Incidental Mutation 'R1909:Ddx24'
ID 210199
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 039928-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1909 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103374241-103392089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103376241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 752 (I752V)
Ref Sequence ENSEMBL: ENSMUSP00000152206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021620] [ENSMUST00000044923] [ENSMUST00000056140] [ENSMUST00000101094] [ENSMUST00000110001] [ENSMUST00000179684] [ENSMUST00000221211]
AlphaFold Q9ESV0
Predicted Effect probably benign
Transcript: ENSMUST00000021620
SMART Domains Protein: ENSMUSP00000021620
Gene: ENSMUSG00000021203

DomainStartEndE-ValueType
Pfam:Peptidase_C65 1 230 2.9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044923
AA Change: I752V

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: I752V

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 benign
Transcript: ENSMUST00000056140
Predicted Effect probably benign
Transcript: ENSMUST00000101094
SMART Domains Protein: ENSMUSP00000098655
Gene: ENSMUSG00000021203

DomainStartEndE-ValueType
Pfam:Peptidase_C65 90 319 4.4e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110001
AA Change: I798V

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: I798V

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: ENSMUST00000141055
Predicted Effect probably benign
Transcript: ENSMUST00000179684
SMART Domains Protein: ENSMUSP00000137162
Gene: ENSMUSG00000021203

