Incidental Mutation 'IGL02729:Ddx4'
ID305394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx4
Ensembl Gene ENSMUSG00000021758
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 4
SynonymsMvh, VASA, mvh / m'vasa
Accession Numbers

Genbank: NM_001145885, NM_010029

Is this an essential gene? Possibly essential (E-score: 0.708) question?
Stock #IGL02729
Quality Score
Status
Chromosome13
Chromosomal Location112598333-112652475 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) C to T at 112651412 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075748] [ENSMUST00000099166]
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
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 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,280,481 E1358G probably benign Het
Alpk1 T A 3: 127,681,072 L427F possibly damaging Het
Atat1 T C 17: 35,898,391 T326A probably benign Het
Calcr T A 6: 3,707,595 H235L probably benign Het
Cdc16 A G 8: 13,779,250 D512G possibly damaging Het
Cilp G A 9: 65,278,090 R489Q possibly damaging Het
Dennd1c T C 17: 57,066,637 D612G probably benign Het
Hyal6 A C 6: 24,734,695 Y209S probably damaging Het
Irf4 T C 13: 30,753,591 probably null Het
Itgae T C 11: 73,118,203 probably benign Het
L3mbtl4 C T 17: 68,484,743 T272I probably benign Het
Lyst T C 13: 13,674,339 I2037T possibly damaging Het
Lyst C A 13: 13,746,609 P3380Q possibly damaging Het
Mgat4b A G 11: 50,233,309 I359V probably benign Het
Mybl1 A T 1: 9,672,570 D604E probably benign Het
Myh7b A T 2: 155,625,689 S745C probably damaging Het
Olfr155 C A 4: 43,854,439 N43K probably damaging Het
Olfr51 T C 11: 51,007,065 F31S probably damaging Het
Olfr805 T G 10: 129,723,521 I8L probably benign Het
Pced1a A T 2: 130,421,903 H276Q probably benign Het
Pdx1 C A 5: 147,274,614 P215Q probably benign Het
Pdzd7 T C 19: 45,045,643 M1V probably null Het
Prrc2b T A 2: 32,208,758 M621K probably damaging Het
Ptprh T G 7: 4,580,874 N240H probably damaging Het
Rsph1 T A 17: 31,273,319 E91V probably damaging Het
Scn1a A G 2: 66,299,650 C1274R probably damaging Het
Skint7 C A 4: 111,982,170 F220L probably benign Het
Skiv2l G A 17: 34,839,605 P1179S possibly damaging Het
Slit1 T A 19: 41,603,334 Y1283F probably damaging Het
Taf1b A G 12: 24,547,625 probably benign Het
Tarsl2 C T 7: 65,682,819 T556M probably damaging Het
Utrn A G 10: 12,720,810 probably benign Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Zfp276 T C 8: 123,267,816 Y541H probably damaging Het
Zfp40 C T 17: 23,178,311 V3I probably damaging Het
Zfp536 T A 7: 37,493,718 H766L probably damaging Het
Zfyve21 A G 12: 111,825,051 I157V probably benign Het
Other mutations in Ddx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02030:Ddx4 APN 13 112624777 splice site probably benign
IGL02682:Ddx4 APN 13 112622186 missense probably benign 0.04
H8930:Ddx4 UTSW 13 112613833 splice site probably null
R0518:Ddx4 UTSW 13 112624779 critical splice donor site probably null
R0521:Ddx4 UTSW 13 112624779 critical splice donor site probably null
R1527:Ddx4 UTSW 13 112622239 missense possibly damaging 0.95
R1548:Ddx4 UTSW 13 112599997 missense probably damaging 1.00
R1773:Ddx4 UTSW 13 112599902 missense probably benign
R1886:Ddx4 UTSW 13 112622665 missense probably damaging 1.00
R1969:Ddx4 UTSW 13 112600013 missense probably damaging 0.99
R1969:Ddx4 UTSW 13 112620742 missense probably damaging 0.99
R1970:Ddx4 UTSW 13 112600013 missense probably damaging 0.99
R1971:Ddx4 UTSW 13 112600013 missense probably damaging 0.99
R2265:Ddx4 UTSW 13 112621276 missense probably benign 0.08
R2280:Ddx4 UTSW 13 112620656 missense probably benign 0.03
R2846:Ddx4 UTSW 13 112604612 missense probably damaging 0.99
R2906:Ddx4 UTSW 13 112620777 splice site probably benign
R2980:Ddx4 UTSW 13 112612085 missense probably damaging 1.00
R3732:Ddx4 UTSW 13 112611982 missense possibly damaging 0.56
R4085:Ddx4 UTSW 13 112613761 missense probably benign 0.05
R4088:Ddx4 UTSW 13 112613761 missense probably benign 0.05
R4089:Ddx4 UTSW 13 112613761 missense probably benign 0.05
R4090:Ddx4 UTSW 13 112613761 missense probably benign 0.05
R4600:Ddx4 UTSW 13 112612060 missense probably damaging 1.00
R4610:Ddx4 UTSW 13 112612060 missense probably damaging 1.00
R4669:Ddx4 UTSW 13 112622244 missense probably damaging 1.00
R4700:Ddx4 UTSW 13 112613735 missense probably damaging 1.00
R4782:Ddx4 UTSW 13 112613696 critical splice donor site probably null
R4782:Ddx4 UTSW 13 112651360 missense probably benign 0.10
R5326:Ddx4 UTSW 13 112621245 missense probably damaging 1.00
R5542:Ddx4 UTSW 13 112621245 missense probably damaging 1.00
R6111:Ddx4 UTSW 13 112621232 nonsense probably null
R6253:Ddx4 UTSW 13 112636022 nonsense probably null
R6253:Ddx4 UTSW 13 112636023 missense probably benign 0.00
R6286:Ddx4 UTSW 13 112613735 missense probably damaging 1.00
R6518:Ddx4 UTSW 13 112604547 missense probably benign
R6645:Ddx4 UTSW 13 112641174 missense possibly damaging 0.70
R7017:Ddx4 UTSW 13 112601488 missense probably damaging 1.00
R7155:Ddx4 UTSW 13 112613785 missense probably benign 0.01
Posted On2015-04-16