Incidental Mutation 'IGL02327:Dhx16'
ID 288525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx16
Ensembl Gene ENSMUSG00000024422
Gene Name DEAH-box helicase 16
Synonyms DBP2, DEAH (Asp-Glu-Ala-His) box polypeptide 16, Ddx16, 2410006N22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02327
Quality Score
Status
Chromosome 17
Chromosomal Location 36190711-36203562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36194717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 446 (K446R)
Ref Sequence ENSEMBL: ENSMUSP00000133888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025292] [ENSMUST00000174366]
AlphaFold G3X8X0
Predicted Effect probably benign
Transcript: ENSMUST00000025292
AA Change: K446R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: K446R

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 noncoding transcript
Transcript: ENSMUST00000172730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174330
Predicted Effect probably benign
Transcript: ENSMUST00000174366
AA Change: K446R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422
AA Change: K446R

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,849 (GRCm39) C29S probably damaging Het
Ccdc66 G A 14: 27,215,343 (GRCm39) A399V probably damaging Het
Ccl12 A G 11: 81,993,948 (GRCm39) I68M possibly damaging Het
Cd244a T C 1: 171,386,909 (GRCm39) V6A probably benign Het
Cfap97 T A 8: 46,623,179 (GRCm39) S190T probably damaging Het
Chic2 G T 5: 75,187,741 (GRCm39) C106* probably null Het
Ctdsp2 G A 10: 126,832,251 (GRCm39) D237N probably benign Het
Cyp2a22 A T 7: 26,634,206 (GRCm39) M316K probably damaging Het
Cyp3a25 A G 5: 145,923,731 (GRCm39) F304S possibly damaging Het
Ddc A T 11: 11,813,739 (GRCm39) V209D probably damaging Het
Fgd3 T C 13: 49,439,274 (GRCm39) K241E probably damaging Het
Hps1 G T 19: 42,744,784 (GRCm39) probably benign Het
Inpp4b C T 8: 82,768,591 (GRCm39) T700I probably benign Het
Kremen2 T A 17: 23,962,543 (GRCm39) M157L probably benign Het
Lrwd1 T C 5: 136,152,318 (GRCm39) Y582C probably damaging Het
Macf1 T A 4: 123,365,523 (GRCm39) R1514S probably benign Het
Mex3c T A 18: 73,723,781 (GRCm39) C625S probably damaging Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Ncf2 A T 1: 152,692,744 (GRCm39) Y87F possibly damaging Het
Neo1 T C 9: 58,810,371 (GRCm39) T1027A probably benign Het
Nfkbib G T 7: 28,458,568 (GRCm39) P347Q probably benign Het
Nr1h2 G A 7: 44,200,924 (GRCm39) probably benign Het
Or1e25 A T 11: 73,493,981 (GRCm39) T192S probably damaging Het
Or2t43 T A 11: 58,457,761 (GRCm39) R137W probably damaging Het
Or9m2 A T 2: 87,820,601 (GRCm39) I49F probably damaging Het
Oxct1 A G 15: 4,066,571 (GRCm39) probably null Het
Pak1ip1 T G 13: 41,165,893 (GRCm39) N308K probably benign Het
Prpf38a T C 4: 108,425,607 (GRCm39) R224G unknown Het
Scfd1 T C 12: 51,436,100 (GRCm39) V83A possibly damaging Het
Tmem131 C T 1: 36,838,103 (GRCm39) G1545D probably damaging Het
Trav13n-4 A T 14: 53,601,567 (GRCm39) probably benign Het
Ttc3 A G 16: 94,248,967 (GRCm39) D1155G probably damaging Het
Unc80 G A 1: 66,680,832 (GRCm39) V2143I probably benign Het
Vmn2r16 T C 5: 109,487,987 (GRCm39) Y287H probably benign Het
Vmn2r59 A G 7: 41,661,655 (GRCm39) V720A probably benign Het
Wars1 T A 12: 108,832,227 (GRCm39) probably null Het
Wdcp A G 12: 4,901,115 (GRCm39) K324E possibly damaging Het
Wdfy3 A T 5: 102,036,058 (GRCm39) L2105H probably damaging Het
