Incidental Mutation 'IGL02440:Ddx25'
ID293439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx25
Ensembl Gene ENSMUSG00000032101
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 25
SynonymsGRTH
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #IGL02440
Quality Score
Status
Chromosome9
Chromosomal Location35536647-35558528 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 35557678 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034612] [ENSMUST00000034615] [ENSMUST00000115110] [ENSMUST00000121246]
Predicted Effect probably benign
Transcript: ENSMUST00000034612
SMART Domains Protein: ENSMUSP00000034612
Gene: ENSMUSG00000032101

DomainStartEndE-ValueType
low complexity region 50 61 N/A INTRINSIC
low complexity region 101 111 N/A INTRINSIC
DEXDc 117 316 1.26e-41 SMART
HELICc 353 440 6.18e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034615
SMART Domains Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103

DomainStartEndE-ValueType
coiled coil region 1 46 N/A INTRINSIC
Pfam:PseudoU_synth_1 68 190 6.8e-12 PFAM
Pfam:PseudoU_synth_1 213 331 4.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115110
SMART Domains Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555

DomainStartEndE-ValueType
low complexity region 87 100 N/A INTRINSIC
Pfam:HYLS1_C 211 299 6.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121246
SMART Domains Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103

DomainStartEndE-ValueType
coiled coil region 1 46 N/A INTRINSIC
Pfam:PseudoU_synth_1 68 190 3e-12 PFAM
Pfam:PseudoU_synth_1 213 316 1.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135768
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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility, arrest of spermatogenesis at step 8, abnormal Leydig cells, and increased germ cell apoptosis in males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,667,434 probably benign Het
Bmt2 C T 6: 13,628,610 R358Q probably damaging Het
C2cd6 A G 1: 59,075,100 I182T probably benign Het
Calr3 T C 8: 72,431,432 T100A probably benign Het
Ccdc129 A G 6: 55,884,728 T97A possibly damaging Het
Cln3 T C 7: 126,582,782 K36R probably benign Het
Dmxl2 A T 9: 54,406,615 V1677E probably damaging Het
Dnah10 A G 5: 124,773,819 E1684G probably damaging Het
Dnah9 A G 11: 65,955,246 S2989P probably damaging Het
F5 A T 1: 164,207,066 T1845S possibly damaging Het
Folh1 G T 7: 86,734,104 N478K probably benign Het
Gpr22 T C 12: 31,709,140 I328V probably damaging Het
Itln1 C T 1: 171,531,529 A128T probably benign Het
Kank1 A G 19: 25,432,908 K1322R probably damaging Het
Klhdc2 A G 12: 69,303,640 Y153C probably damaging Het
Lonp2 T A 8: 86,624,185 M1K probably null Het
Mtor T A 4: 148,546,429 M2281K probably benign Het
Mtor T A 4: 148,491,647 N1378K probably benign Het
Myo1e G A 9: 70,346,740 R557H probably damaging Het
Nedd4l T C 18: 65,163,173 probably null Het
Olfr1504 A T 19: 13,887,859 M117K probably damaging Het
Olfr325 A T 11: 58,581,209 M122L probably damaging Het
Olfr373 T A 8: 72,100,530 F257I probably damaging Het
Olfr457 T C 6: 42,472,166 D4G probably benign Het
Pcdh18 T C 3: 49,744,603 probably benign Het
Phldb1 T C 9: 44,715,403 T582A probably damaging Het
Plxna2 A T 1: 194,746,150 E509D probably benign Het
Poln A T 5: 34,129,130 D231E probably damaging Het
Prex2 G A 1: 11,153,657 R735Q possibly damaging Het
Prpf40b T C 15: 99,306,866 S263P probably damaging Het
Sfmbt2 C T 2: 10,568,383 A574V probably damaging Het
Slc12a3 T C 8: 94,331,682 I152T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,145,293 I391V probably benign Het
Tbx4 A G 11: 85,890,894 E80G probably damaging Het
Vmn2r22 A G 6: 123,637,405 Y409H probably benign Het
Zfp691 T G 4: 119,170,296 R246S probably damaging Het
Zfp846 T C 9: 20,588,500 probably benign Het
Other mutations in Ddx25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ddx25 APN 9 35543595 splice site probably benign
IGL00951:Ddx25 APN 9 35552835 critical splice donor site probably null
IGL02237:Ddx25 APN 9 35542069 splice site probably benign
IGL02270:Ddx25 APN 9 35554412 splice site probably benign
IGL02273:Ddx25 APN 9 35546826 missense possibly damaging 0.95
IGL02325:Ddx25 APN 9 35554508 unclassified probably benign
IGL02422:Ddx25 APN 9 35551364 missense probably null 1.00
IGL02798:Ddx25 APN 9 35551397 missense probably damaging 1.00
IGL03339:Ddx25 APN 9 35542003 missense probably damaging 1.00
R0633:Ddx25 UTSW 9 35545972 missense probably damaging 0.99
R0893:Ddx25 UTSW 9 35554390 nonsense probably null
R1171:Ddx25 UTSW 9 35546846 nonsense probably null
R1448:Ddx25 UTSW 9 35557738 missense probably benign
R1453:Ddx25 UTSW 9 35542002 missense probably damaging 1.00
R1582:Ddx25 UTSW 9 35545976 missense probably damaging 0.97
R3055:Ddx25 UTSW 9 35551351 missense probably damaging 1.00
R5960:Ddx25 UTSW 9 35554511 splice site probably null
R7425:Ddx25 UTSW 9 35554586 missense probably benign 0.08
R7535:Ddx25 UTSW 9 35543655 missense possibly damaging 0.89
R7610:Ddx25 UTSW 9 35554597 missense possibly damaging 0.90
Posted On2015-04-16