Incidental Mutation 'R6970:Ddx20'
ID 542167
Institutional Source Beutler Lab
Gene Symbol Ddx20
Ensembl Gene ENSMUSG00000027905
Gene Name DEAD box helicase 20
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 20, GEMIN3, dp103
MMRRC Submission 045080-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6970 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 105585586-105594890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105587674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 434 (L434H)
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: L434H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: L434H

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,036,044 (GRCm39) Y285H possibly damaging Het
Adam17 A G 12: 21,395,669 (GRCm39) S285P probably benign Het
Adcy10 A G 1: 165,384,485 (GRCm39) N1082S probably benign Het
Ahdc1 T A 4: 132,789,656 (GRCm39) L299Q possibly damaging Het
Ambra1 T A 2: 91,602,945 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Atp8a1 A G 5: 67,895,805 (GRCm39) V543A probably damaging Het
BC034090 T A 1: 155,117,185 (GRCm39) D311V probably damaging Het
Blnk G T 19: 40,950,821 (GRCm39) P110Q probably damaging Het
Cc2d2a A G 5: 43,875,927 (GRCm39) E968G probably damaging Het
Ccdc14 A T 16: 34,529,903 (GRCm39) E394V probably damaging Het
Ccdc162 A T 10: 41,491,954 (GRCm39) H1086Q probably benign Het
Ccdc85b T A 19: 5,507,248 (GRCm39) I60F probably damaging Het
Ceacam20 T A 7: 19,723,902 (GRCm39) L562Q probably damaging Het
Cntrl T C 2: 35,008,149 (GRCm39) F188L probably benign Het
Cplane1 T C 15: 8,217,032 (GRCm39) V750A probably benign Het
Dclk1 A T 3: 55,374,022 (GRCm39) probably benign Het
Ddx51 G A 5: 110,804,728 (GRCm39) V547M probably damaging Het
Dnah11 T A 12: 118,072,679 (GRCm39) Q1472L probably benign Het
Dnajb13 T C 7: 100,156,629 (GRCm39) E149G probably damaging Het
Efcab3 A G 11: 104,667,182 (GRCm39) E1422G probably benign Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,924 (GRCm39) N3192S probably damaging Het
Fat4 A T 3: 39,050,120 (GRCm39) D3994V probably damaging Het
Fcgr1 C A 3: 96,191,936 (GRCm39) probably null Het
Gm12185 G A 11: 48,798,739 (GRCm39) R585* probably null Het
Gm32687 A G 10: 81,715,304 (GRCm39) H232R probably benign Het
Gm5431 G T 11: 48,779,317 (GRCm39) A535D probably damaging Het
Jarid2 C T 13: 45,056,461 (GRCm39) P556S probably damaging Het
Map3k4 C A 17: 12,467,803 (GRCm39) G1077V probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlxip A G 5: 123,583,735 (GRCm39) T433A possibly damaging Het
Ms4a20 A G 19: 11,089,678 (GRCm39) probably null Het
Mus81 G T 19: 5,535,554 (GRCm39) H199Q probably benign Het
Mylk3 G A 8: 86,085,892 (GRCm39) T54M probably damaging Het
Nalcn A G 14: 123,551,506 (GRCm39) F1034L possibly damaging Het
Nfatc1 A C 18: 80,710,228 (GRCm39) S513A probably benign Het
Ninj2 A G 6: 120,175,092 (GRCm39) I88V possibly damaging Het
Nomo1 C T 7: 45,695,391 (GRCm39) P277L probably damaging Het
Nup214 C T 2: 31,941,810 (GRCm39) S571L probably damaging Het
Or10g9b T A 9: 39,918,009 (GRCm39) M79L probably benign Het
Or5b3 T A 19: 13,388,792 (GRCm39) N286K probably damaging Het
Or9a7 T C 6: 40,521,590 (GRCm39) S108G probably benign Het
Pcdh15 C T 10: 74,338,519 (GRCm39) P1005S probably damaging Het
Pkhd1l1 G A 15: 44,375,070 (GRCm39) A942T possibly damaging Het
Plagl1 T C 10: 13,000,860 (GRCm39) C34R probably damaging Het
Plekha2 T C 8: 25,549,280 (GRCm39) Q168R probably benign Het
Plekha6 G A 1: 133,191,556 (GRCm39) A146T probably benign Het
Plekhm3 T G 1: 64,931,912 (GRCm39) K564T possibly damaging Het
Plpp2 A G 10: 79,366,380 (GRCm39) V26A possibly damaging Het
Prdm10 T G 9: 31,241,119 (GRCm39) Y302* probably null Het
Prdm8 A G 5: 98,332,471 (GRCm39) E124G probably damaging Het
Prg4 T G 1: 150,331,657 (GRCm39) probably benign Het
Qser1 A G 2: 104,618,475 (GRCm39) V779A probably benign Het
Rbm39 G A 2: 156,009,504 (GRCm39) R123C probably damaging Het
Ric1 C T 19: 29,565,172 (GRCm39) P640S probably damaging Het
Rpl14 G A 9: 120,403,293 (GRCm39) probably benign Het
Rsl1d1 T A 16: 11,011,558 (GRCm39) D382V probably benign Het
Rubcn G T 16: 32,688,514 (GRCm39) probably benign Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Slc26a11 T G 11: 119,247,798 (GRCm39) V41G probably damaging Het
Slc41a2 A G 10: 83,151,960 (GRCm39) F172L possibly damaging Het
Slc4a4 A C 5: 89,327,690 (GRCm39) Y674S probably damaging Het
Spata31e3 A T 13: 50,401,007 (GRCm39) Y440N possibly damaging Het
Strc A C 2: 121,208,495 (GRCm39) M292R probably benign Het
Syde2 A G 3: 145,694,381 (GRCm39) T210A probably benign Het
Tcf7l2 C A 19: 55,743,480 (GRCm39) A97E probably benign Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tepsin G A 11: 119,986,190 (GRCm39) T168M probably damaging Het
Tex15 A T 8: 34,047,456 (GRCm39) M178L probably benign Het
Tgfbr2 T C 9: 115,939,119 (GRCm39) N236S probably damaging Het
Tnrc18 A G 5: 142,713,744 (GRCm39) V2531A probably damaging Het
Ttn T G 2: 76,725,767 (GRCm39) probably benign Het
Tubgcp3 G T 8: 12,687,000 (GRCm39) D630E probably damaging Het
Ubr4 G A 4: 139,133,839 (GRCm39) W745* probably null Het
Vmn2r115 G A 17: 23,564,989 (GRCm39) G292D probably benign Het
Vmn2r38 T A 7: 9,078,340 (GRCm39) K681* probably null Het
Xrcc6 A G 15: 81,915,375 (GRCm39) K98E probably benign Het
Zfp423 A G 8: 88,530,407 (GRCm39) V13A probably benign Het
Zfp512b A G 2: 181,228,141 (GRCm39) I5T possibly damaging Het
Zmynd8 C T 2: 165,717,670 (GRCm39) E14K probably damaging Het
Other mutations in Ddx20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Ddx20 APN 3 105,593,986 (GRCm39) missense probably damaging 1.00
IGL01832:Ddx20 APN 3 105,586,327 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- AGATTAGCAATACTGTGTACCTCAC -3'
(R):5'- TGGCCGTTTTGGTAAGGAAC -3'

Sequencing Primer
(F):5'- GGACCTTTAATCCCAGTACTCAGGAG -3'
(R):5'- TTTTGGTAAGGAACAGGAAGTTTAG -3'
Posted On 2018-11-28