DomainStartEndE-ValueType
Pfam:Peptidase_C65 90 319 1.8e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220481
Predicted Effect probably damaging
Transcript: ENSMUST00000221211
AA Change: I752V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect unknown
Transcript: ENSMUST00000222782
AA Change: I133V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222715
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.1%
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 A C 11: 101,301,057 (GRCm39) probably null Het
Abcc5 A G 16: 20,195,259 (GRCm39) probably null Het
Abcc6 T C 7: 45,669,558 (GRCm39) probably null Het
Adam15 C A 3: 89,252,637 (GRCm39) M317I probably benign Het
Ago3 T C 4: 126,240,530 (GRCm39) T111A probably damaging Het
Amz1 G T 5: 140,738,216 (GRCm39) S492I probably benign Het
Arid1a T C 4: 133,421,072 (GRCm39) N911S unknown Het
Ascl2 C A 7: 142,521,900 (GRCm39) A115S probably damaging Het
Ash1l T C 3: 88,891,835 (GRCm39) V1238A probably benign Het
Asxl2 G T 12: 3,524,577 (GRCm39) V202F probably damaging Het
Atp10a A T 7: 58,478,460 (GRCm39) Q1501L probably benign Het
Avpr1a A T 10: 122,288,113 (GRCm39) I374L probably benign Het
Bmal2 A T 6: 146,712,308 (GRCm39) E111V probably benign Het
Bmx T C X: 163,022,411 (GRCm39) H157R probably benign Het
Camk4 T A 18: 33,291,869 (GRCm39) probably null Het
Ccdc103 G A 11: 102,773,392 (GRCm39) D5N probably benign Het
Ccdc186 A T 19: 56,781,793 (GRCm39) N70K probably damaging Het
Cebpz A T 17: 79,242,336 (GRCm39) Y439* probably null Het
Cfap206 A C 4: 34,722,714 (GRCm39) S122R probably benign Het
Cnst T C 1: 179,450,356 (GRCm39) S607P probably damaging Het
Col8a2 C A 4: 126,205,926 (GRCm39) D645E possibly damaging Het
Cpsf4l A T 11: 113,594,204 (GRCm39) probably null Het
Crim1 C T 17: 78,620,556 (GRCm39) T332I probably benign Het
Csmd1 A T 8: 15,956,116 (GRCm39) Y3364N probably damaging Het
D5Ertd579e A T 5: 36,771,402 (GRCm39) S998T probably benign Het
Dab2ip C G 2: 35,608,827 (GRCm39) A587G probably damaging Het
Dach1 C T 14: 98,138,829 (GRCm39) G486D probably damaging Het
Dennd2b G A 7: 109,124,533 (GRCm39) Q686* probably null Het
Dhx33 A G 11: 70,879,933 (GRCm39) V359A probably benign Het
Dip2c A T 13: 9,583,386 (GRCm39) T123S probably benign Het
Dync1h1 G A 12: 110,629,063 (GRCm39) E4207K probably damaging Het
Eef1b2 G T 1: 63,216,431 (GRCm39) D21Y probably damaging Het
Eif3b T C 5: 140,418,692 (GRCm39) S462P probably damaging Het
Elmod2 G C 8: 84,042,998 (GRCm39) R277G probably benign Het
Epg5 T A 18: 78,002,247 (GRCm39) D555E probably benign Het
Ercc8 A T 13: 108,312,100 (GRCm39) K172* probably null Het
Fat3 T C 9: 15,909,411 (GRCm39) N2197S probably benign Het
Fbf1 A G 11: 116,036,818 (GRCm39) V972A possibly damaging Het
Fcgbpl1 T C 7: 27,843,773 (GRCm39) V887A possibly damaging Het
Fes T C 7: 80,036,609 (GRCm39) R113G probably damaging Het
Fzd1 G T 5: 4,807,481 (GRCm39) H34N probably benign Het
Galnt17 T A 5: 131,140,676 (GRCm39) Y147F probably benign Het
Garre1 T A 7: 33,957,461 (GRCm39) I59L probably benign Het
Gdf6 T C 4: 9,859,971 (GRCm39) L351P probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm2381 A T 7: 42,469,352 (GRCm39) H257Q probably damaging Het
Hivep1 A T 13: 42,309,122 (GRCm39) K454M probably benign Het
Hmmr T A 11: 40,598,925 (GRCm39) E566D probably damaging Het
Hydin T G 8: 111,314,404 (GRCm39) V4296G probably damaging Het
Il18r1 T A 1: 40,514,074 (GRCm39) D93E probably damaging Het
Iqgap1 T C 7: 80,393,576 (GRCm39) D667G probably benign Het
Lama3 T C 18: 12,714,855 (GRCm39) I3278T probably benign Het
Lrp4 T A 2: 91,328,753 (GRCm39) V1551D possibly damaging Het
Mdn1 CGGAGGAGGAGGAGGAG CGGAGGAGGAGGAG 4: 32,760,839 (GRCm39) probably benign Het
Mga T A 2: 119,757,075 (GRCm39) H1018Q possibly damaging Het
