Incidental Mutation 'R3769:Ddx3x'
ID 273197
Institutional Source Beutler Lab
Gene Symbol Ddx3x
Ensembl Gene ENSMUSG00000000787
Gene Name DEAD box helicase 3, X-linked
Synonyms D1Pas1-rs2, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3, X-linked, Fin14, Ddx3, embryonic RNA helicase
MMRRC Submission 040746-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.740) question?
Stock # R3769 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 13147261-13160222 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 13156808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000000804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000804]
AlphaFold Q62167
Predicted Effect probably benign
Transcript: ENSMUST00000000804
SMART Domains Protein: ENSMUSP00000000804
Gene: ENSMUSG00000000787

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
low complexity region 78 117 N/A INTRINSIC
DEXDc 199 418 1.48e-65 SMART
HELICc 455 536 1.23e-35 SMART
low complexity region 581 598 N/A INTRINSIC
low complexity region 600 656 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153851
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Hemizygous males and heterozygous females with a maternally inherited null allele show early embryonic and fetal lethality, respectively. Both males and females show defects in trophoblast giant cells. Females show defects in placental formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Ccer1 G A 10: 97,530,414 (GRCm39) G359E probably damaging Het
Cdkal1 T C 13: 29,736,386 (GRCm39) probably null Het
Celf1 T C 2: 90,828,993 (GRCm39) V20A probably damaging Het
Cep350 G A 1: 155,828,950 (GRCm39) T318I probably damaging Het
Chn2 A G 6: 54,267,396 (GRCm39) D159G probably damaging Het
Chst5 T A 8: 112,616,513 (GRCm39) D369V possibly damaging Het
Cmya5 A T 13: 93,233,201 (GRCm39) I629K possibly damaging Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Dpy19l4 T C 4: 11,276,868 (GRCm39) probably null Het
Fgf10 G T 13: 118,918,083 (GRCm39) V124F probably damaging Het
Gm6356 C A 14: 6,971,774 (GRCm38) M120I probably benign Het
Gm7964 T A 7: 83,405,338 (GRCm39) V76D probably damaging Het
Gm826 A G 2: 160,169,165 (GRCm39) V48A unknown Het
Hoxb5 A G 11: 96,194,795 (GRCm39) D119G possibly damaging Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Itgb2 T C 10: 77,385,802 (GRCm39) V255A possibly damaging Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Pdia6 T C 12: 17,320,457 (GRCm39) V32A probably damaging Het
Pex6 G T 17: 47,035,311 (GRCm39) probably null Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Polr2c G A 8: 95,586,928 (GRCm39) A65T probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,820,013 (GRCm39) T275A probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Slc35e1 A T 8: 73,245,714 (GRCm39) I155N possibly damaging Het
Slco1a4 A G 6: 141,785,357 (GRCm39) Y78H probably damaging Het
Snx15 T A 19: 6,173,984 (GRCm39) probably benign Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
U2surp A G 9: 95,375,750 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A G 9: 121,092,766 (GRCm39) V157A probably benign Het
Urgcp T C 11: 5,667,000 (GRCm39) Y446C probably damaging Het
Vps51 T C 19: 6,126,378 (GRCm39) T125A possibly damaging Het
Ypel1 T C 16: 16,927,532 (GRCm39) H20R probably benign Het
Zfp458 T A 13: 67,405,546 (GRCm39) I298F probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign Het
Other mutations in Ddx3x
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02253:Ddx3x APN X 13,151,207 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- CCCAATTCTAGTGGCTACAGC -3'
(R):5'- ATAAATCGTAGGCGGGTGTG -3'

Sequencing Primer
(F):5'- CCAATTCTAGTGGCTACAGCAGTATG -3'
(R):5'- GTGTGCATGGATTAAACAGCTTC -3'
Posted On 2015-03-25