Incidental Mutation 'R2201:Ddx28'
ID 238667
Institutional Source Beutler Lab
Gene Symbol Ddx28
Ensembl Gene ENSMUSG00000045538
Gene Name DEAD box helicase 28
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 28, 2410004K13Rik, Mddx28
MMRRC Submission 040203-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R2201 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106736248-106738118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106737206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 284 (V284A)
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

DomainStartEndE-ValueType
Pfam:Dus 15 344 1.8e-54 PFAM
DSRM 370 435 1.03e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000058579
AA Change: V284A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058950
Gene: ENSMUSG00000045538
AA Change: V284A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Dus 1 233 8.1e-38 PFAM
DSRM 257 322 1.03e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141374
Predicted Effect probably benign
Transcript: ENSMUST00000142898
Predicted Effect probably benign
Transcript: ENSMUST00000227778
Meta Mutation Damage Score 0.6584 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,524,268 (GRCm39) N1121K probably null Het
Actr10 A G 12: 71,006,795 (GRCm39) N351D probably damaging Het
Adcy7 G A 8: 89,044,606 (GRCm39) A500T probably damaging Het
Ankrd35 T C 3: 96,586,564 (GRCm39) I80T possibly damaging Het
Arap2 G A 5: 62,864,028 (GRCm39) T532I probably damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cc2d2a T C 5: 43,841,375 (GRCm39) probably benign Het
Cep85l A T 10: 53,224,827 (GRCm39) M254K probably benign Het
Clic4 A G 4: 134,950,850 (GRCm39) S114P probably damaging Het
Ctsj T C 13: 61,150,363 (GRCm39) Y213C probably damaging Het
Dnase2b T A 3: 146,290,443 (GRCm39) D176V probably damaging Het
Dsg2 T A 18: 20,729,111 (GRCm39) N663K probably damaging Het
Dst T A 1: 34,235,002 (GRCm39) S3694T possibly damaging Het
Emilin1 T C 5: 31,073,036 (GRCm39) S158P probably benign Het
Eng T C 2: 32,563,752 (GRCm39) probably benign Het
Entrep2 T A 7: 64,409,141 (GRCm39) M418L probably benign Het
Fdxr C A 11: 115,161,208 (GRCm39) V223L probably benign Het
Fhip1b T C 7: 105,037,398 (GRCm39) N395S probably damaging Het
Frem2 T A 3: 53,423,994 (GRCm39) M3148L probably benign Het
Hip1 A T 5: 135,460,584 (GRCm39) D114E probably benign Het
Itga9 T C 9: 118,706,183 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,437,179 (GRCm39) N487K probably damaging Het
Krt6a A G 15: 101,601,606 (GRCm39) F172L probably benign Het
Megf8 C T 7: 25,040,170 (GRCm39) R1034W probably damaging Het
Muc6 C T 7: 141,236,075 (GRCm39) D451N probably damaging Het
Myo5a A G 9: 75,125,225 (GRCm39) T1838A possibly damaging Het
N4bp2l2 A T 5: 150,585,073 (GRCm39) D302E probably damaging Het
Nbeal2 T A 9: 110,459,318 (GRCm39) I1930F probably benign Het
Nhsl3 A G 4: 129,116,432 (GRCm39) V732A probably benign Het
Npas4 A T 19: 5,037,392 (GRCm39) Y301N probably benign Het
Nt5m A G 11: 59,766,741 (GRCm39) K211E probably benign Het
Pfn4 A G 12: 4,824,382 (GRCm39) probably null Het
