Incidental Mutation 'IGL01832:Ddx20'
ID154801
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx20
Ensembl Gene ENSMUSG00000027905
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 20
SynonymsGEMIN3, dp103
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01832
Quality Score
Status
Chromosome3
Chromosomal Location105678270-105687574 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105679011 bp
ZygosityHeterozygous
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]
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: 77,259,129 T681I probably benign Het
Atg4b T C 1: 93,785,904 probably benign Het
Atp10b T A 11: 43,234,435 M1076K probably damaging Het
Atp23 A T 10: 126,894,345 N111K probably damaging Het
Atxn2 C A 5: 121,806,268 Y72* probably null Het
C1qtnf12 A G 4: 155,965,866 D220G probably damaging Het
C2cd3 A T 7: 100,427,214 T1171S possibly damaging Het
Ccdc15 G A 9: 37,311,344 R585W probably damaging Het
Cep152 A C 2: 125,618,494 Y179* probably null Het
Cpa2 T C 6: 30,551,999 S242P probably benign Het
Ctps2 G T X: 162,936,703 probably benign Het
Cttnbp2nl A G 3: 105,011,228 S99P probably damaging Het
Erbb4 T C 1: 68,254,566 K722R possibly damaging Het
Ercc8 A G 13: 108,169,459 T123A probably damaging Het
Ermard T C 17: 15,059,849 V87A probably damaging Het
Fkbp8 A G 8: 70,531,545 H182R probably benign Het
Gab2 T C 7: 97,304,238 L606P probably damaging Het
Gls C T 1: 52,168,409 probably null Het
Hook3 A T 8: 26,072,365 M224K possibly damaging Het
Itga5 T A 15: 103,355,949 K298* probably null Het
Lrrc74a C A 12: 86,761,714 T422K probably benign Het
Myh9 A C 15: 77,791,753 D244E probably benign Het
Ndrg4 A G 8: 95,713,319 E349G probably damaging Het
Olfr1158 T A 2: 87,990,169 D19E probably benign Het
Otop2 T C 11: 115,326,943 S202P probably benign Het
Plppr2 C A 9: 21,943,446 R138S possibly damaging Het
Prkaca A C 8: 83,990,737 K206N probably damaging Het
Ptpro C T 6: 137,393,668 T589I possibly damaging Het
Ptprq A G 10: 107,565,839 probably null Het
Slc16a5 T C 11: 115,465,001 V96A probably benign Het
Ssfa2 G A 2: 79,651,418 V481M possibly damaging Het
Tcerg1 A G 18: 42,574,555 K1047E probably damaging Het
Tinag T C 9: 77,031,756 K147E probably benign Het
Urgcp T C 11: 5,717,325 T338A probably damaging Het
Wdr74 C T 19: 8,739,938 R299C probably damaging Het
Zzef1 C T 11: 72,875,066 S1473L probably damaging Het
Other mutations in Ddx20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Ddx20 APN 3 105686670 missense probably damaging 1.00
IGL02072:Ddx20 APN 3 105680627 missense probably damaging 1.00
IGL02821:Ddx20 APN 3 105679277 missense probably benign 0.00
R0520:Ddx20 UTSW 3 105687376 missense probably benign
R0600:Ddx20 UTSW 3 105679080 missense probably damaging 1.00
R1648:Ddx20 UTSW 3 105679188 missense probably benign 0.08
R1817:Ddx20 UTSW 3 105678580 nonsense probably null
R1843:Ddx20 UTSW 3 105679082 missense probably benign 0.00
R1922:Ddx20 UTSW 3 105678584 missense probably damaging 1.00
R1955:Ddx20 UTSW 3 105679562 missense possibly damaging 0.79
R1993:Ddx20 UTSW 3 105679344 nonsense probably null
R2215:Ddx20 UTSW 3 105680340 splice site probably benign
R2241:Ddx20 UTSW 3 105683205 nonsense probably null
R2315:Ddx20 UTSW 3 105678699 missense probably damaging 1.00
R4156:Ddx20 UTSW 3 105678933 missense probably benign 0.41
R4790:Ddx20 UTSW 3 105683169 missense probably benign 0.02
R4962:Ddx20 UTSW 3 105680605 missense possibly damaging 0.95
R5072:Ddx20 UTSW 3 105682875 critical splice donor site probably null
R5361:Ddx20 UTSW 3 105683509 missense probably damaging 0.96
R5622:Ddx20 UTSW 3 105679011 missense probably damaging 0.99
R5936:Ddx20 UTSW 3 105680587 missense possibly damaging 0.96
R6007:Ddx20 UTSW 3 105683420 missense possibly damaging 0.68
R6192:Ddx20 UTSW 3 105678720 missense probably benign
R6916:Ddx20 UTSW 3 105680613 missense probably damaging 1.00
R6957:Ddx20 UTSW 3 105684310 missense probably benign 0.30
R6970:Ddx20 UTSW 3 105680358 missense probably damaging 1.00
Posted On2014-02-04