Incidental Mutation 'R4191:Ddx19b'
ID 318315
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 041022-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4191 (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 111737980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 256 (L256Q)
Ref Sequence ENSEMBL: ENSMUSP00000066806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040241] [ENSMUST00000065784]
AlphaFold Q8BZY3
Predicted Effect probably damaging
Transcript: ENSMUST00000040241
AA Change: L241Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658
AA Change: L241Q

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 damaging
Transcript: ENSMUST00000065784
AA Change: L256Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658
AA Change: L256Q

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
Meta Mutation Damage Score 0.8927 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 95% (57/60)
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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,207,728 (GRCm39) T22A probably damaging Het
Ache A T 5: 137,289,334 (GRCm39) I347F probably damaging Het
Adgrl1 C G 8: 84,665,569 (GRCm39) R1464G probably benign Het
Cdh11 T C 8: 103,377,380 (GRCm39) D422G probably damaging Het
Cdx1 C T 18: 61,153,510 (GRCm39) S176N possibly damaging Het
Cimip3 C T 17: 47,747,562 (GRCm39) R61H probably damaging Het
Csmd3 T C 15: 47,710,667 (GRCm39) D1536G probably damaging Het
Cyct G T 2: 76,184,535 (GRCm39) P72Q probably damaging Het
Disp1 G T 1: 182,870,737 (GRCm39) A561E probably damaging Het
Donson C A 16: 91,485,480 (GRCm39) A41S possibly damaging Het
Gldc T C 19: 30,123,058 (GRCm39) E279G probably damaging Het
Gpr160 A T 3: 30,950,863 (GRCm39) I312F possibly damaging Het
H2-Eb2 G A 17: 34,563,529 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,031,433 (GRCm39) Q457R probably benign Het
Irf2bp2 T C 8: 127,320,084 (GRCm39) D31G probably damaging Het
Klrb1 T A 6: 128,690,597 (GRCm39) K42* probably null Het
Lrrfip1 A T 1: 91,038,121 (GRCm39) E446D probably benign Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Maml3 A G 3: 51,597,390 (GRCm39) V1098A probably benign Het
Mrgpra4 T C 7: 47,630,867 (GRCm39) S245G probably benign Het
Mybbp1a A G 11: 72,342,113 (GRCm39) E1283G probably damaging Het
Myh2 A G 11: 67,068,226 (GRCm39) S285G possibly damaging Het
Myh7b A G 2: 155,475,319 (GRCm39) D1876G probably benign Het
Nr4a2 T C 2: 57,002,391 (GRCm39) S21G probably damaging Het
Or10d1c T A 9: 38,894,313 (GRCm39) Q9L probably benign Het
Or2y14 T A 11: 49,404,639 (GRCm39) M58K probably damaging Het
Or7g25 A G 9: 19,160,383 (GRCm39) V104A probably benign Het
Or8c11 T A 9: 38,289,648 (GRCm39) M157K probably damaging Het
Or8k18 C A 2: 86,085,666 (GRCm39) V124L probably benign Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk6 T C 7: 65,675,056 (GRCm39) S476P probably damaging Het
Pex10 T C 4: 155,152,362 (GRCm39) probably null Het
Pgf T C 12: 85,218,561 (GRCm39) D63G probably benign Het
Piwil4 A G 9: 14,626,296 (GRCm39) S465P probably damaging Het
Plcb1 A C 2: 135,187,010 (GRCm39) H759P probably damaging Het
Pmfbp1 A T 8: 110,254,260 (GRCm39) M432L probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Rmnd1 A T 10: 4,360,809 (GRCm39) probably benign Het
Ro60 T C 1: 143,646,524 (GRCm39) I74V probably benign Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Svep1 C T 4: 58,046,601 (GRCm39) C3510Y possibly damaging Het
Tanc1 A G 2: 59,669,357 (GRCm39) I1274V probably damaging Het
Tep1 T C 14: 51,074,263 (GRCm39) E1874G probably damaging Het
Tgfbr2 T C 9: 115,939,009 (GRCm39) T298A probably damaging Het
Tlk1 G A 2: 70,555,891 (GRCm39) R423C probably damaging Het
Trp53rkb T C 2: 166,637,395 (GRCm39) I117T probably damaging Het
Ttll9 A G 2: 152,844,927 (GRCm39) T432A probably benign Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Zfp112 A G 7: 23,825,568 (GRCm39) D512G probably benign Het
Zfyve19 A G 2: 119,041,312 (GRCm39) K76R possibly damaging 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
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'- TGACAGCTGCTGTGCAAATG -3'
(R):5'- TGCCCACTAGATATTATGGTGGC -3'

Sequencing Primer
(F):5'- TGCTGTGCAAATGGCCCAC -3'
(R):5'- GCAGCTTCAGAATGCCTCC -3'
Posted On 2015-06-10