Xirp2 A T 2: 67,340,444 (GRCm39) D895V probably damaging Het
Zscan10 A T 17: 23,826,546 (GRCm39) probably benign Het
Other mutations in Dhx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Dhx16 APN 17 36,198,826 (GRCm39) missense probably benign 0.02
IGL01533:Dhx16 APN 17 36,192,939 (GRCm39) missense probably damaging 1.00
IGL01743:Dhx16 APN 17 36,199,000 (GRCm39) missense probably damaging 1.00
IGL01946:Dhx16 APN 17 36,196,396 (GRCm39) missense probably benign 0.01
IGL02170:Dhx16 APN 17 36,200,361 (GRCm39) missense probably damaging 1.00
IGL02334:Dhx16 APN 17 36,194,949 (GRCm39) missense probably damaging 1.00
IGL02417:Dhx16 APN 17 36,203,429 (GRCm39) missense probably damaging 1.00
R0403:Dhx16 UTSW 17 36,193,942 (GRCm39) critical splice donor site probably null
R0410:Dhx16 UTSW 17 36,201,859 (GRCm39) missense probably damaging 1.00
R0544:Dhx16 UTSW 17 36,192,551 (GRCm39) missense probably benign 0.35
R0835:Dhx16 UTSW 17 36,192,581 (GRCm39) missense probably damaging 1.00
R0845:Dhx16 UTSW 17 36,194,194 (GRCm39) missense probably damaging 1.00
R1642:Dhx16 UTSW 17 36,201,957 (GRCm39) missense probably damaging 1.00
R1833:Dhx16 UTSW 17 36,196,511 (GRCm39) missense probably benign 0.36
R1905:Dhx16 UTSW 17 36,199,247 (GRCm39) missense probably benign
R2233:Dhx16 UTSW 17 36,198,778 (GRCm39) missense probably damaging 1.00
R2234:Dhx16 UTSW 17 36,198,778 (GRCm39) missense probably damaging 1.00
R4647:Dhx16 UTSW 17 36,196,527 (GRCm39) missense probably benign 0.10
R4648:Dhx16 UTSW 17 36,196,527 (GRCm39) missense probably benign 0.10
R4665:Dhx16 UTSW 17 36,190,835 (GRCm39) missense probably damaging 1.00
R4674:Dhx16 UTSW 17 36,196,831 (GRCm39) missense probably damaging 1.00
R4862:Dhx16 UTSW 17 36,194,154 (GRCm39) missense probably benign 0.34
R5089:Dhx16 UTSW 17 36,194,981 (GRCm39) missense probably damaging 1.00
R5122:Dhx16 UTSW 17 36,194,202 (GRCm39) missense probably damaging 1.00
R5665:Dhx16 UTSW 17 36,201,978 (GRCm39) nonsense probably null
R5748:Dhx16 UTSW 17 36,194,206 (GRCm39) missense probably damaging 1.00
R5763:Dhx16 UTSW 17 36,192,580 (GRCm39) missense possibly damaging 0.87
R5956:Dhx16 UTSW 17 36,193,762 (GRCm39) missense probably damaging 0.96
R6001:Dhx16 UTSW 17 36,194,766 (GRCm39) missense probably damaging 1.00
R6216:Dhx16 UTSW 17 36,193,864 (GRCm39) missense possibly damaging 0.49
R6420:Dhx16 UTSW 17 36,193,906 (GRCm39) missense possibly damaging 0.92
R6467:Dhx16 UTSW 17 36,197,076 (GRCm39) missense probably damaging 1.00
R7326:Dhx16 UTSW 17 36,197,052 (GRCm39) missense probably damaging 1.00
R7338:Dhx16 UTSW 17 36,199,036 (GRCm39) missense probably damaging 1.00
R7457:Dhx16 UTSW 17 36,201,952 (GRCm39) missense probably damaging 1.00
R7736:Dhx16 UTSW 17 36,192,568 (GRCm39) missense possibly damaging 0.79
R8508:Dhx16 UTSW 17 36,196,812 (GRCm39) missense probably damaging 1.00
R8552:Dhx16 UTSW 17 36,192,183 (GRCm39) missense possibly damaging 0.83
R8733:Dhx16 UTSW 17 36,192,267 (GRCm39) missense probably benign 0.13
R8831:Dhx16 UTSW 17 36,199,000 (GRCm39) missense probably damaging 1.00
R9014:Dhx16 UTSW 17 36,193,490 (GRCm39) missense probably benign 0.00
R9194:Dhx16 UTSW 17 36,200,173 (GRCm39) missense probably benign 0.01
R9350:Dhx16 UTSW 17 36,200,203 (GRCm39) missense probably damaging 1.00
R9625:Dhx16 UTSW 17 36,193,413 (GRCm39) missense probably benign 0.11
Posted On 2015-04-16