Incidental Mutation 'R0437:Ddx17'
ID 39113
Institutional Source Beutler Lab
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
MMRRC Submission 038638-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0437 (G1)
Quality Score 117
Status Validated
Chromosome 15
Chromosomal Location 79411937-79430942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79421672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 351 (R351H)
Ref Sequence ENSEMBL: ENSMUSP00000155365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054014] [ENSMUST00000229431] [ENSMUST00000229877] [ENSMUST00000231053]
AlphaFold Q501J6
Predicted Effect probably damaging
Transcript: ENSMUST00000054014
AA Change: R351H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065
AA Change: R351H

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 damaging
Transcript: ENSMUST00000229431
AA Change: R351H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000229877
AA Change: R351H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231053
AA Change: R351H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1508 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (104/104)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik G A 13: 119,606,631 (GRCm39) R291K probably benign Het
Abca2 T C 2: 25,332,857 (GRCm39) S1519P probably damaging Het
Abcb11 G A 2: 69,087,639 (GRCm39) A1042V probably damaging Het
Abcc10 A T 17: 46,623,845 (GRCm39) probably null Het
Abcc10 G T 17: 46,623,846 (GRCm39) probably benign Het
Alkbh3 A C 2: 93,811,914 (GRCm39) L240V probably damaging Het
Apol10b T C 15: 77,469,608 (GRCm39) S190G probably benign Het
Atp1a3 C A 7: 24,698,392 (GRCm39) C135F probably benign Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
Bicra A G 7: 15,722,687 (GRCm39) S277P possibly damaging Het
Bltp1 A T 3: 37,043,953 (GRCm39) H2820L possibly damaging Het
Bmp8a T C 4: 123,210,690 (GRCm39) E275G probably benign Het
Ccdc102a T C 8: 95,640,054 (GRCm39) E80G probably damaging Het
Cdh23 T C 10: 60,246,576 (GRCm39) D954G probably damaging Het
Chrm4 A G 2: 91,758,788 (GRCm39) T399A possibly damaging Het
Clcn3 A G 8: 61,387,571 (GRCm39) V199A possibly damaging Het
Crlf1 T C 8: 70,952,164 (GRCm39) probably null Het
Crx G T 7: 15,605,071 (GRCm39) S57* probably null Het
Cstpp1 A G 2: 91,252,298 (GRCm39) L21P probably damaging Het
Cyp4f16 A G 17: 32,756,072 (GRCm39) I34V possibly damaging Het
Daxx T C 17: 34,132,598 (GRCm39) V576A probably benign Het
Dhx38 T C 8: 110,285,261 (GRCm39) probably benign Het
Dnd1 T C 18: 36,897,552 (GRCm39) probably benign Het
Dync1i2 A T 2: 71,058,169 (GRCm39) probably null Het
E2f6 T C 12: 16,866,446 (GRCm39) S52P probably benign Het
Epb41l4a A G 18: 34,013,326 (GRCm39) F116S probably damaging Het
Ext1 T C 15: 52,969,502 (GRCm39) N362S probably damaging Het
Fam227a C A 15: 79,528,189 (GRCm39) K79N possibly damaging Het
Fam228a T A 12: 4,782,759 (GRCm39) L111F probably damaging Het
Fat2 T C 11: 55,173,625 (GRCm39) T2363A probably benign Het
Fat3 A T 9: 15,908,228 (GRCm39) N2591K probably damaging Het
Frem2 A G 3: 53,560,436 (GRCm39) M1357T possibly damaging Het
Frmd4b A T 6: 97,400,424 (GRCm39) V29D probably damaging Het
G930045G22Rik A G 6: 50,823,918 (GRCm39) noncoding transcript Het
Galnt3 A G 2: 65,937,573 (GRCm39) S46P possibly damaging Het
Gmeb2 A G 2: 180,895,766 (GRCm39) V468A possibly damaging Het
Herc2 C T 7: 55,869,563 (GRCm39) R4271* probably null Het
Il5 C A 11: 53,614,733 (GRCm39) probably benign Het
Ints9 G A 14: 65,223,818 (GRCm39) probably benign Het
Itga10 T C 3: 96,556,453 (GRCm39) F196S probably damaging Het
Itgb3bp T C 4: 99,670,126 (GRCm39) T138A probably damaging Het
Kcnd1 G A X: 7,690,922 (GRCm39) V281M probably benign Het
Lcp2 T C 11: 34,037,229 (GRCm39) L391P probably benign Het
Lrrc66 T C 5: 73,765,030 (GRCm39) Y671C probably benign Het
