Incidental Mutation 'R9685:Ddx28'
ID 728800
Institutional Source Beutler Lab
Gene Symbol Ddx28
Ensembl Gene ENSMUSG00000045538
Gene Name DEAD (Asp-Glu-Ala-Asp) box polypeptide 28
Synonyms 2410004K13Rik, Mddx28
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R9685 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106009621-106011882 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106010101 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 442 (S442G)
Ref Sequence ENSEMBL: ENSMUSP00000058950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034375] [ENSMUST00000058579] [ENSMUST00000119736] [ENSMUST00000142898] [ENSMUST00000227778]
AlphaFold Q9CWT6
Predicted Effect probably benign
Transcript: ENSMUST00000034375
SMART Domains Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901

Pfam:Dus 15 344 1.8e-54 PFAM
DSRM 370 435 1.03e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000058579
AA Change: S442G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000058950
Gene: ENSMUSG00000045538
AA Change: S442G

low complexity region 8 18 N/A INTRINSIC
low complexity region 42 58 N/A INTRINSIC
DEXDc 147 365 1.64e-40 SMART
HELICc 411 492 6.89e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119736
SMART Domains Protein: ENSMUSP00000113781
Gene: ENSMUSG00000031901

Pfam:Dus 1 233 8.1e-38 PFAM
DSRM 257 322 1.03e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142898
Predicted Effect probably benign
Transcript: ENSMUST00000227778
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik G T 16: 64,766,460 N300K possibly damaging Het
A130010J15Rik G A 1: 193,174,757 R139H probably benign Het
Aanat A C 11: 116,596,855 T127P possibly damaging Het
Acp4 G A 7: 44,257,309 probably benign Het
Arhgef5 T G 6: 43,273,593 I426S probably benign Het
Bcl2a1a T C 9: 88,957,132 S28P probably benign Het
Cd163 T C 6: 124,311,425 S272P possibly damaging Het
Cdk13 C A 13: 17,803,957 R232L unknown Het
Clrn2 A G 5: 45,453,989 D60G possibly damaging Het
Cnot6l A G 5: 96,082,890 L406P probably damaging Het
Cspg4 T G 9: 56,890,338 V1362G probably benign Het
Cspp1 C T 1: 10,126,414 S939L probably benign Het
Dcaf1 C T 9: 106,836,619 T145I probably benign Het
Dnajc3 A T 14: 118,972,363 R283S probably benign Het
Dsc1 G A 18: 20,099,030 T307I possibly damaging Het
Elovl5 T C 9: 77,961,009 Y68H probably damaging Het
Fam25c G A 14: 34,355,309 T17I probably damaging Het
Fryl T C 5: 73,059,536 E2137G probably damaging Het
Gm10142 A G 10: 77,715,928 Q41R unknown Het
Gm21671 AACT A 5: 25,950,851 probably benign Het
Grm1 T C 10: 10,689,031 T1178A possibly damaging Het
Hhip A T 8: 79,996,734 H430Q probably damaging Het
Hip1 A G 5: 135,449,822 F178L probably damaging Het
Impa1 T A 3: 10,328,370 I58L probably benign Het
Irak4 T A 15: 94,553,931 V135E probably benign Het
Jup A C 11: 100,383,411 L151R probably damaging Het
Lrrn4cl T A 19: 8,852,055 N132K probably damaging Het
Mapkbp1 C A 2: 120,021,183 R863S probably benign Het
Olfr1008 T C 2: 85,689,522 F31S probably damaging Het
Pramef17 T A 4: 143,992,950 M282L probably benign Het
Rasa4 A G 5: 136,095,529 D144G probably benign Het
Rrs1 T A 1: 9,546,165 S214R probably benign Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,579,932 probably benign Het
Rtca T A 3: 116,499,576 R195S probably benign Het
Scaper A T 9: 55,864,551 S360R probably benign Het
Scarb1 A T 5: 125,294,130 F293I possibly damaging Het
Snapc1 T C 12: 73,970,341 probably null Het
Spta1 T C 1: 174,205,359 V994A probably damaging Het
Synpo2 T C 3: 123,117,717 E93G probably damaging Het
Ubr4 A G 4: 139,464,030 T985A unknown Het
Vmn1r18 T C 6: 57,390,478 I30M possibly damaging Het
Vmn2r15 A G 5: 109,292,732 V420A probably benign Het
Vmn2r6 A G 3: 64,556,660 V251A probably benign Het
Zfyve16 A T 13: 92,522,803 I200N possibly damaging Het
Other mutations in Ddx28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Ddx28 APN 8 106010580 missense probably damaging 0.97
R0166:Ddx28 UTSW 8 106010289 missense probably benign 0.00
R0329:Ddx28 UTSW 8 106010245 missense probably benign 0.00
R0362:Ddx28 UTSW 8 106011294 missense probably damaging 0.99
R0464:Ddx28 UTSW 8 106010053 missense probably damaging 1.00
R1267:Ddx28 UTSW 8 106009917 missense probably damaging 1.00
R1686:Ddx28 UTSW 8 106010558 missense probably damaging 1.00
R1748:Ddx28 UTSW 8 106010682 missense probably benign 0.01
R2201:Ddx28 UTSW 8 106010574 missense probably damaging 1.00
R4005:Ddx28 UTSW 8 106010928 missense possibly damaging 0.80
R6456:Ddx28 UTSW 8 106010368 missense possibly damaging 0.94
R6601:Ddx28 UTSW 8 106010616 splice site probably null
R7295:Ddx28 UTSW 8 106010844 missense probably benign
R7320:Ddx28 UTSW 8 106011325 missense probably damaging 0.96
R7690:Ddx28 UTSW 8 106010331 missense probably damaging 1.00
R8427:Ddx28 UTSW 8 106010280 missense probably benign 0.16
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-10-06