Incidental Mutation 'R2906:Ddx4'
ID 261667
Institutional Source Beutler Lab
Gene Symbol Ddx4
Ensembl Gene ENSMUSG00000021758
Gene Name DEAD box helicase 4
Synonyms VASA, mvh / m'vasa, DEAD (Asp-Glu-Ala-Asp) box polypeptide 4, Mvh
MMRRC Submission 040493-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.686) question?
Stock # R2906 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 112734867-112789009 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 112757311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075748] [ENSMUST00000099166]
AlphaFold Q61496
Predicted Effect probably benign
Transcript: ENSMUST00000075748
SMART Domains Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758

DomainStartEndE-ValueType
Blast:DEXDc 22 165 8e-14 BLAST
low complexity region 175 183 N/A INTRINSIC
low complexity region 221 229 N/A INTRINSIC
DEXDc 280 491 9.38e-59 SMART
HELICc 527 608 1.18e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099166
SMART Domains Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758

DomainStartEndE-ValueType
Blast:DEXDc 41 191 7e-25 BLAST
low complexity region 201 209 N/A INTRINSIC
low complexity region 247 255 N/A INTRINSIC
DEXDc 306 517 9.38e-59 SMART
HELICc 553 634 1.18e-32 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (37/38)
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 is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Spermatogenesis is blocked in homozygous mutant mice, resulting in male infertility. Female mutant mice are fertile and do not exhibit any obvious reproductive defects. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, other(3) Gene trapped(2)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Adgrg6 A G 10: 14,308,694 (GRCm39) I800T probably benign Het
Afg3l2 G A 18: 67,573,292 (GRCm39) T170M probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Cd96 T C 16: 45,871,850 (GRCm39) T432A possibly damaging Het
Col13a1 T C 10: 61,696,267 (GRCm39) probably benign Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Duoxa1 C T 2: 122,135,155 (GRCm39) V197M probably benign Het
Gm6430 A T 1: 96,952,554 (GRCm39) noncoding transcript Het
Gtf2a1l G A 17: 89,002,083 (GRCm39) R313H possibly damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Lax1 A T 1: 133,616,643 (GRCm39) M1K probably null Het
Lce1k T C 3: 92,713,882 (GRCm39) S101G unknown Het
Med12l T C 3: 59,164,503 (GRCm39) L1365P probably damaging Het
Mtx2 T C 2: 74,697,253 (GRCm39) S83P probably damaging Het
Naip2 A C 13: 100,298,504 (GRCm39) C511G probably damaging Het
Nefh A G 11: 4,890,216 (GRCm39) I801T probably benign Het
Or8g24 A G 9: 38,989,669 (GRCm39) V124A probably benign Het
Oxct2b A G 4: 123,010,823 (GRCm39) I248V probably benign Het
Pcdhgb2 A T 18: 37,823,908 (GRCm39) I300F probably damaging Het
Ptprc G A 1: 137,992,272 (GRCm39) A1285V possibly damaging Het
Rassf3 A G 10: 121,250,297 (GRCm39) L172P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Rpusd1 T C 17: 25,949,705 (GRCm39) S292P probably benign Het
Scamp5 A G 9: 57,351,146 (GRCm39) V172A probably damaging Het
Snx25 T C 8: 46,502,560 (GRCm39) probably null Het
Tmprss11g A G 5: 86,640,661 (GRCm39) probably benign Het
Ttll3 G C 6: 113,369,471 (GRCm39) probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Usp45 T A 4: 21,834,338 (GRCm39) Y805* probably null Het
Zfp639 T C 3: 32,573,900 (GRCm39) L175P probably damaging Het
Zfp995 T C 17: 22,099,247 (GRCm39) D329G probably benign Het
