Incidental Mutation 'IGL02225:Ddx24'
ID 285323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx24
Ensembl Gene ENSMUSG00000041645
Gene Name DEAD box helicase 24
Synonyms 2510027P10Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24, 1700055J08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02225
Quality Score
Status
Chromosome 12
Chromosomal Location 103374241-103392089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103383630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 607 (L607P)
Ref Sequence ENSEMBL: ENSMUSP00000152206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044923] [ENSMUST00000110001] [ENSMUST00000221211]
AlphaFold Q9ESV0
Predicted Effect probably damaging
Transcript: ENSMUST00000044923
AA Change: L607P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: L607P

DomainStartEndE-ValueType
low complexity region 94 101 N/A INTRINSIC
low complexity region 105 114 N/A INTRINSIC
low complexity region 154 162 N/A INTRINSIC
low complexity region 168 180 N/A INTRINSIC
DEXDc 212 541 1.14e-39 SMART
HELICc 601 682 5.22e-25 SMART
low complexity region 752 766 N/A INTRINSIC
low complexity region 775 787 N/A INTRINSIC
low complexity region 835 852 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110001
AA Change: L653P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: L653P

DomainStartEndE-ValueType
low complexity region 140 147 N/A INTRINSIC
low complexity region 151 160 N/A INTRINSIC
low complexity region 200 208 N/A INTRINSIC
low complexity region 214 226 N/A INTRINSIC
DEXDc 258 587 1.14e-39 SMART
HELICc 647 728 5.22e-25 SMART
low complexity region 798 812 N/A INTRINSIC
low complexity region 821 833 N/A INTRINSIC
low complexity region 881 898 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220705
Predicted Effect probably damaging
Transcript: ENSMUST00000221211
AA Change: L607P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221358
Predicted Effect probably benign
Transcript: ENSMUST00000222782
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 shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout is embryonic lethal: embryos die between implantation and placentation. Heterozygous KO animals are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 43,906,165 (GRCm39) probably null Het
Adgrf4 C A 17: 42,974,269 (GRCm39) probably null Het
Aqp9 A T 9: 71,037,829 (GRCm39) probably benign Het
C1s1 A G 6: 124,518,293 (GRCm39) W8R probably benign Het
Cep43 T G 17: 8,401,251 (GRCm39) D257E probably damaging Het
Cfap43 A G 19: 47,800,616 (GRCm39) I345T probably benign Het
Cwh43 T C 5: 73,578,910 (GRCm39) Y306H probably damaging Het
Cyp4a32 A T 4: 115,467,700 (GRCm39) H228L probably benign Het
Dlg3 A G X: 99,850,794 (GRCm39) K232R probably benign Het
Fig4 A G 10: 41,132,448 (GRCm39) S453P probably benign Het
Frem1 A G 4: 82,858,743 (GRCm39) L1556P probably damaging Het
Gjb2 T C 14: 57,337,645 (GRCm39) K188E probably damaging Het
Gp1bb C A 16: 18,439,650 (GRCm39) W148L possibly damaging Het
Grip1 C T 10: 119,885,358 (GRCm39) T375M probably damaging Het
Hnf1b T C 11: 83,752,611 (GRCm39) L82P probably damaging Het
Jakmip1 T C 5: 37,262,200 (GRCm39) V333A probably damaging Het
Magi1 G T 6: 93,671,007 (GRCm39) R1069S probably damaging Het
Myh15 A T 16: 48,911,526 (GRCm39) E319D probably benign Het
Myl4 A G 11: 104,471,228 (GRCm39) I42V probably benign Het
Obsl1 A T 1: 75,480,442 (GRCm39) V394E probably damaging Het
Or1e1c T A 11: 73,265,904 (GRCm39) F110I probably damaging Het
Or52ab7 A T 7: 102,978,373 (GRCm39) I227F probably damaging Het
Or5w14 C T 2: 87,541,743 (GRCm39) C169Y possibly damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pkd1l3 T C 8: 110,365,310 (GRCm39) Y1144H probably damaging Het
Pogz A G 3: 94,786,327 (GRCm39) K972E probably damaging Het
Sccpdh A G 1: 179,507,264 (GRCm39) T227A probably benign Het
