Incidental Mutation 'R7295:Ddx28'
ID 566677
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 045363-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R7295 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106736248-106738118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106737476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 194 (S194L)
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 benign
Transcript: ENSMUST00000058579
AA Change: S194L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058950
Gene: ENSMUSG00000045538
AA Change: S194L

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 probably benign
Transcript: ENSMUST00000142898
Predicted Effect probably benign
Transcript: ENSMUST00000227778
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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
a A T 2: 154,887,678 (GRCm39) D46V probably damaging Het
Acp7 A T 7: 28,328,955 (GRCm39) F75Y possibly damaging Het
Adamts19 T A 18: 58,970,955 (GRCm39) Y180N probably damaging Het
Adck1 G T 12: 88,397,815 (GRCm39) D150Y probably damaging Het
Alb T A 5: 90,610,693 (GRCm39) probably null Het
Baat A T 4: 49,490,275 (GRCm39) Y270N probably damaging Het
Bmp7 A T 2: 172,781,690 (GRCm39) I58N probably damaging Het
Bpifb9a C T 2: 154,109,616 (GRCm39) T504M probably damaging Het
Cbfa2t3 T G 8: 123,364,768 (GRCm39) D338A probably benign Het
Ccnd2 A T 6: 127,125,725 (GRCm39) C104S possibly damaging Het
Clip1 G T 5: 123,765,419 (GRCm39) Q713K probably benign Het
Dync1h1 T C 12: 110,631,183 (GRCm39) probably null Het
Edil3 T A 13: 89,279,902 (GRCm39) Y193* probably null Het
Eprs1 A G 1: 185,150,407 (GRCm39) probably null Het
Ercc6l2 T G 13: 63,967,589 (GRCm39) I63R probably damaging Het
Fam171a2 T C 11: 102,329,064 (GRCm39) E565G possibly damaging Het
Fbn1 T A 2: 125,177,407 (GRCm39) D1810V probably damaging Het
Foxj2 T C 6: 122,817,190 (GRCm39) S506P probably benign Het
Frmpd1 A G 4: 45,285,700 (GRCm39) E1507G probably damaging Het
Gfm1 G A 3: 67,347,514 (GRCm39) V258I probably benign Het
Gphn T C 12: 78,538,876 (GRCm39) V174A probably benign Het
Gtpbp3 C A 8: 71,942,139 (GRCm39) S123R possibly damaging Het
H2bc8 T C 13: 23,755,943 (GRCm39) S113P probably benign Het
Hbs1l T C 10: 21,186,051 (GRCm39) V491A probably benign Het
Hoxc12 A G 15: 102,846,810 (GRCm39) N234S probably damaging Het
Il22b A T 10: 118,130,848 (GRCm39) L16* probably null Het
Kcnj5 T C 9: 32,234,087 (GRCm39) D76G probably damaging Het
Klhl11 A G 11: 100,363,068 (GRCm39) Y163H probably damaging Het
Lonp1 G T 17: 56,929,495 (GRCm39) Q181K possibly damaging Het
Mgst1 A T 6: 138,124,754 (GRCm39) I23F probably benign Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Myocos T C 1: 162,484,687 (GRCm39) R41G unknown Het
Myod1 A G 7: 46,027,643 (GRCm39) D261G probably benign Het
Nop14 C T 5: 34,796,376 (GRCm39) R781Q probably damaging Het
Nsmaf A G 4: 6,438,083 (GRCm39) V63A probably benign Het
Ntsr1 A T 2: 180,142,725 (GRCm39) H172L probably damaging Het
Or4k6 T C 14: 50,476,073 (GRCm39) K90E probably damaging Het
Or8b1c A T 9: 38,384,739 (GRCm39) E232V probably benign Het
Pcdha11 T C 18: 37,139,979 (GRCm39) V536A probably damaging Het
Pcdha6 T A 18: 37,101,189 (GRCm39) N127K probably damaging Het
Prps1l1 T A 12: 35,035,679 (GRCm39) C265S probably benign Het
Prune2 A G 19: 17,097,261 (GRCm39) S922G probably benign Het
Qpctl A T 7: 18,883,055 (GRCm39) M19K probably benign Het
Rad51 C T 2: 118,964,599 (GRCm39) T230I possibly damaging Het
Rad9b A G 5: 122,472,341 (GRCm39) F246L possibly damaging Het
Rarb A T 14: 16,508,932 (GRCm38) probably null Het
Sdcbp2 T C 2: 151,429,321 (GRCm39) S214P possibly damaging Het
Slc22a1 T A 17: 12,875,892 (GRCm39) M441L probably benign Het
Slc35f1 G A 10: 52,938,637 (GRCm39) V190I probably benign Het
Spon1 A T 7: 113,629,475 (GRCm39) Q373L possibly damaging Het
Ssbp2 T A 13: 91,842,122 (GRCm39) probably null Het
Sult1e1 T A 5: 87,726,512 (GRCm39) R201* probably null Het
Traj32 T A 14: 54,423,606 (GRCm39) L16Q Het
Ttc16 T C 2: 32,664,437 (GRCm39) I67V probably null Het
Ttn T A 2: 76,556,899 (GRCm39) K30035N probably damaging Het
Ttn T A 2: 76,776,473 (GRCm39) Y1607F unknown Het
Usp16 G A 16: 87,268,977 (GRCm39) R290H probably benign Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Xpnpep3 A G 15: 81,298,735 (GRCm39) H56R probably damaging Het
Zfp592 G T 7: 80,674,070 (GRCm39) D345Y probably damaging Het
Zfp931 A T 2: 177,709,824 (GRCm39) Y187* 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
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
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
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'- ACAGCTGAAGTTTGAGCCTACTC -3'
(R):5'- TCTCCATAGAGCGAGTGCAG -3'

Sequencing Primer
(F):5'- AGCCTACTCATCCCGAGG -3'
(R):5'- TGGACCTGGGTCTGGAAC -3'
Posted On 2019-06-26