Other mutations in Ddx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02030:Ddx4 APN 13 112,761,311 (GRCm39) splice site probably benign
IGL02682:Ddx4 APN 13 112,758,720 (GRCm39) missense probably benign 0.04
IGL02729:Ddx4 APN 13 112,787,946 (GRCm39) utr 5 prime probably benign
H8930:Ddx4 UTSW 13 112,750,367 (GRCm39) splice site probably null
R0518:Ddx4 UTSW 13 112,761,313 (GRCm39) critical splice donor site probably null
R0521:Ddx4 UTSW 13 112,761,313 (GRCm39) critical splice donor site probably null
R1527:Ddx4 UTSW 13 112,758,773 (GRCm39) missense possibly damaging 0.95
R1548:Ddx4 UTSW 13 112,736,531 (GRCm39) missense probably damaging 1.00
R1773:Ddx4 UTSW 13 112,736,436 (GRCm39) missense probably benign
R1886:Ddx4 UTSW 13 112,759,199 (GRCm39) missense probably damaging 1.00
R1969:Ddx4 UTSW 13 112,757,276 (GRCm39) missense probably damaging 0.99
R1969:Ddx4 UTSW 13 112,736,547 (GRCm39) missense probably damaging 0.99
R1970:Ddx4 UTSW 13 112,736,547 (GRCm39) missense probably damaging 0.99
R1971:Ddx4 UTSW 13 112,736,547 (GRCm39) missense probably damaging 0.99
R2265:Ddx4 UTSW 13 112,757,810 (GRCm39) missense probably benign 0.08
R2280:Ddx4 UTSW 13 112,757,190 (GRCm39) missense probably benign 0.03
R2846:Ddx4 UTSW 13 112,741,146 (GRCm39) missense probably damaging 0.99
R2980:Ddx4 UTSW 13 112,748,619 (GRCm39) missense probably damaging 1.00
R3732:Ddx4 UTSW 13 112,748,516 (GRCm39) missense possibly damaging 0.56
R4085:Ddx4 UTSW 13 112,750,295 (GRCm39) missense probably benign 0.05
R4088:Ddx4 UTSW 13 112,750,295 (GRCm39) missense probably benign 0.05
R4089:Ddx4 UTSW 13 112,750,295 (GRCm39) missense probably benign 0.05
R4090:Ddx4 UTSW 13 112,750,295 (GRCm39) missense probably benign 0.05
R4600:Ddx4 UTSW 13 112,748,594 (GRCm39) missense probably damaging 1.00
R4610:Ddx4 UTSW 13 112,748,594 (GRCm39) missense probably damaging 1.00
R4669:Ddx4 UTSW 13 112,758,778 (GRCm39) missense probably damaging 1.00
R4700:Ddx4 UTSW 13 112,750,269 (GRCm39) missense probably damaging 1.00
R4782:Ddx4 UTSW 13 112,787,894 (GRCm39) missense probably benign 0.10
R4782:Ddx4 UTSW 13 112,750,230 (GRCm39) critical splice donor site probably null
R5326:Ddx4 UTSW 13 112,757,779 (GRCm39) missense probably damaging 1.00
R5542:Ddx4 UTSW 13 112,757,779 (GRCm39) missense probably damaging 1.00
R6111:Ddx4 UTSW 13 112,757,766 (GRCm39) nonsense probably null
R6253:Ddx4 UTSW 13 112,772,557 (GRCm39) missense probably benign 0.00
R6253:Ddx4 UTSW 13 112,772,556 (GRCm39) nonsense probably null
R6286:Ddx4 UTSW 13 112,750,269 (GRCm39) missense probably damaging 1.00
R6518:Ddx4 UTSW 13 112,741,081 (GRCm39) missense probably benign
R6645:Ddx4 UTSW 13 112,777,708 (GRCm39) missense possibly damaging 0.70
R7017:Ddx4 UTSW 13 112,738,022 (GRCm39) missense probably damaging 1.00
R7155:Ddx4 UTSW 13 112,750,319 (GRCm39) missense probably benign 0.01
R7822:Ddx4 UTSW 13 112,748,647 (GRCm39) missense probably damaging 1.00
R7921:Ddx4 UTSW 13 112,738,041 (GRCm39) missense probably benign
R8041:Ddx4 UTSW 13 112,762,928 (GRCm39) missense probably benign
R8048:Ddx4 UTSW 13 112,758,706 (GRCm39) missense probably null 1.00
R8939:Ddx4 UTSW 13 112,758,823 (GRCm39) missense probably benign 0.21
R9325:Ddx4 UTSW 13 112,736,441 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CGGCACTCCAGATATACTTTACTTAC -3'
(R):5'- TGTTGTCACTGTCCAAGATACG -3'

Sequencing Primer
(F):5'- ATACACTCTGGTTCCTGC -3'
(R):5'- CACTGTCCAAGATACGTAAATATGC -3'
Posted On 2015-01-23