Incidental Mutation 'IGL01533:Dhx16'
ID89838
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 #IGL01533
Quality Score
Status
Chromosome17
Chromosomal Location35879819-35892670 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35882047 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 215 (L215P)
Ref Sequence ENSEMBL: ENSMUSP00000133888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025292] [ENSMUST00000174366]
Predicted Effect probably damaging
Transcript: ENSMUST00000025292
AA Change: L215P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: L215P

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 damaging
Transcript: ENSMUST00000174366
AA Change: L215P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422
AA Change: L215P

DomainStartEndE-ValueType
Blast:DEXDc 55 310 9e-58 BLAST
DEXDc 400 585 7.26e-33 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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C A 18: 67,405,418 E757* probably null Het
Arhgap15 T C 2: 44,243,153 V357A probably damaging Het
Asb13 T C 13: 3,642,164 V48A probably benign Het
Bbs7 T C 3: 36,610,235 R74G possibly damaging Het
Capn11 T C 17: 45,632,904 H568R probably benign Het
Cbx5 T C 15: 103,205,634 E61G probably damaging Het
Ccdc158 T C 5: 92,609,956 probably null Het
Col14a1 C A 15: 55,420,840 N832K unknown Het
Cyp2a4 A T 7: 26,308,544 K125N probably damaging Het
Dtx4 T C 19: 12,478,215 M480V possibly damaging Het
Edaradd A G 13: 12,478,582 probably benign Het
Galnt13 T A 2: 54,880,132 M312K probably damaging Het
Gcdh T A 8: 84,889,362 R337W probably damaging Het
Gm28557 A T 13: 67,071,332 C109* probably null Het
Gpr22 C T 12: 31,708,710 probably benign Het
Gria4 T G 9: 4,502,395 L379F probably damaging Het
Gxylt2 T C 6: 100,783,137 L211P probably damaging Het
Igsf10 T A 3: 59,319,230 I2341F probably damaging Het
Macf1 T C 4: 123,473,873 D2365G probably damaging Het
Morc2b A G 17: 33,135,721 probably benign Het
Ncoa3 T C 2: 166,055,025 S579P probably benign Het
Nlgn1 T C 3: 25,436,363 N400S possibly damaging Het
Olfr1141 C A 2: 87,753,068 R308S probably benign Het
Olfr146 C T 9: 39,018,801 A247T probably damaging Het
Pi4ka A G 16: 17,308,201 S1102P probably benign Het
Polr1e A G 4: 45,019,328 Y59C probably damaging Het
Prex2 C T 1: 11,186,741 Q1226* probably null Het
Rab12 A T 17: 66,497,435 I176K probably damaging Het
Ryr2 A T 13: 11,721,790 N2250K probably damaging Het
Sbf1 T C 15: 89,288,716 T1865A probably damaging Het
Sema6b G A 17: 56,129,499 probably benign Het
Smarcb1 C T 10: 75,916,768 probably null Het
Sos1 A G 17: 80,415,082 L845S probably damaging Het
Stat4 T A 1: 52,098,419 N456K probably damaging Het
Tex264 A G 9: 106,673,599 I133T probably benign Het
Thoc1 T C 18: 9,962,376 V87A probably benign Het
Tmem131 C T 1: 36,818,722 D778N probably damaging Het
Tspan14 A G 14: 40,916,819 I88T probably benign Het
Ttn A G 2: 76,951,941 S984P probably damaging Het
Ttn C A 2: 76,732,574 V28679L possibly damaging Het
Vangl1 T C 3: 102,163,351 E423G possibly damaging Het
Other mutations in Dhx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Dhx16 APN 17 35887934 missense probably benign 0.02
IGL01743:Dhx16 APN 17 35888108 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
Posted On2013-12-03