Incidental Mutation 'IGL01743:Dhx16'
ID152909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx16
Ensembl Gene ENSMUSG00000024422
Gene NameDEAH (Asp-Glu-Ala-His) box polypeptide 16
SynonymsDdx16, DBP2, 2410006N22Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01743
Quality Score
Status
Chromosome17
Chromosomal Location35879819-35892670 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35888108 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 782 (D782G)
Ref Sequence ENSEMBL: ENSMUSP00000025292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025292] [ENSMUST00000146451] [ENSMUST00000148482] [ENSMUST00000148721] [ENSMUST00000174366]
Predicted Effect probably damaging
Transcript: ENSMUST00000025292
AA Change: D782G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: D782G

DomainStartEndE-ValueType
Blast:DEXDc 55 310 6e-57 BLAST
DEXDc 400 585 7.26e-33 SMART
HELICc 636 733 1.7e-15 SMART
HA2 794 885 2.24e-31 SMART
Pfam:OB_NTP_bind 901 1018 3.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059740
SMART Domains Protein: ENSMUSP00000050693
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 54 66 N/A INTRINSIC
Pfam:DUF2358 75 200 5.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146451
SMART Domains Protein: ENSMUSP00000115771
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 45 57 N/A INTRINSIC
Pfam:DUF2358 66 191 1.5e-35 PFAM
low complexity region 206 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148482
SMART Domains Protein: ENSMUSP00000114151
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 45 57 N/A INTRINSIC
Pfam:DUF2358 66 191 1.5e-35 PFAM
low complexity region 206 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148721
SMART Domains Protein: ENSMUSP00000116278
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 28 79 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
Pfam:DUF2358 149 274 1.4e-36 PFAM
low complexity region 289 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154670
SMART Domains Protein: ENSMUSP00000123547
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
Pfam:DUF2358 2 97 7.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173596
Predicted Effect probably benign
Transcript: ENSMUST00000173967
SMART Domains Protein: ENSMUSP00000133818
Gene: ENSMUSG00000024422

DomainStartEndE-ValueType
Blast:DEXDc 2 83 5e-35 BLAST
PDB:3I4U|A 4 83 6e-14 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174330
Predicted Effect probably benign
Transcript: ENSMUST00000174366
SMART Domains Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422

