Incidental Mutation 'R1267:Ddx28'
ID 151189
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 039334-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R1267 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106736248-106738118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106736549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 503 (V503A)
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: V503A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058950
Gene: ENSMUSG00000045538
AA Change: V503A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b G A 1: 36,739,185 (GRCm39) S368F probably benign Het
Asb4 T A 6: 5,423,747 (GRCm39) V298E probably damaging Het
Dock1 T C 7: 134,348,165 (GRCm39) Y259H probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Nrbp1 A G 5: 31,407,934 (GRCm39) K459R probably benign Het
Pramel21 G A 4: 143,342,304 (GRCm39) G137E possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sntg2 G A 12: 30,295,127 (GRCm39) T280M probably benign Het
Stat5b C T 11: 100,689,419 (GRCm39) V227M probably benign Het
Taf4 A G 2: 179,571,117 (GRCm39) I732T possibly damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Thsd7b T A 1: 129,556,577 (GRCm39) probably null 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
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
R2201:Ddx28 UTSW 8 106,737,206 (GRCm39) missense probably damaging 1.00
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'- CCTGCTCTAGCACTAGATTCAAGCC -3'
(R):5'- TATTCTGCAACAGCGCCAGCAC -3'

Sequencing Primer
(F):5'- TAGATTCAAGCCAACCAAAAATCAGG -3'
(R):5'- ATCTTCCAGAGTTTCCAGAAGGG -3'
Posted On 2014-01-29