Incidental Mutation 'IGL02445:Ddx19b'
ID293562
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? Non essential (E-score: 0.000) question?
Stock #IGL02445
Quality Score
Status
Chromosome8
Chromosomal Location111003188-111031751 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 111008824 bp
ZygosityHeterozygous
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]
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
4930432K21Rik T A 8: 84,159,508 M31K probably benign Het
Acacb C T 5: 114,245,137 T2127M probably damaging Het
Acp2 A G 2: 91,206,261 D175G possibly damaging Het
Adamts12 T C 15: 11,286,712 L801P probably damaging Het
Adcy10 T G 1: 165,570,744 V1470G possibly damaging Het
Ankar T G 1: 72,666,365 K829Q probably benign Het
Arhgef10l T C 4: 140,547,007 Y531C probably benign Het
Atm T C 9: 53,454,330 I2590V probably benign Het
Cblb T C 16: 52,166,305 L485P probably damaging Het
Col4a1 T C 8: 11,233,911 probably benign Het
Coprs T C 8: 13,885,797 K74R possibly damaging Het
Cul3 A T 1: 80,304,169 L31M possibly damaging Het
Cyp3a59 C A 5: 146,096,653 Q200K probably benign Het
Disc1 T A 8: 125,148,403 probably benign Het
Dsg4 C T 18: 20,446,250 probably benign Het
Dspp A C 5: 104,177,097 Y442S probably damaging Het
Dtl C T 1: 191,558,060 probably null Het
Ezh1 A C 11: 101,210,687 V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 G100D probably damaging Het
Herc1 T A 9: 66,433,482 H1704Q possibly damaging Het
Kif26a T C 12: 112,173,743 S469P probably damaging Het
Lefty1 T C 1: 180,937,677 M270T probably benign Het
Nap1l3 A T X: 122,396,055 V322D probably damaging Het
Ndufv2 A G 17: 66,080,894 probably benign Het
Olfr1179 G A 2: 88,402,112 T274I possibly damaging Het
Olfr126 A T 17: 37,851,117 H175L probably damaging Het
Olfr922 T C 9: 38,815,605 I34T possibly damaging Het
Otol1 A T 3: 70,028,034 D453V probably damaging Het
Papolb G A 5: 142,528,725 H388Y probably benign Het
Ppp1r10 A G 17: 35,926,202 E128G probably damaging Het
Prss12 T A 3: 123,487,020 D451E probably damaging Het
Psmc1 T C 12: 100,114,828 probably benign Het
Pygo1 T A 9: 72,925,940 I10N probably benign Het
Rab31 C T 17: 65,722,003 probably null Het
Ret G A 6: 118,181,899 T184I probably damaging Het
Rhd A T 4: 134,884,170 M214L possibly damaging Het
Ripor3 C A 2: 167,992,762 probably benign Het
Sec16a A G 2: 26,422,040 L2036P probably benign Het
Slc26a3 C A 12: 31,457,052 D335E possibly damaging Het
Ssfa2 G A 2: 79,657,498 E642K probably damaging Het
Taf6 A G 5: 138,184,494 probably benign Het
Tnk2 T C 16: 32,675,590 V442A probably benign Het
Virma A G 4: 11,527,029 M1143V probably damaging Het
Vmn2r77 A T 7: 86,803,640 R522* probably null Het
Vmn2r-ps129 A G 17: 23,008,419 noncoding transcript Het
Zfp473 A G 7: 44,733,683 C408R probably damaging 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
IGL02756:Ddx19b APN 8 111011278 splice site probably benign
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
R8062:Ddx19b UTSW 8 111020979 missense probably benign 0.00
R8265:Ddx19b UTSW 8 111009192 missense probably damaging 1.00
Z1088:Ddx19b UTSW 8 111015575 missense probably benign 0.37
Posted On2015-04-16