Incidental Mutation 'IGL02756:Ddx19b'
ID306470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx19b
Ensembl Gene ENSMUSG00000033658
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 19b
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL02756
Quality Score
Status
Chromosome8
Chromosomal Location111003188-111031751 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 111011278 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040241] [ENSMUST00000065784]
Predicted Effect probably benign
Transcript: ENSMUST00000040241
SMART Domains Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658

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
SMART Domains Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,165,108 D54V probably damaging Het
Adamts18 C A 8: 113,714,344 probably benign Het
Angptl3 T A 4: 99,031,162 L53Q probably damaging Het
Apc A G 18: 34,314,535 T1461A probably damaging Het
Arl11 T A 14: 61,311,086 V115D probably damaging Het
Cabp4 C A 19: 4,138,561 V173L possibly damaging Het
Casq1 T A 1: 172,215,105 D230V probably damaging Het
Cdc42bpa A G 1: 180,109,259 I821V possibly damaging Het
Cfap65 T C 1: 74,905,080 Y1494C probably benign Het
Chd1 T A 17: 15,730,807 S215T probably damaging Het
Csf2rb2 T C 15: 78,284,849 E593G possibly damaging Het
Cstf1 A G 2: 172,375,875 D136G probably damaging Het
Dido1 A T 2: 180,661,923 L1396Q probably benign Het
Ermn A G 2: 58,047,812 I263T probably damaging Het
F12 T A 13: 55,421,067 Q294L possibly damaging Het
Far2 A T 6: 148,157,391 I192F probably damaging Het
Fshb T A 2: 107,058,873 I29F probably damaging Het
Gcgr T A 11: 120,536,985 Y251N probably benign Het
Gpr158 A G 2: 21,827,079 I997V possibly damaging Het
Gprc5d A G 6: 135,116,615 V98A probably damaging Het
H2-T23 T C 17: 36,031,688 E186G probably damaging Het
Khdrbs3 C T 15: 69,024,836 T115I probably benign Het
Kifap3 C T 1: 163,862,028 T527M probably damaging Het
Mfsd2a C T 4: 122,948,539 A512T probably benign Het
Mmp9 A G 2: 164,949,315 D135G probably benign Het
Mylk T C 16: 34,963,646 V1394A probably benign Het
Nek9 A C 12: 85,311,336 probably null Het
Olfr1008 T C 2: 85,690,058 S210P probably damaging Het
Olfr638 T C 7: 104,003,659 I128T probably damaging Het
P2rx2 T A 5: 110,342,410 probably benign Het
P4htm A G 9: 108,579,778 L410P probably damaging Het
Pik3c2a A T 7: 116,364,513 W921R probably benign Het
Pnisr T C 4: 21,862,175 F288L probably benign Het
Ppp4r3a C T 12: 101,058,323 probably null Het
Prss34 T C 17: 25,299,277 S144P probably damaging Het
Qrsl1 T C 10: 43,882,114 T328A probably benign Het
Rab33b A T 3: 51,484,524 T65S probably damaging Het
Rdh8 A G 9: 20,825,341 S235G possibly damaging Het
Rrp12 T C 19: 41,896,061 K6R probably benign Het
Sec24a T C 11: 51,696,733 D1025G probably benign Het
Sgo2a T G 1: 58,016,350 N564K probably damaging Het
Slc43a3 A T 2: 84,944,268 M130L probably benign Het
Soat1 T C 1: 156,446,575 I89V probably benign Het
St3gal5 A G 6: 72,149,173 D307G probably null Het
Stxbp3-ps C T 19: 9,557,829 noncoding transcript Het
Tacr2 A G 10: 62,261,690 probably benign Het
Tg C T 15: 66,734,586 T193I probably benign Het
Tnik A G 3: 28,542,030 T191A probably damaging Het
Trim27 T C 13: 21,190,086 probably benign Het
Usf2 A T 7: 30,946,992 C134* probably null Het
Usp14 A G 18: 10,001,769 probably null Het
Usp47 T C 7: 112,093,063 S911P possibly damaging Het
Vmn1r73 T A 7: 11,756,647 S131T possibly damaging Het
Vmn2r80 T C 10: 79,194,311 I657T probably damaging Het
Zfp935 A T 13: 62,454,887 C166* probably null Het
Other mutations in Ddx19b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Ddx19b APN 8 111020988 missense probably damaging 1.00
IGL02089:Ddx19b APN 8 111008845 splice site probably benign
IGL02445:Ddx19b APN 8 111008824 missense probably damaging 1.00
R0411:Ddx19b UTSW 8 111023964 critical splice donor site probably null
R0483:Ddx19b UTSW 8 111008678 missense probably benign 0.07
R1510:Ddx19b UTSW 8 111015653 missense probably damaging 1.00
R1797:Ddx19b UTSW 8 111012807 missense probably damaging 1.00
R1969:Ddx19b UTSW 8 111008258 missense probably benign 0.00
R1981:Ddx19b UTSW 8 111009343 missense possibly damaging 0.88
R1982:Ddx19b UTSW 8 111009343 missense possibly damaging 0.88
R3771:Ddx19b UTSW 8 111020981 missense probably benign 0.03
R4190:Ddx19b UTSW 8 111011348 missense probably damaging 1.00
R4191:Ddx19b UTSW 8 111011348 missense probably damaging 1.00
R4193:Ddx19b UTSW 8 111011348 missense probably damaging 1.00
R5132:Ddx19b UTSW 8 111022408 missense probably benign
R5435:Ddx19b UTSW 8 111008826 missense possibly damaging 0.67
Z1088:Ddx19b UTSW 8 111015575 missense probably benign 0.37
Posted On2015-04-16