Incidental Mutation 'IGL03339:Ddx25'
ID 417135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx25
Ensembl Gene ENSMUSG00000032101
Gene Name DEAD box helicase 25
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 25, GRTH
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # IGL03339
Quality Score
Status
Chromosome 9
Chromosomal Location 35453144-35469766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35453299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 484 (Y484N)
Ref Sequence ENSEMBL: ENSMUSP00000034612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034612]
AlphaFold Q9QY15
Predicted Effect probably damaging
Transcript: ENSMUST00000034612
AA Change: Y484N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034612
Gene: ENSMUSG00000032101
AA Change: Y484N

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging Het
Other mutations in Ddx25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ddx25 APN 9 35,454,891 (GRCm39) splice site probably benign
IGL00951:Ddx25 APN 9 35,464,131 (GRCm39) critical splice donor site probably null
IGL02237:Ddx25 APN 9 35,453,365 (GRCm39) splice site probably benign
IGL02270:Ddx25 APN 9 35,465,708 (GRCm39) splice site probably benign
IGL02273:Ddx25 APN 9 35,458,122 (GRCm39) missense possibly damaging 0.95
IGL02325:Ddx25 APN 9 35,465,804 (GRCm39) unclassified probably benign
IGL02422:Ddx25 APN 9 35,462,660 (GRCm39) missense probably null 1.00
IGL02440:Ddx25 APN 9 35,468,974 (GRCm39) unclassified probably benign
IGL02798:Ddx25 APN 9 35,462,693 (GRCm39) missense probably damaging 1.00
R0633:Ddx25 UTSW 9 35,457,268 (GRCm39) missense probably damaging 0.99
R0893:Ddx25 UTSW 9 35,465,686 (GRCm39) nonsense probably null
R1171:Ddx25 UTSW 9 35,458,142 (GRCm39) nonsense probably null
R1448:Ddx25 UTSW 9 35,469,034 (GRCm39) missense probably benign
R1453:Ddx25 UTSW 9 35,453,298 (GRCm39) missense probably damaging 1.00
R1582:Ddx25 UTSW 9 35,457,272 (GRCm39) missense probably damaging 0.97
R3055:Ddx25 UTSW 9 35,462,647 (GRCm39) missense probably damaging 1.00
R5960:Ddx25 UTSW 9 35,465,807 (GRCm39) splice site probably null
R7425:Ddx25 UTSW 9 35,465,882 (GRCm39) missense probably benign 0.08
R7535:Ddx25 UTSW 9 35,454,951 (GRCm39) missense possibly damaging 0.89
R7610:Ddx25 UTSW 9 35,465,893 (GRCm39) missense possibly damaging 0.90
R8758:Ddx25 UTSW 9 35,453,300 (GRCm39) missense probably benign
R8931:Ddx25 UTSW 9 35,465,864 (GRCm39) missense possibly damaging 0.85
R8984:Ddx25 UTSW 9 35,468,685 (GRCm39) missense probably benign
R9103:Ddx25 UTSW 9 35,458,085 (GRCm39) missense probably benign 0.24
R9585:Ddx25 UTSW 9 35,455,009 (GRCm39) nonsense probably null
R9759:Ddx25 UTSW 9 35,457,265 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02