Incidental Mutation 'IGL02904:Ddx17'
ID 363720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx17
Ensembl Gene ENSMUSG00000055065
Gene Name DEAD box helicase 17
Synonyms p72, LOC381024, 2610007K22Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 17, A430025E01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02904
Quality Score
Status
Chromosome 15
Chromosomal Location 79411937-79430942 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 79414638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 510 (R510*)
Ref Sequence ENSEMBL: ENSMUSP00000155307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010974] [ENSMUST00000054014] [ENSMUST00000229431] [ENSMUST00000229877] [ENSMUST00000231053]
AlphaFold Q501J6
Predicted Effect probably benign
Transcript: ENSMUST00000010974
SMART Domains Protein: ENSMUSP00000010974
Gene: ENSMUSG00000010830

DomainStartEndE-ValueType
Pfam:ER_lumen_recept 28 169 3.3e-54 PFAM
transmembrane domain 179 200 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000054014
AA Change: R512*
SMART Domains Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065
AA Change: R512*

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Blast:DEXDc 29 87 7e-18 BLAST
DEXDc 111 314 4.79e-65 SMART
HELICc 353 434 3.34e-32 SMART
low complexity region 477 486 N/A INTRINSIC
low complexity region 550 576 N/A INTRINSIC
low complexity region 578 611 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229431
Predicted Effect probably null
Transcript: ENSMUST00000229877
AA Change: R510*
Predicted Effect probably benign
Transcript: ENSMUST00000231053
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the mouse homolog of human DEAD box polypeptide 17. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD). RNA helicases of the DEAD-box family are involved in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,620,990 (GRCm39) S564P probably damaging Het
A1cf A C 19: 31,912,206 (GRCm39) K432N probably damaging Het
Acp7 A T 7: 28,307,428 (GRCm39) D476E probably benign Het
Aqp9 T A 9: 71,045,430 (GRCm39) I60F probably damaging Het
B2m A C 2: 121,981,642 (GRCm39) probably benign Het
B3galt1 T A 2: 67,949,089 (GRCm39) V268E probably damaging Het
Cacna1a T C 8: 85,306,149 (GRCm39) L1299P probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Ces2e C T 8: 105,657,970 (GRCm39) P356L probably benign Het
Crmp1 A T 5: 37,446,262 (GRCm39) K639N possibly damaging Het
Dner C T 1: 84,512,665 (GRCm39) V301M probably damaging Het
Efr3b T G 12: 4,034,583 (GRCm39) I196L probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Gid4 T C 11: 60,308,561 (GRCm39) I27T probably benign Het
Glis3 A G 19: 28,335,352 (GRCm39) F571L possibly damaging Het
Gm4950 T C 18: 51,998,803 (GRCm39) I51V probably benign Het
Gm5592 T C 7: 40,937,810 (GRCm39) L364P probably damaging Het
Gucy2d G A 7: 98,111,396 (GRCm39) probably null Het
Kpna6 A G 4: 129,544,480 (GRCm39) I411T probably benign Het
Lcn11 A G 2: 25,669,278 (GRCm39) D145G probably null Het
Lrrc37 A C 11: 103,507,187 (GRCm39) probably benign Het
Med12 A G X: 100,337,784 (GRCm39) probably null Het
Mtor A G 4: 148,536,851 (GRCm39) K42E possibly damaging Het
Mtor A G 4: 148,576,069 (GRCm39) probably benign Het
Mybpc2 T C 7: 44,171,765 (GRCm39) D55G probably benign Het
Myo1f T A 17: 33,804,632 (GRCm39) C445* probably null Het
Naca C T 10: 127,879,159 (GRCm39) probably benign Het
Nlgn2 T C 11: 69,716,666 (GRCm39) Y625C possibly damaging Het
Nlrp9c A T 7: 26,074,715 (GRCm39) C827S probably damaging Het
Nudt12 T A 17: 59,317,347 (GRCm39) N100I probably benign Het
Or2t43 T A 11: 58,457,623 (GRCm39) T183S possibly damaging Het
Or5g9 T C 2: 85,552,099 (GRCm39) S117P probably damaging Het
Or7d10 A T 9: 19,832,393 (GRCm39) D296V probably damaging Het
Or8s5 A T 15: 98,238,729 (GRCm39) L31Q probably null Het
Picalm G A 7: 89,825,619 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,818,450 (GRCm39) probably benign Het
Scube3 T C 17: 28,386,574 (GRCm39) V831A probably benign Het
Slco5a1 A G 1: 12,991,321 (GRCm39) I456T probably damaging Het
Snx3 A G 10: 42,410,690 (GRCm39) H110R probably damaging Het
Spef2 T C 15: 9,679,432 (GRCm39) D635G probably damaging Het
St3gal5 A T 6: 72,124,108 (GRCm39) I212L possibly damaging Het
Syvn1 T A 19: 6,099,845 (GRCm39) Y192* probably null Het
Tmtc1 A G 6: 148,150,980 (GRCm39) probably benign Het
Trappc14 C T 5: 138,258,864 (GRCm39) V232I probably benign Het
Trip11 T G 12: 101,853,097 (GRCm39) E499D probably damaging Het
Ttn A T 2: 76,562,375 (GRCm39) N28823K probably damaging Het
Unc13c C A 9: 73,388,349 (GRCm39) G2146* probably null Het
Ush2a G T 1: 188,638,703 (GRCm39) V4038L probably benign Het
Zc3h7a T G 16: 10,968,530 (GRCm39) D483A probably damaging Het
Zfyve19 T C 2: 119,040,953 (GRCm39) probably benign Het
Other mutations in Ddx17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02030:Ddx17 APN 15 79,414,577 (GRCm39) missense probably benign
PIT4469001:Ddx17 UTSW 15 79,428,014 (GRCm39) missense probably damaging 1.00
R0437:Ddx17 UTSW 15 79,421,672 (GRCm39) missense probably damaging 1.00
R0507:Ddx17 UTSW 15 79,421,758 (GRCm39) splice site probably benign
R1160:Ddx17 UTSW 15 79,425,288 (GRCm39) missense probably damaging 1.00
R1456:Ddx17 UTSW 15 79,414,577 (GRCm39) missense probably benign
R1572:Ddx17 UTSW 15 79,422,766 (GRCm39) missense probably damaging 0.99
R4510:Ddx17 UTSW 15 79,422,793 (GRCm39) missense probably damaging 1.00
R4511:Ddx17 UTSW 15 79,422,793 (GRCm39) missense probably damaging 1.00
R4576:Ddx17 UTSW 15 79,425,347 (GRCm39) missense probably benign
R6955:Ddx17 UTSW 15 79,414,668 (GRCm39) missense probably benign 0.01
R7152:Ddx17 UTSW 15 79,414,464 (GRCm39) missense possibly damaging 0.53
R7320:Ddx17 UTSW 15 79,416,105 (GRCm39) missense probably damaging 1.00
R7805:Ddx17 UTSW 15 79,421,723 (GRCm39) missense probably damaging 1.00
R7901:Ddx17 UTSW 15 79,422,789 (GRCm39) missense probably damaging 1.00
R7976:Ddx17 UTSW 15 79,420,156 (GRCm39) critical splice donor site probably null
R8934:Ddx17 UTSW 15 79,420,217 (GRCm39) missense possibly damaging 0.58
Z1177:Ddx17 UTSW 15 79,414,373 (GRCm39) missense probably benign 0.33
Posted On 2015-12-18