Incidental Mutation 'IGL02445:Ddx19b'
ID 293562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx19b
Ensembl Gene ENSMUSG00000033658
Gene Name DEAD box helicase 19b
Synonyms 4921519L13Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 19b, 2810457M08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02445
Quality Score
Status
Chromosome 8
Chromosomal Location 111729820-111758383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 111735456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 402 (V402L)
Ref Sequence ENSEMBL: ENSMUSP00000038551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040241] [ENSMUST00000065784]
AlphaFold Q8BZY3
Predicted Effect probably damaging
Transcript: ENSMUST00000040241
AA Change: V402L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658
AA Change: V402L

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: V417L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658
AA Change: V417L

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
Coding Region Coverage
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,383,198 (GRCm39) T2127M probably damaging Het
Acp2 A G 2: 91,036,606 (GRCm39) D175G possibly damaging Het
Adamts12 T C 15: 11,286,798 (GRCm39) L801P probably damaging Het
Adcy10 T G 1: 165,398,313 (GRCm39) V1470G possibly damaging Het
Ankar T G 1: 72,705,524 (GRCm39) K829Q probably benign Het
Arhgef10l T C 4: 140,274,318 (GRCm39) Y531C probably benign Het
Atm T C 9: 53,365,630 (GRCm39) I2590V probably benign Het
Brme1 T A 8: 84,886,137 (GRCm39) M31K probably benign Het
Cblb T C 16: 51,986,668 (GRCm39) L485P probably damaging Het
Col4a1 T C 8: 11,283,911 (GRCm39) probably benign Het
Coprs T C 8: 13,935,797 (GRCm39) K74R possibly damaging Het
Cul3 A T 1: 80,281,886 (GRCm39) L31M possibly damaging Het
Cyp3a59 C A 5: 146,033,463 (GRCm39) Q200K probably benign Het
Disc1 T A 8: 125,875,142 (GRCm39) probably benign Het
Dsg4 C T 18: 20,579,307 (GRCm39) probably benign Het
Dspp A C 5: 104,324,963 (GRCm39) Y442S probably damaging Het
Dtl C T 1: 191,290,172 (GRCm39) probably null Het
Ezh1 A C 11: 101,101,513 (GRCm39) V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 (GRCm39) G100D probably damaging Het
Herc1 T A 9: 66,340,764 (GRCm39) H1704Q possibly damaging Het
Itprid2 G A 2: 79,487,842 (GRCm39) E642K probably damaging Het
Kif26a T C 12: 112,140,177 (GRCm39) S469P probably damaging Het
Lefty1 T C 1: 180,765,242 (GRCm39) M270T probably benign Het
Nap1l3 A T X: 121,305,752 (GRCm39) V322D probably damaging Het
Ndufv2 A G 17: 66,387,889 (GRCm39) probably benign Het
Or14j5 A T 17: 38,162,008 (GRCm39) H175L probably damaging Het
Or4p18 G A 2: 88,232,456 (GRCm39) T274I possibly damaging Het
Or8b55 T C 9: 38,726,901 (GRCm39) I34T possibly damaging Het
Otol1 A T 3: 69,935,367 (GRCm39) D453V probably damaging Het
Papolb G A 5: 142,514,480 (GRCm39) H388Y probably benign Het
Ppp1r10 A G 17: 36,237,094 (GRCm39) E128G probably damaging Het
Prss12 T A 3: 123,280,669 (GRCm39) D451E probably damaging Het
Psmc1 T C 12: 100,081,087 (GRCm39) probably benign Het
Pygo1 T A 9: 72,833,222 (GRCm39) I10N probably benign Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Ret G A 6: 118,158,860 (GRCm39) T184I probably damaging Het
Rhd A T 4: 134,611,481 (GRCm39) M214L possibly damaging Het
Ripor3 C A 2: 167,834,682 (GRCm39) probably benign Het
Sec16a A G 2: 26,312,052 (GRCm39) L2036P probably benign Het
Slc26a3 C A 12: 31,507,051 (GRCm39) D335E possibly damaging Het
Taf6 A G 5: 138,182,756 (GRCm39) probably benign Het
Tnk2 T C 16: 32,494,408 (GRCm39) V442A probably benign Het
Virma A G 4: 11,527,029 (GRCm39) M1143V probably damaging Het
Vmn2r77 A T 7: 86,452,848 (GRCm39) R522* probably null Het
Vmn2r-ps129 A G 17: 23,227,393 (GRCm39) noncoding transcript Het
Zfp473 A G 7: 44,383,107 (GRCm39) C408R probably 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
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
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
Posted On 2015-04-16