Incidental Mutation 'R7513:Ddx24'
ID 582247
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 045586-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 103374241-103392089 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 103385365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 413 (G413*)
Ref Sequence ENSEMBL: ENSMUSP00000105628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044923] [ENSMUST00000110001] [ENSMUST00000221211]
AlphaFold Q9ESV0
Predicted Effect probably null
Transcript: ENSMUST00000044923
AA Change: G367*
SMART Domains Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: G367*

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 null
Transcript: ENSMUST00000110001
AA Change: G413*
SMART Domains Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: G413*

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 null
Transcript: ENSMUST00000221211
AA Change: G367*
Predicted Effect probably benign
Transcript: ENSMUST00000222782
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,765,771 (GRCm39) W694* probably null Het
Accs T C 2: 93,670,437 (GRCm39) N256S possibly damaging Het
Agmo C T 12: 37,294,352 (GRCm39) T100I probably benign Het
Alox8 T C 11: 69,078,670 (GRCm39) D341G probably benign Het
Apol7c T A 15: 77,409,911 (GRCm39) E345V possibly damaging Het
Arl5a A G 2: 52,302,157 (GRCm39) F86L possibly damaging Het
AU040320 A G 4: 126,686,057 (GRCm39) E211G probably benign Het
B020011L13Rik T A 1: 117,729,149 (GRCm39) C219S probably damaging Het
Btaf1 T A 19: 36,955,803 (GRCm39) L579Q probably benign Het
Cd84 T A 1: 171,712,185 (GRCm39) V267E probably benign Het
Cdcp3 G A 7: 130,873,800 (GRCm39) G1709R unknown Het
Clec11a T C 7: 43,955,780 (GRCm39) E89G probably benign Het
Csrnp2 C A 15: 100,380,297 (GRCm39) E331D probably benign Het
Cyp2d12 C A 15: 82,442,621 (GRCm39) H355N probably benign Het
Dhx38 G A 8: 110,287,221 (GRCm39) P249L probably benign Het
Dip2a A T 10: 76,149,069 (GRCm39) M233K probably benign Het
Dip2b T A 15: 100,105,629 (GRCm39) probably null Het
Dmbt1 T C 7: 130,692,242 (GRCm39) S1003P unknown Het
Dna2 A G 10: 62,807,747 (GRCm39) D1033G probably benign Het
Dnah5 T C 15: 28,370,561 (GRCm39) S2834P probably benign Het
Dnah7b T G 1: 46,163,506 (GRCm39) S437A probably benign Het
Eif5 A T 12: 111,506,686 (GRCm39) I93F probably damaging Het
Fbxo47 A G 11: 97,747,055 (GRCm39) F337S probably damaging Het
Helz T C 11: 107,546,941 (GRCm39) I1086T probably damaging Het
Ifi208 A T 1: 173,523,220 (GRCm39) R497* probably null Het
Igfn1 T G 1: 135,887,705 (GRCm39) D2453A probably damaging Het
Ighg2c A T 12: 113,252,471 (GRCm39) L27Q Het
Jak1 C T 4: 101,048,848 (GRCm39) C10Y probably damaging Het
Kif7 T A 7: 79,360,776 (GRCm39) N200Y possibly damaging Het
Ktn1 G C 14: 47,901,541 (GRCm39) A100P possibly damaging Het
Lrsam1 T C 2: 32,843,497 (GRCm39) D136G probably benign Het
Man2c1 T C 9: 57,046,683 (GRCm39) L648P probably benign Het
Mki67 T C 7: 135,294,952 (GRCm39) I3116V probably benign Het
Mmp10 A T 9: 7,508,128 (GRCm39) D418V probably damaging Het
