Incidental Mutation 'R1648:Ddx20'
ID 174003
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 039684-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 105585586-105594890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105586504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 614 (I614V)
Ref Sequence ENSEMBL: ENSMUSP00000088176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090680] [ENSMUST00000200078]
AlphaFold Q9JJY4
Predicted Effect probably benign
Transcript: ENSMUST00000090680
AA Change: I614V

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: I614V

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 0.1159 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R 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
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
Predicted Primers PCR Primer
(F):5'- CACCCACAGGAGTACATTCAGTGTC -3'
(R):5'- GATTCCTCCAGTAACAGCCAGCATC -3'

Sequencing Primer
(F):5'- TCTGAGGAGCCTTCCAAGTAAG -3'
(R):5'- GCATCAGGCCAAAGATAGCTC -3'
Posted On 2014-04-24