Incidental Mutation 'IGL02904:Ddx17'
ID363720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx17
Ensembl Gene ENSMUSG00000055065
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 17
SynonymsA430025E01Rik, 2610007K22Rik, p72, LOC381024
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02904
Quality Score
Status
Chromosome15
Chromosomal Location79527736-79546741 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 79530437 bp
ZygosityHeterozygous
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]
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: 119,484,454 S564P probably damaging Het
A1cf A C 19: 31,934,806 K432N probably damaging Het
Acp7 A T 7: 28,608,003 D476E probably benign Het
Aqp9 T A 9: 71,138,148 I60F probably damaging Het
B2m A C 2: 122,151,161 probably benign Het
B3galt1 T A 2: 68,118,745 V268E probably damaging Het
BC037034 C T 5: 138,260,602 V232I probably benign Het
Cacna1a T C 8: 84,579,520 L1299P probably damaging Het
Ces2e C T 8: 104,931,338 P356L probably benign Het
Crmp1 A T 5: 37,288,918 K639N possibly damaging Het
Dner C T 1: 84,534,944 V301M probably damaging Het
Efr3b T G 12: 3,984,583 I196L probably damaging Het
Fat1 T C 8: 45,040,682 V3955A probably damaging Het
Gid4 T C 11: 60,417,735 I27T probably benign Het
Glis3 A G 19: 28,357,952 F571L possibly damaging Het
Gm4950 T C 18: 51,865,731 I51V probably benign Het
Gm5592 T C 7: 41,288,386 L364P probably damaging Het
Gm884 A C 11: 103,616,361 probably benign Het
Gucy2d G A 7: 98,462,189 probably null Het
Kpna6 A G 4: 129,650,687 I411T probably benign Het
Lcn11 A G 2: 25,779,266 D145G probably null Het
Med12 A G X: 101,294,178 probably null Het
Mtor A G 4: 148,452,394 K42E possibly damaging Het
Mtor A G 4: 148,491,612 probably benign Het
Mybpc2 T C 7: 44,522,341 D55G probably benign Het
Myo1f T A 17: 33,585,658 C445* probably null Het
Naca C T 10: 128,043,290 probably benign Het
Nlgn2 T C 11: 69,825,840 Y625C possibly damaging Het
Nlrp9c A T 7: 26,375,290 C827S probably damaging Het
Nudt12 T A 17: 59,010,352 N100I probably benign Het
Olfr1009 T C 2: 85,721,755 S117P probably damaging Het
Olfr224 T A 11: 58,566,797 T183S possibly damaging Het
Olfr284 A T 15: 98,340,848 L31Q probably null Het
Olfr77 A T 9: 19,921,097 D296V probably damaging Het
Picalm G A 7: 90,176,411 probably benign Het
Pkd1l1 A G 11: 8,868,450 probably benign Het
Scube3 T C 17: 28,167,600 V831A probably benign Het
Slco5a1 A G 1: 12,921,097 I456T probably damaging Het
Snx3 A G 10: 42,534,694 H110R probably damaging Het
Spef2 T C 15: 9,679,346 D635G probably damaging Het
St3gal5 A T 6: 72,147,124 I212L possibly damaging Het
Syvn1 T A 19: 6,049,815 Y192* probably null Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Tmtc1 A G 6: 148,249,482 probably benign Het
Trip11 T G 12: 101,886,838 E499D probably damaging Het
Ttn A T 2: 76,732,031 N28823K probably damaging Het
Unc13c C A 9: 73,481,067 G2146* probably null Het
Ush2a G T 1: 188,906,506 V4038L probably benign Het
Zc3h7a T G 16: 11,150,666 D483A probably damaging Het
Zfyve19 T C 2: 119,210,472 probably benign Het
Other mutations in Ddx17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02030:Ddx17 APN 15 79530376 missense probably benign
PIT4469001:Ddx17 UTSW 15 79543813 missense probably damaging 1.00
R0437:Ddx17 UTSW 15 79537471 missense probably damaging 1.00
R0507:Ddx17 UTSW 15 79537557 splice site probably benign
R1160:Ddx17 UTSW 15 79541087 missense probably damaging 1.00
R1456:Ddx17 UTSW 15 79530376 missense probably benign
R1572:Ddx17 UTSW 15 79538565 missense probably damaging 0.99
R4510:Ddx17 UTSW 15 79538592 missense probably damaging 1.00
R4511:Ddx17 UTSW 15 79538592 missense probably damaging 1.00
R4576:Ddx17 UTSW 15 79541146 missense probably benign
R6955:Ddx17 UTSW 15 79530467 missense probably benign 0.01
R7152:Ddx17 UTSW 15 79530263 missense possibly damaging 0.53
R7320:Ddx17 UTSW 15 79531904 missense probably damaging 1.00
R7805:Ddx17 UTSW 15 79537522 missense probably damaging 1.00
R7901:Ddx17 UTSW 15 79538588 missense probably damaging 1.00
R7984:Ddx17 UTSW 15 79538588 missense probably damaging 1.00
Z1177:Ddx17 UTSW 15 79530172 missense probably benign 0.33
Posted On2015-12-18