Mettl23 T C 11: 116,740,120 (GRCm39) V197A possibly damaging Het
Mmp15 C A 8: 96,097,400 (GRCm39) D456E probably benign Het
Mospd4 T C 18: 46,598,848 (GRCm39) noncoding transcript Het
Mov10l1 C A 15: 88,889,515 (GRCm39) H484N probably damaging Het
Mphosph9 T C 5: 124,453,631 (GRCm39) Q197R probably benign Het
Ms4a1 T A 19: 11,233,933 (GRCm39) probably null Het
Mybbp1a T C 11: 72,339,674 (GRCm39) V919A possibly damaging Het
Mycbpap A T 11: 94,404,338 (GRCm39) probably benign Het
Naip6 G A 13: 100,433,432 (GRCm39) S1135F possibly damaging Het
Ndufc2 T A 7: 97,049,544 (GRCm39) M50K probably benign Het
Npr2 T C 4: 43,648,082 (GRCm39) V842A probably damaging Het
Ntsr2 G T 12: 16,703,696 (GRCm39) G66W probably damaging Het
Obscn T C 11: 58,885,914 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or4c11 T A 2: 88,695,229 (GRCm39) N93K probably benign Het
Or4c114 T A 2: 88,904,956 (GRCm39) I160F probably benign Het
Or6c33 T C 10: 129,853,965 (GRCm39) V245A probably damaging Het
Or6k14 G A 1: 173,927,965 (GRCm39) G314R probably benign Het
Otud4 T A 8: 80,396,626 (GRCm39) H628Q probably benign Het
Padi6 T C 4: 140,456,240 (GRCm39) T585A probably benign Het
Pex16 G T 2: 92,205,937 (GRCm39) R10L probably damaging Het
Pitpnm2 A G 5: 124,269,152 (GRCm39) probably benign Het
Pom121l2 A G 13: 22,167,375 (GRCm39) T549A possibly damaging Het
Prdm15 A T 16: 97,613,759 (GRCm39) M470K probably benign Het
Prkag2 T A 5: 25,233,503 (GRCm39) D49V possibly damaging Het
Prl3c1 A G 13: 27,383,447 (GRCm39) M38V probably benign Het
Prpf18 T A 2: 4,648,572 (GRCm39) I85F possibly damaging Het
Psg27 A G 7: 18,294,636 (GRCm39) probably benign Het
Relt A G 7: 100,497,991 (GRCm39) probably benign Het
Rskr T C 11: 78,182,362 (GRCm39) L57P probably benign Het
Serpina3b A T 12: 104,096,929 (GRCm39) N70I probably damaging Het
Slc19a3 T C 1: 83,000,286 (GRCm39) S244G probably benign Het
Slc39a5 T C 10: 128,235,716 (GRCm39) T81A possibly damaging Het
Slc7a2 G A 8: 41,357,563 (GRCm39) G277D probably damaging Het
Slc9c1 C T 16: 45,420,250 (GRCm39) probably benign Het
Slx1b A G 7: 126,291,753 (GRCm39) F104L probably benign Het
Smg6 G A 11: 74,820,527 (GRCm39) S266N probably damaging Het
Spata9 T C 13: 76,146,614 (GRCm39) V162A possibly damaging Het
Szrd1 T C 4: 140,846,055 (GRCm39) I47V probably benign Het
Tha1 G T 11: 117,759,401 (GRCm39) L363M probably benign Het
Tmc6 G A 11: 117,669,087 (GRCm39) T89I possibly damaging Het
Tmem132d C T 5: 127,866,849 (GRCm39) G684R probably damaging Het
Trim55 G A 3: 19,725,142 (GRCm39) G220S probably benign Het
Ttn A G 2: 76,600,874 (GRCm39) L18836P probably damaging Het
Ubn1 G T 16: 4,890,048 (GRCm39) probably benign Het
Ush2a T G 1: 188,643,228 (GRCm39) W4197G probably benign Het
Vmn1r189 A T 13: 22,286,231 (GRCm39) V202E probably damaging Het
Vmn1r209 T C 13: 22,990,526 (GRCm39) I55V probably benign Het
Vmn2r86 A T 10: 130,282,412 (GRCm39) C735S probably damaging Het
Vwf A T 6: 125,543,281 (GRCm39) D174V probably damaging Het
Zfp438 T C 18: 5,214,910 (GRCm39) N16S probably damaging Het
Zfp444 C T 7: 6,192,408 (GRCm39) T142I probably benign Het
Zfp804a A G 2: 81,884,135 (GRCm39) M1V probably null Het
Zfp936 T G 7: 42,838,734 (GRCm39) I67S probably benign Het
Zfp948 A T 17: 21,807,260 (GRCm39) N151Y unknown Het
Other mutations in Ddx17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02030:Ddx17 APN 15 79,414,577 (GRCm39) missense probably benign
IGL02904:Ddx17 APN 15 79,414,638 (GRCm39) nonsense probably null
PIT4469001:Ddx17 UTSW 15 79,428,014 (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
Predicted Primers PCR Primer
(F):5'- GCATCATTTGGAAACTGCCTGAGC -3'
(R):5'- GCACTGTGCCCATAAAGGGAATACG -3'

Sequencing Primer
(F):5'- ccccaaccacacaattatcttac -3'
(R):5'- GATCCAGCTGATGGAGGAAA -3'
Posted On 2013-05-23