Incidental Mutation 'IGL02798:Ddx25'
List |< first << previous [record 10 of 40] next >> last >|
ID360055
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? Possibly non essential (E-score: 0.284) question?
Stock #IGL02798
Quality Score
Status
Chromosome9
Chromosomal Location35536647-35558528 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35551397 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 231 (C231R)
Ref Sequence ENSEMBL: ENSMUSP00000034612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034612]
Predicted Effect probably damaging
Transcript: ENSMUST00000034612
AA Change: C231R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034612
Gene: ENSMUSG00000032101
AA Change: C231R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,040,275 C514S probably damaging Het
Alcam A G 16: 52,305,639 I105T probably damaging Het
Arhgef10l A T 4: 140,565,130 probably null Het
Arhgef17 A G 7: 100,929,626 V705A probably benign Het
C87436 T A 6: 86,446,202 C253S probably benign Het
Cbx7 T C 15: 79,918,399 T226A probably damaging Het
Cdh20 T C 1: 104,947,465 I324T probably damaging Het
Celsr3 A T 9: 108,843,575 H2608L probably damaging Het
Cramp1l A G 17: 24,968,920 probably benign Het
Emilin2 A G 17: 71,256,695 probably benign Het
Fam46a A T 9: 85,324,884 V287E probably damaging Het
Hip1r T C 5: 123,994,712 probably benign Het
Insrr C T 3: 87,810,517 P842S probably damaging Het
Lama1 G T 17: 67,795,191 probably benign Het
Lig3 T C 11: 82,795,705 probably benign Het
Lrp4 C A 2: 91,476,710 T392K probably benign Het
Msl2 G T 9: 101,075,377 R33S probably benign Het
Nrde2 T A 12: 100,143,822 K317* probably null Het
Nub1 C A 5: 24,692,814 A42D probably damaging Het
Obox2 T C 7: 15,396,882 V13A possibly damaging Het
Olfr1341 T C 4: 118,709,499 F31L probably damaging Het
Olfr202 A T 16: 59,284,115 C127* probably null Het
Olfr729 T A 14: 50,148,378 K165N probably benign Het
Phkb T C 8: 86,043,777 Y892H probably benign Het
Ptdss1 A G 13: 66,976,760 Y341C probably damaging Het
Ripor2 A T 13: 24,674,666 D147V probably damaging Het
Scn7a T C 2: 66,713,875 D424G probably benign Het
Scn9a C T 2: 66,540,559 R559Q possibly damaging Het
Sctr G A 1: 120,022,180 C33Y probably damaging Het
Sh2b2 G T 5: 136,221,963 A419E probably damaging Het
Slc22a30 A T 19: 8,370,085 M317K probably damaging Het
Slc39a4 T C 15: 76,615,182 S178G probably benign Het
Slc7a12 T A 3: 14,481,157 C121S probably damaging Het
Slmap T C 14: 26,470,378 S148G possibly damaging Het
Tktl2 A G 8: 66,513,311 K507R probably benign Het
Ttn T G 2: 76,755,863 K21841N probably damaging Het
Ugcg T C 4: 59,220,346 Y380H probably damaging Het
Zfp106 T C 2: 120,510,510 T1840A probably damaging Het
Zmynd8 T C 2: 165,852,150 probably null 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
IGL02440:Ddx25 APN 9 35557678 unclassified probably benign
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 On2015-12-18