Ncoa7 A T 10: 30,565,796 (GRCm39) M666K probably damaging Het
Ndnf T G 6: 65,680,297 (GRCm39) V192G possibly damaging Het
Nr4a1 T A 15: 101,172,108 (GRCm39) I594N probably damaging Het
Or13a27 T C 7: 139,925,378 (GRCm39) I175V probably benign Het
Or2ag16 T C 7: 106,352,202 (GRCm39) N131S probably benign Het
Or4k44 T A 2: 111,368,359 (GRCm39) I92F probably damaging Het
Or51q1 G A 7: 103,628,997 (GRCm39) W199* probably null Het
Or52z13 A G 7: 103,246,550 (GRCm39) N9S probably benign Het
Paxbp1 T C 16: 90,841,193 (GRCm39) probably benign Het
Pcdhb8 A G 18: 37,489,015 (GRCm39) E231G possibly damaging Het
Pcsk5 A T 19: 17,410,825 (GRCm39) Y1856N probably benign Het
Pde3a T C 6: 141,195,965 (GRCm39) V217A probably benign Het
Phf11 A T 14: 59,496,062 (GRCm39) S17R probably benign Het
Pira13 A T 7: 3,825,918 (GRCm39) I317N probably benign Het
Pirb A T 7: 3,717,587 (GRCm39) D674E probably benign Het
Pnisr T A 4: 21,869,517 (GRCm39) M335K possibly damaging Het
Pnpla7 T A 2: 24,887,300 (GRCm39) M48K possibly damaging Het
Pomgnt2 A T 9: 121,811,257 (GRCm39) I508N possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prkca A T 11: 107,830,438 (GRCm39) D217E possibly damaging Het
Rac3 A C 11: 120,614,163 (GRCm39) I142L probably benign Het
Ralgapb G T 2: 158,286,595 (GRCm39) A347S probably damaging Het
Rbm43 G C 2: 51,815,446 (GRCm39) S258R possibly damaging Het
Rnf182 T A 13: 43,821,899 (GRCm39) V150E probably benign Het
Rsph10b T C 5: 143,922,309 (GRCm39) F409L probably benign Het
Ryr2 A T 13: 11,715,235 (GRCm39) L2778M probably damaging Het
Scn1a T C 2: 66,161,696 (GRCm39) N284S possibly damaging Het
Scyl2 A T 10: 89,476,767 (GRCm39) M786K probably benign Het
Sema4g C A 19: 44,986,061 (GRCm39) R301S probably damaging Het
Senp6 A T 9: 80,021,056 (GRCm39) E245D possibly damaging Het
Setx T C 2: 29,053,021 (GRCm39) V2095A possibly damaging Het
Slc13a2 A T 11: 78,290,968 (GRCm39) M412K possibly damaging Het
Slc25a4 T C 8: 46,662,437 (GRCm39) N74D probably damaging Het
Slc28a1 T A 7: 80,791,783 (GRCm39) F316L probably damaging Het
Slfn8 G A 11: 82,894,447 (GRCm39) Q731* probably null Het
Slitrk4 A G X: 63,316,229 (GRCm39) I146T probably damaging Het
Smg1 A G 7: 117,753,422 (GRCm39) probably benign Het
Smg8 G T 11: 86,971,439 (GRCm39) Y777* probably null Het
Smyd1 T A 6: 71,216,563 (GRCm39) K61N probably benign Het
Sod2 T C 17: 13,234,056 (GRCm39) *223R probably null Het
Sp6 G T 11: 96,912,334 (GRCm39) A16S probably benign Het
Spata31d1a A C 13: 59,850,509 (GRCm39) Y540D probably damaging Het
Spatc1l A G 10: 76,399,751 (GRCm39) D91G probably damaging Het
Spg7 A G 8: 123,807,480 (GRCm39) T419A probably benign Het
St8sia4 A G 1: 95,555,298 (GRCm39) I244T probably damaging Het
Tbl2 C T 5: 135,181,845 (GRCm39) R27W probably damaging Het
Tmed4 G A 11: 6,224,694 (GRCm39) P47L probably damaging Het
Tmsb10b T C 7: 24,561,731 (GRCm39) I10T possibly damaging Het
Tmtc1 T C 6: 148,345,546 (GRCm39) D51G possibly damaging Het
Ttc28 T C 5: 111,431,920 (GRCm39) probably null Het
Unc13d A G 11: 115,961,121 (GRCm39) F412S probably damaging Het
Unc45b A C 11: 82,816,913 (GRCm39) K451T probably damaging Het
Vmn2r16 A G 5: 109,511,853 (GRCm39) M687V probably benign Het
Vmn2r68 T A 7: 84,883,260 (GRCm39) H164L probably benign Het
Vps51 A G 19: 6,119,499 (GRCm39) V625A probably benign Het
Wapl T A 14: 34,413,869 (GRCm39) W244R probably damaging Het
Wdr75 C T 1: 45,862,563 (GRCm39) T794I 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
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
Predicted Primers PCR Primer
(F):5'- ATCTGGCCCATACAGAAGCAG -3'
(R):5'- GGCAAGGGTTTCAGTAGAATCTG -3'

Sequencing Primer
(F):5'- TACAGAAGCAGCAGCCATAG -3'
(R):5'- CAAGGGTTTCAGTAGAATCTGCATTG -3'
Posted On 2014-06-30