Sec16b A G 1: 157,359,614 (GRCm39) probably benign Het
Slain2 T A 5: 73,098,733 (GRCm39) V163E probably damaging Het
Snx1 G A 9: 66,016,903 (GRCm39) P56L probably benign Het
Snx14 G A 9: 88,295,577 (GRCm39) T196I probably damaging Het
Sspo T C 6: 48,461,268 (GRCm39) F3570L probably benign Het
Tbrg4 C A 11: 6,574,094 (GRCm39) V43F probably damaging Het
Traf3ip3 A G 1: 192,877,408 (GRCm39) I176T probably benign Het
Trbv20 T A 6: 41,165,241 (GRCm39) probably benign Het
Ubc A T 5: 125,463,197 (GRCm39) V710D probably benign Het
Ugt2b35 T C 5: 87,155,264 (GRCm39) probably benign Het
Zbed5 C T 5: 129,930,974 (GRCm39) probably null Het
Zc3hav1 T C 6: 38,317,276 (GRCm39) Y108C probably damaging Het
Other mutations in Ddx24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Ddx24 APN 12 103,384,461 (GRCm39) missense probably damaging 0.97
IGL02102:Ddx24 APN 12 103,374,743 (GRCm39) intron probably benign
IGL02226:Ddx24 APN 12 103,390,717 (GRCm39) missense possibly damaging 0.81
IGL02325:Ddx24 APN 12 103,382,525 (GRCm39) missense probably damaging 1.00
IGL02568:Ddx24 APN 12 103,383,571 (GRCm39) missense probably damaging 1.00
IGL02666:Ddx24 APN 12 103,390,314 (GRCm39) missense possibly damaging 0.94
IGL02950:Ddx24 APN 12 103,383,801 (GRCm39) missense probably damaging 1.00
IGL03244:Ddx24 APN 12 103,383,864 (GRCm39) missense possibly damaging 0.53
P0028:Ddx24 UTSW 12 103,374,634 (GRCm39) missense probably benign
R0195:Ddx24 UTSW 12 103,385,220 (GRCm39) critical splice donor site probably null
R0540:Ddx24 UTSW 12 103,385,326 (GRCm39) missense possibly damaging 0.92
R0607:Ddx24 UTSW 12 103,385,326 (GRCm39) missense possibly damaging 0.92
R0621:Ddx24 UTSW 12 103,391,817 (GRCm39) intron probably benign
R0964:Ddx24 UTSW 12 103,390,166 (GRCm39) missense probably damaging 1.00
R1447:Ddx24 UTSW 12 103,390,566 (GRCm39) missense possibly damaging 0.88
R1639:Ddx24 UTSW 12 103,377,578 (GRCm39) critical splice acceptor site probably null
R1909:Ddx24 UTSW 12 103,376,241 (GRCm39) missense probably damaging 0.99
R2418:Ddx24 UTSW 12 103,383,996 (GRCm39) missense probably damaging 1.00
R3706:Ddx24 UTSW 12 103,383,675 (GRCm39) missense probably damaging 1.00
R3725:Ddx24 UTSW 12 103,383,864 (GRCm39) missense probably benign 0.19
R4436:Ddx24 UTSW 12 103,390,233 (GRCm39) missense probably damaging 1.00
R4807:Ddx24 UTSW 12 103,385,720 (GRCm39) missense probably damaging 1.00
R5568:Ddx24 UTSW 12 103,390,547 (GRCm39) missense possibly damaging 0.46
R5629:Ddx24 UTSW 12 103,391,806 (GRCm39) intron probably benign
R5763:Ddx24 UTSW 12 103,383,673 (GRCm39) missense probably damaging 1.00
R5891:Ddx24 UTSW 12 103,390,317 (GRCm39) missense probably damaging 1.00
R6059:Ddx24 UTSW 12 103,374,559 (GRCm39) missense probably damaging 1.00
R6310:Ddx24 UTSW 12 103,390,166 (GRCm39) missense probably damaging 1.00
R6311:Ddx24 UTSW 12 103,390,166 (GRCm39) missense probably damaging 1.00
R6408:Ddx24 UTSW 12 103,391,819 (GRCm39) intron probably benign
R6648:Ddx24 UTSW 12 103,374,634 (GRCm39) missense probably benign 0.02
R7151:Ddx24 UTSW 12 103,390,347 (GRCm39) missense probably benign 0.00
R7299:Ddx24 UTSW 12 103,385,709 (GRCm39) missense possibly damaging 0.95
R7301:Ddx24 UTSW 12 103,385,709 (GRCm39) missense possibly damaging 0.95
R7324:Ddx24 UTSW 12 103,382,518 (GRCm39) missense probably damaging 1.00
R7513:Ddx24 UTSW 12 103,385,365 (GRCm39) nonsense probably null
R7602:Ddx24 UTSW 12 103,382,519 (GRCm39) nonsense probably null
R7734:Ddx24 UTSW 12 103,383,819 (GRCm39) missense possibly damaging 0.49
R8076:Ddx24 UTSW 12 103,382,477 (GRCm39) missense probably damaging 1.00
R8466:Ddx24 UTSW 12 103,376,160 (GRCm39) missense probably benign 0.01
R8914:Ddx24 UTSW 12 103,390,665 (GRCm39) missense possibly damaging 0.86
R9484:Ddx24 UTSW 12 103,377,555 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16