Incidental Mutation 'R3771:Ddx19b'
ID 273277
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 040747-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3771 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 111729820-111758383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111747613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 107 (K107R)
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: K92R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658
AA Change: K92R

DomainStartEndE-ValueType
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: K107R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658
AA Change: K107R

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175346
Meta Mutation Damage Score 0.0757 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 99% (69/70)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat G T 11: 116,487,697 (GRCm39) G132V probably damaging Het
Abcb11 T A 2: 69,159,720 (GRCm39) probably benign Het
Adam26b T A 8: 43,973,751 (GRCm39) D417V probably damaging Het
Ank1 T C 8: 23,613,913 (GRCm39) S1482P probably benign Het
Aoc1l2 T C 6: 48,908,130 (GRCm39) Y377H probably damaging Het
Armc2 C T 10: 41,798,223 (GRCm39) V768M probably damaging Het
Ascc3 C T 10: 50,596,814 (GRCm39) probably benign Het
Birc6 T A 17: 74,925,424 (GRCm39) probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh12 A T 15: 21,578,640 (GRCm39) probably benign Het
Chd1 A G 17: 17,594,913 (GRCm39) D16G probably damaging Het
Clstn2 A G 9: 97,464,615 (GRCm39) I180T probably damaging Het
Cxcr6 A G 9: 123,639,550 (GRCm39) I184V probably benign Het
Dagla G A 19: 10,225,831 (GRCm39) P778S possibly damaging Het
Dpyd G A 3: 119,205,927 (GRCm39) probably null Het
Elf1 T C 14: 79,804,650 (GRCm39) V105A possibly damaging Het
Fam13a T G 6: 58,964,171 (GRCm39) K87T probably benign Het
Fap C A 2: 62,363,354 (GRCm39) S359I probably damaging Het
Fbxo39 T C 11: 72,208,041 (GRCm39) I131T possibly damaging Het
Fmn1 T G 2: 113,412,463 (GRCm39) S996A probably damaging Het
Gm5866 T C 5: 52,740,088 (GRCm39) noncoding transcript Het
Hmcn2 C T 2: 31,250,908 (GRCm39) T790M probably damaging Het
Irf2bp2 T C 8: 127,318,550 (GRCm39) K339E probably damaging Het
Kat6b A G 14: 21,567,166 (GRCm39) D75G probably damaging Het
Kcnab3 A G 11: 69,219,389 (GRCm39) T127A probably damaging Het
Kdm5b G T 1: 134,541,083 (GRCm39) C725F probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Lrrn3 T A 12: 41,502,869 (GRCm39) I483L probably damaging Het
Man2c1 C A 9: 57,047,661 (GRCm39) probably benign Het
Med23 G T 10: 24,778,099 (GRCm39) G810C probably damaging Het
Nhlrc4 T A 17: 26,162,367 (GRCm39) K127* probably null Het
Numb T C 12: 83,846,350 (GRCm39) D344G probably damaging Het
Nup210l T G 3: 90,027,201 (GRCm39) Y194* probably null Het
Ogg1 T C 6: 113,310,804 (GRCm39) V317A possibly damaging Het
Or1o2 T A 17: 37,542,356 (GRCm39) I302F possibly damaging Het
Or6c69c A G 10: 129,911,143 (GRCm39) Y288C probably damaging Het
Pclo A T 5: 14,589,422 (GRCm39) probably null Het
Pnpt1 T C 11: 29,088,174 (GRCm39) M195T probably benign Het
Polr3c T A 3: 96,633,170 (GRCm39) T43S probably damaging Het
Ptprs T C 17: 56,735,978 (GRCm39) T152A possibly damaging Het
Rasl10b A T 11: 83,309,349 (GRCm39) T134S probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf39 T C 17: 37,258,121 (GRCm39) W96R probably damaging Het
Ros1 G T 10: 52,005,087 (GRCm39) A949E probably damaging Het
Rwdd2a A C 9: 86,456,214 (GRCm39) N130T possibly damaging Het
Scn9a T C 2: 66,313,992 (GRCm39) N1909D probably benign Het
Shisal1 A T 15: 84,290,886 (GRCm39) Y120* probably null Het
Ska3 C T 14: 58,047,534 (GRCm39) V334I probably benign Het
Srebf2 A G 15: 82,066,309 (GRCm39) K579R probably benign Het
Sun1 A G 5: 139,224,575 (GRCm39) probably benign Het
Tc2n T A 12: 101,660,833 (GRCm39) Q133L possibly damaging Het
Tecta T C 9: 42,242,292 (GRCm39) T2094A probably damaging Het
Tex2 T C 11: 106,437,720 (GRCm39) D650G unknown Het
Trio A G 15: 27,748,177 (GRCm39) S2492P probably damaging Het
Ttn T C 2: 76,601,711 (GRCm39) T16872A probably benign Het
Ugcg T C 4: 59,189,690 (GRCm39) F16S probably benign Het
Usp16 T C 16: 87,255,571 (GRCm39) M1T probably null Het
Vmn1r60 C A 7: 5,547,710 (GRCm39) C130F possibly damaging Het
Vmn2r101 A G 17: 19,809,919 (GRCm39) D235G probably benign Het
Vpreb3 A T 10: 75,775,800 (GRCm39) V26E probably benign Het
Vps39 C T 2: 120,172,497 (GRCm39) V179I possibly damaging Het
Xrn2 T C 2: 146,903,207 (GRCm39) V765A probably benign Het
Zfp251 A G 15: 76,737,836 (GRCm39) I414T possibly damaging Het
Zfp426 A T 9: 20,384,413 (GRCm39) probably null Het
Zfp61 T C 7: 23,995,406 (GRCm39) M1V probably null 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
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
R5132:Ddx19b UTSW 8 111,749,040 (GRCm39) missense probably benign
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
(F):5'- GGATGTAGCTGAGAACACCTAAC -3'
(R):5'- CCTGGGGTGACATTGAATAGAG -3'

Sequencing Primer
(F):5'- GTTTTTACATAACACTCAAAGCAGC -3'
(R):5'- GTCTCTGTAGATGGCCTCAAAC -3'
Posted On 2015-03-25