Incidental Mutation 'R6311:Ddx24'
ID 509782
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 044469-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6311 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 103374241-103392089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103390166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 275 (R275L)
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: R229L

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: R229L

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: R275L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: R275L

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 benign
Transcript: ENSMUST00000220975
Predicted Effect probably benign
Transcript: ENSMUST00000221211
AA Change: R229L

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000223233
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (39/39)
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
Adcy2 A G 13: 68,773,911 (GRCm39) I1044T probably damaging Het
Arhgef4 T G 1: 34,763,062 (GRCm39) F773V unknown Het
B4galnt4 A G 7: 140,648,572 (GRCm39) N696S probably damaging Het
Cdh16 T A 8: 105,341,065 (GRCm39) D786V probably benign Het
Cdh8 T C 8: 100,127,527 (GRCm39) Y28C probably damaging Het
Cgn C T 3: 94,685,486 (GRCm39) probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Chst10 A G 1: 38,907,128 (GRCm39) V174A probably damaging Het
Clca4a T A 3: 144,672,174 (GRCm39) N256I probably damaging Het
Cntnap5a G A 1: 116,339,836 (GRCm39) W698* probably null Het
Dnmt3b G T 2: 153,515,925 (GRCm39) G444V probably damaging Het
Ermn A G 2: 57,941,771 (GRCm39) F109S probably damaging Het
Fam227a C T 15: 79,524,895 (GRCm39) A190T probably benign Het
Fstl4 T C 11: 53,067,804 (GRCm39) W556R probably damaging Het
Fut2 T A 7: 45,299,804 (GRCm39) I323F possibly damaging Het
Grik2 T G 10: 49,454,234 (GRCm39) K94Q probably damaging Het
Hsd3b5 T C 3: 98,537,406 (GRCm39) R37G possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Kmt2c A G 5: 25,648,816 (GRCm39) probably null Het
Lrriq1 A T 10: 103,009,254 (GRCm39) D1076E probably benign Het
Mical2 T A 7: 111,922,765 (GRCm39) I590N probably damaging Het
Mycbp2 A G 14: 103,500,176 (GRCm39) L940P possibly damaging Het
Nr6a1 T C 2: 38,629,083 (GRCm39) I257V possibly damaging Het
Or5b100-ps1 T A 19: 12,993,935 (GRCm39) M116K probably damaging Het
Or6c216 A G 10: 129,678,776 (GRCm39) L45P possibly damaging Het
Pcdhb17 A T 18: 37,619,316 (GRCm39) probably null Het
Pdcl3 A G 1: 39,026,925 (GRCm39) M1V probably null Het
Pdzd2 T A 15: 12,458,274 (GRCm39) E196D probably damaging Het
Pgm1 T C 4: 99,827,237 (GRCm39) F379S possibly damaging Het
Pgm2 G A 5: 64,273,758 (GRCm39) C581Y probably benign Het
Plbd1 T A 6: 136,590,945 (GRCm39) H407L probably benign Het
Prdm12 A G 2: 31,544,321 (GRCm39) Y308C probably benign Het
Prdm15 T C 16: 97,600,255 (GRCm39) E893G probably null Het
Slc34a1 A G 13: 23,999,005 (GRCm39) T133A probably benign Het
Slc9a8 T A 2: 167,293,140 (GRCm39) S163T probably damaging Het
Sult2a3 T C 7: 13,845,482 (GRCm39) I126V probably benign Het
Tlr1 C T 5: 65,084,188 (GRCm39) D130N probably damaging Het
Ugt3a1 A T 15: 9,361,604 (GRCm39) K127* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S 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
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'- AGAGCTGGATGTTTGCAACAC -3'
(R):5'- CCAGGCTGCTCCAAGAAAGAAG -3'

Sequencing Primer
(F):5'- AACACATGGCTTTTGTGGTCAC -3'
(R):5'- ATTGGATACTTTTCAGAGCACTTCC -3'
Posted On 2018-04-02