DomainStartEndE-ValueType
Blast:DEXDc 55 310 9e-58 BLAST
DEXDc 400 585 7.26e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174449
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 is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik G T 8: 3,364,697 C25F probably benign Het
Abcc6 A T 7: 45,996,814 N750K probably benign Het
Ackr2 T C 9: 121,909,500 C314R probably benign Het
Adar C T 3: 89,745,440 Q210* probably null Het
Aifm1 A G X: 48,480,276 probably benign Het
Aldoa G T 7: 126,796,703 D198E probably damaging Het
Ampd1 T A 3: 103,094,885 probably benign Het
Btnl1 T C 17: 34,385,685 I480T probably damaging Het
Capn9 T C 8: 124,591,769 S125P probably benign Het
Cd40lg T A X: 57,212,232 Y26* probably null Het
Cdc42bpg G T 19: 6,309,823 probably null Het
Cdh10 T C 15: 18,986,769 L362P probably benign Het
Dnajb14 G T 3: 137,906,000 V320L possibly damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Ercc6 T C 14: 32,552,604 V568A probably damaging Het
Faf2 T C 13: 54,641,498 probably null Het
Fbrsl1 C T 5: 110,381,640 V223M probably damaging Het
Fcrl5 T C 3: 87,444,291 V282A probably damaging Het
Fxr2 C T 11: 69,652,622 L650F possibly damaging Het
Gabrq A G X: 72,836,842 M314V probably benign Het
Gnas T A 2: 174,298,332 Y157* probably null Het
Gtf2i T C 5: 134,286,893 E175G probably damaging Het
Gtf3c1 A C 7: 125,663,415 Y1091D probably damaging Het
Heatr5b G A 17: 78,824,640 Q345* probably null Het
Hydin T C 8: 110,592,776 V4437A possibly damaging Het
Idi2 T A 13: 8,958,542 L112Q probably damaging Het
Ift80 C T 3: 68,962,296 V221M probably benign Het
Il16 A G 7: 83,652,299 F205S probably benign Het
Irf1 T A 11: 53,774,451 M218K probably benign Het
Itga8 T C 2: 12,265,333 N114S probably benign Het
Itgae T C 11: 73,111,759 V114A probably benign Het
Klhdc10 A G 6: 30,441,934 probably null Het
Krt78 C A 15: 101,950,898 R288L probably benign Het
Lars2 A T 9: 123,453,248 L632F probably damaging Het
Mpdz T C 4: 81,317,682 D1220G probably damaging Het
Msl1 C T 11: 98,805,419 T597I probably damaging Het
Mtor T C 4: 148,530,613 probably benign Het
Myo1b T C 1: 51,782,020 T435A probably damaging Het
Neb A G 2: 52,225,667 Y4176H probably damaging Het
Nxpe3 A G 16: 55,849,765 F326L probably benign Het
Olfr532 T C 7: 140,419,668 Y35C probably damaging Het
Olfr705 A G 7: 106,714,334 S116P possibly damaging Het
Pak7 T A 2: 136,087,413 R617W probably damaging Het
Peak1 C A 9: 56,259,202 V481L probably damaging Het
Pik3ap1 G A 19: 41,292,828 probably benign Het
Pmm1 C T 15: 81,960,786 E6K probably benign Het
Ppp2r5c G A 12: 110,580,434 V454M probably benign Het
Ptprf C T 4: 118,248,898 probably null Het
Pygm G A 19: 6,392,994 probably null Het
Rimbp2 T A 5: 128,797,848 probably benign Het
Rps6ka5 A T 12: 100,575,633 probably null Het
Scarb2 A G 5: 92,460,803 V188A probably benign Het
Sfrp1 T A 8: 23,412,338 probably benign Het
Siglec15 T A 18: 78,043,605 probably benign Het
Smgc A G 15: 91,854,593 I485V probably benign Het
Tas2r124 A G 6: 132,754,835 I36V probably benign Het
Trmt10b G T 4: 45,305,879 G185W probably damaging Het
Ttll4 A G 1: 74,688,193 N798S possibly damaging Het
Ttn G T 2: 76,789,552 T15924N probably damaging Het
Utrn A T 10: 12,711,557 Y912N possibly damaging Het
Vmn2r113 T C 17: 22,958,311 Y690H probably benign Het
Vmn2r51 T C 7: 10,100,227 R295G probably damaging Het
Vpreb3 A G 10: 75,948,397 T14A probably benign Het
Other mutations in Dhx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Dhx16 APN 17 35887934 missense probably benign 0.02
IGL01533:Dhx16 APN 17 35882047 missense probably damaging 1.00
IGL01946:Dhx16 APN 17 35885504 missense probably benign 0.01
IGL02170:Dhx16 APN 17 35889469 missense probably damaging 1.00
IGL02327:Dhx16 APN 17 35883825 missense probably benign 0.00
IGL02334:Dhx16 APN 17 35884057 missense probably damaging 1.00
IGL02417:Dhx16 APN 17 35892537 missense probably damaging 1.00
R0403:Dhx16 UTSW 17 35883050 critical splice donor site probably null
R0410:Dhx16 UTSW 17 35890967 missense probably damaging 1.00
R0544:Dhx16 UTSW 17 35881659 missense probably benign 0.35
R0835:Dhx16 UTSW 17 35881689 missense probably damaging 1.00
R0845:Dhx16 UTSW 17 35883302 missense probably damaging 1.00
R1642:Dhx16 UTSW 17 35891065 missense probably damaging 1.00
R1833:Dhx16 UTSW 17 35885619 missense probably benign 0.36
R1905:Dhx16 UTSW 17 35888355 missense probably benign
R2233:Dhx16 UTSW 17 35887886 missense probably damaging 1.00
R2234:Dhx16 UTSW 17 35887886 missense probably damaging 1.00
R4647:Dhx16 UTSW 17 35885635 missense probably benign 0.10
R4648:Dhx16 UTSW 17 35885635 missense probably benign 0.10
R4665:Dhx16 UTSW 17 35879943 missense probably damaging 1.00
R4674:Dhx16 UTSW 17 35885939 missense probably damaging 1.00
R4862:Dhx16 UTSW 17 35883262 missense probably benign 0.34
R5089:Dhx16 UTSW 17 35884089 missense probably damaging 1.00
R5122:Dhx16 UTSW 17 35883310 missense probably damaging 1.00
R5665:Dhx16 UTSW 17 35891086 nonsense probably null
R5748:Dhx16 UTSW 17 35883314 missense probably damaging 1.00
R5763:Dhx16 UTSW 17 35881688 missense possibly damaging 0.87
R5956:Dhx16 UTSW 17 35882870 missense probably damaging 0.96
R6001:Dhx16 UTSW 17 35883874 missense probably damaging 1.00
R6216:Dhx16 UTSW 17 35882972 missense possibly damaging 0.49
R6420:Dhx16 UTSW 17 35883014 missense possibly damaging 0.92
R6467:Dhx16 UTSW 17 35886184 missense probably damaging 1.00
R7326:Dhx16 UTSW 17 35886160 missense probably damaging 1.00
R7338:Dhx16 UTSW 17 35888144 missense probably damaging 1.00
R7457:Dhx16 UTSW 17 35891060 missense probably damaging 1.00
R7736:Dhx16 UTSW 17 35881676 missense possibly damaging 0.79
Posted On2014-02-04