Pfpl A C 19: 12,407,843 (GRCm39) D698A probably benign Het
Pias1 G T 9: 62,859,137 (GRCm39) H124N possibly damaging Het
Pja2 A T 17: 64,618,162 (GRCm39) probably benign Het
Polr3e T C 7: 120,531,465 (GRCm39) Y185H probably benign Het
Pomc T C 12: 4,010,275 (GRCm39) L172S probably benign Het
Rapgef4 A G 2: 71,875,533 (GRCm39) T129A probably damaging Het
Reep1 T C 6: 71,750,278 (GRCm39) S97P probably damaging Het
Rttn T A 18: 89,029,067 (GRCm39) I595N possibly damaging Het
Sap30 T C 8: 57,938,506 (GRCm39) probably null Het
Slc1a7 T C 4: 107,850,203 (GRCm39) Y105H probably damaging Het
Slc5a5 C T 8: 71,345,102 (GRCm39) M68I probably damaging Het
Stab2 T A 10: 86,776,503 (GRCm39) Y791F probably benign Het
Tdrd1 C A 19: 56,847,094 (GRCm39) H912N probably benign Het
Tdrd1 C A 19: 56,847,093 (GRCm39) S911R probably benign Het
Tgm7 A T 2: 120,929,062 (GRCm39) F278Y probably damaging Het
Tln2 T C 9: 67,283,039 (GRCm39) T310A probably damaging Het
Tmem256 T C 11: 69,730,271 (GRCm39) I93T probably benign Het
Trpm2 G A 10: 77,756,305 (GRCm39) Q1172* probably null Het
Ttll8 A G 15: 88,818,156 (GRCm39) V173A possibly damaging Het
Ubr5 T C 15: 38,002,543 (GRCm39) S1497G possibly damaging Het
Ubr7 G A 12: 102,727,764 (GRCm39) probably null Het
Vmn1r37 T A 6: 66,708,878 (GRCm39) M1K probably null Het
Vmn2r14 A G 5: 109,366,698 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,444 (GRCm39) I707V probably benign Het
Vps8 A G 16: 21,395,507 (GRCm39) R1266G probably damaging Het
Wdr87-ps T A 7: 29,235,950 (GRCm39) noncoding transcript Het
Zfhx4 A G 3: 5,307,349 (GRCm39) N192D probably damaging Het
Zfp638 G C 6: 83,906,500 (GRCm39) D222H probably damaging Het
Zscan29 A C 2: 120,999,883 (GRCm39) V106G probably damaging Het
Other mutations in Ddx28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Ddx28 APN 8 106,737,212 (GRCm39) missense probably damaging 0.97
R0166:Ddx28 UTSW 8 106,736,921 (GRCm39) missense probably benign 0.00
R0329:Ddx28 UTSW 8 106,736,877 (GRCm39) missense probably benign 0.00
R0362:Ddx28 UTSW 8 106,737,926 (GRCm39) missense probably damaging 0.99
R0464:Ddx28 UTSW 8 106,736,685 (GRCm39) missense probably damaging 1.00
R1267:Ddx28 UTSW 8 106,736,549 (GRCm39) missense probably damaging 1.00
R1686:Ddx28 UTSW 8 106,737,190 (GRCm39) missense probably damaging 1.00
R1748:Ddx28 UTSW 8 106,737,314 (GRCm39) missense probably benign 0.01
R4005:Ddx28 UTSW 8 106,737,560 (GRCm39) missense possibly damaging 0.80
R6456:Ddx28 UTSW 8 106,737,000 (GRCm39) missense possibly damaging 0.94
R6601:Ddx28 UTSW 8 106,737,248 (GRCm39) splice site probably null
R7295:Ddx28 UTSW 8 106,737,476 (GRCm39) missense probably benign
R7320:Ddx28 UTSW 8 106,737,957 (GRCm39) missense probably damaging 0.96
R7690:Ddx28 UTSW 8 106,736,963 (GRCm39) missense probably damaging 1.00
R8427:Ddx28 UTSW 8 106,736,912 (GRCm39) missense probably benign 0.16
R9685:Ddx28 UTSW 8 106,736,733 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTGGTGACTTTACTCAGTAACTG -3'
(R):5'- AGAACTAGCCGAACAGGTGC -3'

Sequencing Primer
(F):5'- ACTCAGTAACTGGTTTAGGCC -3'
(R):5'- CAGTCACTGGGTGGGTACTTG -3'
Posted On 2014-10-02