Mrpl24 A T 3: 87,829,734 (GRCm39) T107S probably benign Het
Mycbpap T A 11: 94,394,382 (GRCm39) D296V probably damaging Het
Mycn C A 12: 12,989,743 (GRCm39) A218S probably benign Het
Myo1f G T 17: 33,794,788 (GRCm39) W9C probably damaging Het
Nckap1 T A 2: 80,332,635 (GRCm39) K1074N possibly damaging Het
Neb T C 2: 52,099,552 (GRCm39) D4766G possibly damaging Het
Nhsl1 T C 10: 18,399,700 (GRCm39) S275P probably damaging Het
Or2d3c A G 7: 106,526,483 (GRCm39) F61S possibly damaging Het
Or5k16 T A 16: 58,736,295 (GRCm39) K236N probably damaging Het
Pam G A 1: 97,780,910 (GRCm39) P514S possibly damaging Het
Pcdha4 C T 18: 37,086,392 (GRCm39) L192F probably damaging Het
Per1 T A 11: 68,996,397 (GRCm39) D800E probably benign Het
Plcg2 C A 8: 118,306,592 (GRCm39) N315K probably damaging Het
Plxnb2 T A 15: 89,042,525 (GRCm39) probably null Het
Pnpla1 A G 17: 29,077,781 (GRCm39) probably benign Het
Pptc7 A T 5: 122,446,192 (GRCm39) probably null Het
Psg26 G T 7: 18,209,225 (GRCm39) S394R probably benign Het
Psmc1 C A 12: 100,081,773 (GRCm39) T125K probably benign Het
Ptgis T A 2: 167,067,203 (GRCm39) M125L probably benign Het
Rbms1 A G 2: 60,589,165 (GRCm39) Y323H probably damaging Het
Rgl2 G A 17: 34,151,529 (GRCm39) R191Q probably benign Het
Sirpb1a G A 3: 15,476,503 (GRCm39) T98I possibly damaging Het
Sirpb1b C A 3: 15,607,200 (GRCm39) E361* probably null Het
Slc13a4 A T 6: 35,260,272 (GRCm39) probably null Het
Spag9 T C 11: 94,002,909 (GRCm39) S1140P probably damaging Het
Spata31e4 T A 13: 50,856,909 (GRCm39) I849N probably benign Het
Tas2r140 A G 6: 40,469,084 (GRCm39) N305D probably damaging Het
Tenm2 G A 11: 35,942,727 (GRCm39) A1314V probably benign Het
Tgm3 A G 2: 129,866,324 (GRCm39) T81A probably benign Het
Timeless T C 10: 128,085,399 (GRCm39) V839A probably damaging Het
Tmem132a A G 19: 10,837,492 (GRCm39) I606T probably damaging Het
Tox T A 4: 6,741,507 (GRCm39) M158L probably benign Het
Trpc2 A T 7: 101,739,275 (GRCm39) M549L probably damaging Het
Trpm5 C T 7: 142,635,572 (GRCm39) R600Q possibly damaging Het
Trpv1 A G 11: 73,131,367 (GRCm39) N302D probably damaging Het
Ttn C T 2: 76,681,940 (GRCm39) R1019H Het
Ttn G T 2: 76,775,307 (GRCm39) H1958N unknown Het
Usp32 A T 11: 84,917,938 (GRCm39) Y769* probably null Het
Vim A T 2: 13,583,443 (GRCm39) Q255L possibly damaging Het
Vmn1r84 T C 7: 12,095,994 (GRCm39) H233R probably benign Het
Xirp2 T A 2: 67,341,108 (GRCm39) H1116Q possibly damaging Het
Zc3h18 G T 8: 123,134,993 (GRCm39) R580L unknown Het
Zfp267 T A 3: 36,218,792 (GRCm39) F272I possibly damaging Het
Zfp442 A T 2: 150,250,676 (GRCm39) C409S unknown Het
Zfy1 A T Y: 759,852 (GRCm39) I20K unknown 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
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
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'- GCATTCAGAGGTCTGCTTAGAAAC -3'
(R):5'- ACTGAATCTGGAGTGTTGCC -3'

Sequencing Primer
(F):5'- CAGAGGTCTGCTTAGAAACATTTAC -3'
(R):5'- CCTGAGGAGGCCAGAATTG -3'
Posted On 2019-10-17