Ddx20 UTSW 3 105,587,903 (GRCm39) missense possibly damaging 0.96
R6007:Ddx20 UTSW 3 105,590,736 (GRCm39) missense possibly damaging 0.68
R6192:Ddx20 UTSW 3 105,586,036 (GRCm39) missense probably benign
R6916:Ddx20 UTSW 3 105,587,929 (GRCm39) missense probably damaging 1.00
R6957:Ddx20 UTSW 3 105,591,626 (GRCm39) missense probably benign 0.30
R6970:Ddx20 UTSW 3 105,587,674 (GRCm39) missense probably damaging 1.00
R8366:Ddx20 UTSW 3 105,594,695 (GRCm39) missense probably benign 0.37
R9176:Ddx20 UTSW 3 105,586,158 (GRCm39) missense probably benign 0.01
R9221:Ddx20 UTSW 3 105,587,685 (GRCm39) nonsense probably null
R9326:Ddx20 UTSW 3 105,591,735 (GRCm39) missense probably damaging 1.00
R9336:Ddx20 UTSW 3 105,585,903 (GRCm39) missense possibly damaging 0.93
Posted On 2014-02-04