Incidental Mutation 'R7299:Ddx24'
ID 566882
Institutional Source Beutler Lab
Gene Symbol Ddx24
Ensembl Gene ENSMUSG00000041645
Gene Name DEAD box helicase 24
Synonyms 2510027P10Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24, 1700055J08Rik
MMRRC Submission 045403-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7299 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 103374241-103392089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103385709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 298 (M298T)
Ref Sequence ENSEMBL: ENSMUSP00000105628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044923] [ENSMUST00000110001] [ENSMUST00000220975] [ENSMUST00000221211] [ENSMUST00000223233]
AlphaFold Q9ESV0
Predicted Effect possibly damaging
Transcript: ENSMUST00000044923
AA Change: M252T

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: M252T

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 possibly damaging
Transcript: ENSMUST00000110001
AA Change: M298T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: M298T

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 probably benign
Transcript: ENSMUST00000220975
Predicted Effect possibly damaging
Transcript: ENSMUST00000221211
AA Change: M252T

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000222782
Predicted Effect probably benign
Transcript: ENSMUST00000223233
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 99% (71/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,473,095 (GRCm39) K83N unknown Het
Abca13 A T 11: 9,244,649 (GRCm39) N2171Y probably damaging Het
Abcc8 G A 7: 45,754,922 (GRCm39) T1532I possibly damaging Het
Abtb2 A T 2: 103,532,769 (GRCm39) probably null Het
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Agk A T 6: 40,306,451 (GRCm39) T7S possibly damaging Het
Akap9 C A 5: 4,082,696 (GRCm39) T1940K probably damaging Het
Ccdc8 A G 7: 16,729,956 (GRCm39) T482A unknown Het
Cd2ap G A 17: 43,140,904 (GRCm39) R212* probably null Het
Cenpt G A 8: 106,576,536 (GRCm39) Q45* probably null Het
Cnga1 T C 5: 72,762,775 (GRCm39) I246M probably benign Het
Cnot7 A G 8: 40,960,586 (GRCm39) I74T probably damaging Het
Cog6 T C 3: 52,909,928 (GRCm39) S275G probably benign Het
Csmd2 C A 4: 128,422,055 (GRCm39) D2797E Het
Eif2b3 T A 4: 116,910,019 (GRCm39) S185T probably benign Het
Ergic2 T A 6: 148,089,610 (GRCm39) Y249F probably damaging Het
Exoc1 T A 5: 76,690,006 (GRCm39) M182K probably damaging Het
Fhdc1 T C 3: 84,351,847 (GRCm39) E1126G probably damaging Het
Gabrr2 T A 4: 33,095,284 (GRCm39) M391K probably benign Het
Gap43 T C 16: 42,112,615 (GRCm39) K49E probably damaging Het
Gata4 T A 14: 63,441,191 (GRCm39) T276S probably damaging Het
Gca C T 2: 62,520,320 (GRCm39) P160L probably benign Het
Ghdc C T 11: 100,658,942 (GRCm39) V397I possibly damaging Het
Gm3409 T A 5: 146,476,357 (GRCm39) D169E probably benign Het
Gtf3c3 G A 1: 54,456,867 (GRCm39) P511L probably benign Het
Hal T C 10: 93,328,423 (GRCm39) V233A probably benign Het
Ighv1-4 T C 12: 114,450,908 (GRCm39) I67V probably benign Het
Itgb8 T C 12: 119,166,196 (GRCm39) N112D probably benign Het
Klhl38 G A 15: 58,186,376 (GRCm39) R118W probably damaging Het
Krtap26-1 T C 16: 88,444,132 (GRCm39) Y163C possibly damaging Het
Kyat1 T C 2: 30,082,007 (GRCm39) D44G probably benign Het
Mob1a G A 6: 83,315,431 (GRCm39) probably null Het
Mst1r G T 9: 107,791,989 (GRCm39) A842S possibly damaging Het
Nhsl1 A G 10: 18,403,419 (GRCm39) probably null Het
Nos1 A T 5: 118,005,970 (GRCm39) D230V possibly damaging Het
Nppb T C 4: 148,070,780 (GRCm39) S52P probably benign Het
Odad2 T C 18: 7,222,635 (GRCm39) K545E probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or1s2 G A 19: 13,758,688 (GRCm39) W235* probably null Het
Pcdha3 G A 18: 37,079,977 (GRCm39) E240K possibly damaging Het
Podxl G T 6: 31,501,371 (GRCm39) P395T probably damaging Het
Prr5l T A 2: 101,547,631 (GRCm39) D298V probably damaging Het
Ptpro G A 6: 137,418,142 (GRCm39) probably null Het
Rad9b A G 5: 122,490,677 (GRCm39) V13A possibly damaging Het
Ralgps1 T C 2: 33,047,885 (GRCm39) K365R probably benign Het
Reep1 A T 6: 71,738,373 (GRCm39) I44L probably benign Het
Ripor2 T C 13: 24,908,984 (GRCm39) I1034T possibly damaging Het
Rtn4ip1 T C 10: 43,812,016 (GRCm39) Y338H probably damaging Het
Shisa5 G T 9: 108,883,952 (GRCm39) probably benign Het
Snx24 G T 18: 53,473,244 (GRCm39) V63F probably damaging Het
Svep1 G A 4: 58,046,587 (GRCm39) Q3515* probably null Het
Tfap2a T C 13: 40,874,784 (GRCm39) K276E probably damaging Het
Tmem158 C A 9: 123,089,366 (GRCm39) S82I probably damaging Het
Tmem263 T A 10: 84,950,261 (GRCm39) probably null Het
Tmtc3 G T 10: 100,283,336 (GRCm39) H740N not run Het
Tnrc6a A C 7: 122,770,136 (GRCm39) N642T probably benign Het
Top3a A T 11: 60,638,974 (GRCm39) F559I probably damaging Het
Trak1 A G 9: 121,280,929 (GRCm39) probably null Het
Trpc4 T C 3: 54,225,048 (GRCm39) I799T possibly damaging Het
Ttc7 T C 17: 87,653,970 (GRCm39) I549T possibly damaging Het
Tysnd1 C A 10: 61,532,328 (GRCm39) P327T possibly damaging Het
Ulk4 T A 9: 120,974,125 (GRCm39) D969V probably benign Het
Vcan T A 13: 89,853,385 (GRCm39) Y525F probably benign Het
Vmn1r204 G A 13: 22,740,975 (GRCm39) S202N probably damaging Het
Vmn2r107 A G 17: 20,565,878 (GRCm39) I64M probably benign Het
Wrn A G 8: 33,782,746 (GRCm39) F728S probably damaging Het
Zfp280b C G 10: 75,874,537 (GRCm39) Q139E probably damaging Het
Zfp322a C A 13: 23,541,313 (GRCm39) G143V probably damaging Het
Zfp322a C T 13: 23,541,314 (GRCm39) G143S probably benign Het
Zfp418 T A 7: 7,185,827 (GRCm39) C597S possibly damaging Het
Zfp568 A G 7: 29,716,669 (GRCm39) T190A probably benign Het
Zfyve26 A T 12: 79,329,758 (GRCm39) V476D probably benign 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
IGL02225:Ddx24 APN 12 103,383,630 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGCACTAGTCTCAGGTGTG -3'
(R):5'- TTCCTTGATAGCCAGGTGC -3'

Sequencing Primer
(F):5'- CACTGGGCTGTGCTTCAGTC -3'
(R):5'- GCGCTGGAGGAACCTGTG -3'
Posted On 2019-06-26