Incidental Mutation 'IGL01533:Dhx16'
ID 89838
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 # IGL01533
Quality Score
Status
Chromosome 17
Chromosomal Location 36190711-36203562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36192939 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold G3X8X0
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: 67,538,488 (GRCm39) E757* probably null Het
Arhgap15 T C 2: 44,133,165 (GRCm39) V357A probably damaging Het
Asb13 T C 13: 3,692,164 (GRCm39) V48A probably benign Het
Bbs7 T C 3: 36,664,384 (GRCm39) R74G possibly damaging Het
Capn11 T C 17: 45,943,830 (GRCm39) H568R probably benign Het
Cbx5 T C 15: 103,114,061 (GRCm39) E61G probably damaging Het
Ccdc158 T C 5: 92,757,815 (GRCm39) probably null Het
Col14a1 C A 15: 55,284,236 (GRCm39) N832K unknown Het
Cyp2a4 A T 7: 26,007,969 (GRCm39) K125N probably damaging Het
Dtx4 T C 19: 12,455,579 (GRCm39) M480V possibly damaging Het
Edaradd A G 13: 12,493,463 (GRCm39) probably benign Het
Galnt13 T A 2: 54,770,144 (GRCm39) M312K probably damaging Het
Gcdh T A 8: 85,615,991 (GRCm39) R337W probably damaging Het
Gm28557 A T 13: 67,219,396 (GRCm39) C109* probably null Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Gria4 T G 9: 4,502,395 (GRCm39) L379F probably damaging Het
Gxylt2 T C 6: 100,760,098 (GRCm39) L211P probably damaging Het
Igsf10 T A 3: 59,226,651 (GRCm39) I2341F probably damaging Het
Macf1 T C 4: 123,367,666 (GRCm39) D2365G probably damaging Het
Morc2b A G 17: 33,354,695 (GRCm39) probably benign Het
Ncoa3 T C 2: 165,896,945 (GRCm39) S579P probably benign Het
Nlgn1 T C 3: 25,490,527 (GRCm39) N400S possibly damaging Het
Or5w17 C A 2: 87,583,412 (GRCm39) R308S probably benign Het
Or8g17 C T 9: 38,930,097 (GRCm39) A247T probably damaging Het
Pi4ka A G 16: 17,126,065 (GRCm39) S1102P probably benign Het
Polr1e A G 4: 45,019,328 (GRCm39) Y59C probably damaging Het
Prex2 C T 1: 11,256,965 (GRCm39) Q1226* probably null Het
Rab12 A T 17: 66,804,430 (GRCm39) I176K probably damaging Het
Ryr2 A T 13: 11,736,676 (GRCm39) N2250K probably damaging Het
Sbf1 T C 15: 89,172,919 (GRCm39) T1865A probably damaging Het
Sema6b G A 17: 56,436,499 (GRCm39) probably benign Het
Smarcb1 C T 10: 75,752,602 (GRCm39) probably null Het
Sos1 A G 17: 80,722,511 (GRCm39) L845S probably damaging Het
Stat4 T A 1: 52,137,578 (GRCm39) N456K probably damaging Het
Tex264 A G 9: 106,550,798 (GRCm39) I133T probably benign Het
Thoc1 T C 18: 9,962,376 (GRCm39) V87A probably benign Het
Tmem131 C T 1: 36,857,803 (GRCm39) D778N probably damaging Het
Tspan14 A G 14: 40,638,776 (GRCm39) I88T probably benign Het
Ttn C A 2: 76,562,918 (GRCm39) V28679L possibly damaging Het
Ttn A G 2: 76,782,285 (GRCm39) S984P probably damaging Het
Vangl1 T C 3: 102,070,667 (GRCm39) E423G possibly damaging Het
Other mutations in Dhx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Dhx16 APN 17 36,198,826 (GRCm39) missense probably benign 0.02
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
IGL02327:Dhx16 APN 17 36,194,717 (GRCm39) missense probably benign 0.00
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 2013-12-03