Incidental Mutation 'R5132:Ddx19b'
ID 395875
Institutional Source Beutler Lab
Gene Symbol Ddx19b
Ensembl Gene ENSMUSG00000033658
Gene Name DEAD box helicase 19b
Synonyms 4921519L13Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 19b, 2810457M08Rik
MMRRC Submission 042720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5132 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 111729820-111758383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111749040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 66 (D66E)
Ref Sequence ENSEMBL: ENSMUSP00000066806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040241] [ENSMUST00000065784]
AlphaFold Q8BZY3
Predicted Effect probably benign
Transcript: ENSMUST00000040241
AA Change: D51E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658
AA Change: D51E

Blast:DEXDc 5 44 1e-12 BLAST
low complexity region 45 55 N/A INTRINSIC
Blast:DEXDc 57 99 4e-11 BLAST
DEXDc 111 310 2.94e-42 SMART
HELICc 347 434 2.59e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065784
AA Change: D66E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658
AA Change: D66E

low complexity region 12 25 N/A INTRINSIC
low complexity region 60 70 N/A INTRINSIC
Blast:DEXDc 72 114 5e-11 BLAST
DEXDc 126 325 2.94e-42 SMART
HELICc 362 449 2.59e-29 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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 exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A T 1: 156,469,402 (GRCm39) K785* probably null Het
Acad11 A T 9: 104,003,791 (GRCm39) I628L probably benign Het
Ago1 T C 4: 126,355,516 (GRCm39) I98V probably benign Het
Bach2 A G 4: 32,563,396 (GRCm39) probably benign Het
Calr3 C T 8: 73,185,212 (GRCm39) probably null Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdc42ep3 C T 17: 79,642,803 (GRCm39) R39H probably damaging Het
Cyp2j5 T C 4: 96,517,733 (GRCm39) Y493C probably damaging Het
Drosha A G 15: 12,837,377 (GRCm39) D287G unknown Het
Gm8888 A G 15: 96,664,892 (GRCm39) noncoding transcript Het
Gpr25 G T 1: 136,188,103 (GRCm39) A170E probably damaging Het
Gria1 A G 11: 57,180,225 (GRCm39) Y656C probably damaging Het
Grik5 C T 7: 24,764,629 (GRCm39) V145I probably benign Het
Htt T C 5: 35,063,023 (GRCm39) V2885A possibly damaging Het
Larp6 A G 9: 60,644,493 (GRCm39) E211G probably damaging Het
Magi1 C A 6: 93,660,072 (GRCm39) probably null Het
Mtbp A G 15: 55,421,965 (GRCm39) S63G possibly damaging Het
Ndor1 A T 2: 25,137,781 (GRCm39) S513T probably benign Het
Nsd3 A G 8: 26,168,855 (GRCm39) D670G possibly damaging Het
Or10ag56 A T 2: 87,139,282 (GRCm39) M50L probably damaging Het
Or4k49 T A 2: 111,495,344 (GRCm39) Y258N probably damaging Het
Or5e1 T C 7: 108,354,477 (GRCm39) V138A probably damaging Het
Pcdh7 T C 5: 57,885,463 (GRCm39) V1061A probably benign Het
Pdia4 A G 6: 47,773,669 (GRCm39) I560T probably benign Het
Pomt2 A G 12: 87,157,121 (GRCm39) F733L probably damaging Het
Pprc1 T C 19: 46,061,121 (GRCm39) probably benign Het
Prkca T C 11: 108,082,943 (GRCm39) probably benign Het
Pspc1 A T 14: 56,960,707 (GRCm39) S473T probably benign Het
Rgs12 A G 5: 35,147,156 (GRCm39) probably benign Het
Scn3a C T 2: 65,298,548 (GRCm39) V1384I probably benign Het
Serpinb6a C T 13: 34,102,305 (GRCm39) D307N probably benign Het
Smap2 T C 4: 120,830,370 (GRCm39) E255G possibly damaging Het
Spmip6 A G 4: 41,517,178 (GRCm39) probably benign Het
St7 A T 6: 17,854,956 (GRCm39) I298F probably damaging Het
Tgm7 A G 2: 120,934,700 (GRCm39) F93L probably damaging Het
Timm23 A T 14: 31,915,902 (GRCm39) D56E probably damaging Het
Tmem170 A T 8: 112,596,357 (GRCm39) M56K probably benign Het
Other mutations in Ddx19b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Ddx19b APN 8 111,747,620 (GRCm39) missense probably damaging 1.00
IGL02089:Ddx19b APN 8 111,735,477 (GRCm39) splice site probably benign
IGL02445:Ddx19b APN 8 111,735,456 (GRCm39) missense probably damaging 1.00
IGL02756:Ddx19b APN 8 111,737,910 (GRCm39) splice site probably benign
R0411:Ddx19b UTSW 8 111,750,596 (GRCm39) critical splice donor site probably null
R0483:Ddx19b UTSW 8 111,735,310 (GRCm39) missense probably benign 0.07
R1510:Ddx19b UTSW 8 111,742,285 (GRCm39) missense probably damaging 1.00
R1797:Ddx19b UTSW 8 111,739,439 (GRCm39) missense probably damaging 1.00
R1969:Ddx19b UTSW 8 111,734,890 (GRCm39) missense probably benign 0.00
R1981:Ddx19b UTSW 8 111,735,975 (GRCm39) missense possibly damaging 0.88
R1982:Ddx19b UTSW 8 111,735,975 (GRCm39) missense possibly damaging 0.88
R3771:Ddx19b UTSW 8 111,747,613 (GRCm39) missense probably benign 0.03
R4190:Ddx19b UTSW 8 111,737,980 (GRCm39) missense probably damaging 1.00
R4191:Ddx19b UTSW 8 111,737,980 (GRCm39) missense probably damaging 1.00
R4193:Ddx19b UTSW 8 111,737,980 (GRCm39) missense probably damaging 1.00
R5435:Ddx19b UTSW 8 111,735,458 (GRCm39) missense possibly damaging 0.67
R7980:Ddx19b UTSW 8 111,738,077 (GRCm39) missense possibly damaging 0.83
R8062:Ddx19b UTSW 8 111,747,611 (GRCm39) missense probably benign 0.00
R8265:Ddx19b UTSW 8 111,735,824 (GRCm39) missense probably damaging 1.00
R8899:Ddx19b UTSW 8 111,737,929 (GRCm39) missense probably damaging 1.00
R9136:Ddx19b UTSW 8 111,734,906 (GRCm39) missense probably benign
R9598:Ddx19b UTSW 8 111,747,673 (GRCm39) missense probably benign
Z1088:Ddx19b UTSW 8 111,742,207 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-21