Incidental Mutation 'R7805:Ddx17'
ID 600740
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 045860-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7805 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79411937-79430942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79421723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 334 (I334T)
Ref Sequence ENSEMBL: ENSMUSP00000055535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054014] [ENSMUST00000229431] [ENSMUST00000229877] [ENSMUST00000231053]
AlphaFold Q501J6
Predicted Effect probably damaging
Transcript: ENSMUST00000054014
AA Change: I334T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065
AA Change: I334T

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 possibly damaging
Transcript: ENSMUST00000229431
AA Change: I334T

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000229877
AA Change: I334T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231053
AA Change: I334T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.2566 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (43/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,624,128 (GRCm39) probably null Het
Aida A G 1: 183,085,633 (GRCm39) K44R probably damaging Het
Ano5 G A 7: 51,187,548 (GRCm39) V79M probably damaging Het
Armc9 G A 1: 86,124,041 (GRCm39) G405D probably damaging Het
Baat T A 4: 49,490,327 (GRCm39) R252S probably benign Het
C9orf72 G T 4: 35,194,170 (GRCm39) H372Q Het
Camkk2 G T 5: 122,880,275 (GRCm39) T447K possibly damaging Het
Car2 A G 3: 14,965,130 (GRCm39) I255V probably benign Het
Cdhr1 A T 14: 36,803,502 (GRCm39) S525T probably benign Het
Col24a1 T C 3: 145,019,901 (GRCm39) Y91H probably benign Het
Cryba1 C A 11: 77,613,434 (GRCm39) probably null Het
Csmd2 G A 4: 128,313,366 (GRCm39) E1348K Het
Dcst1 A G 3: 89,260,068 (GRCm39) L592P probably damaging Het
Dspp A T 5: 104,323,259 (GRCm39) N134I probably damaging Het
Eif4g3 T C 4: 137,873,665 (GRCm39) V535A probably benign Het
Erc1 T C 6: 119,690,732 (GRCm39) E847G possibly damaging Het
Fancc A G 13: 63,508,056 (GRCm39) S160P possibly damaging Het
Fndc9 C T 11: 46,129,138 (GRCm39) A219V probably damaging Het
Ifitm1 G A 7: 140,548,282 (GRCm39) W38* probably null Het
Iqch A G 9: 63,329,002 (GRCm39) probably null Het
Krt9 T C 11: 100,083,522 (GRCm39) R170G possibly damaging Het
Lama4 T C 10: 38,902,747 (GRCm39) probably null Het
Lrrc18 A G 14: 32,730,973 (GRCm39) K171E probably damaging Het
Magi1 A G 6: 93,659,927 (GRCm39) S1007P probably benign Het
Muc16 T A 9: 18,549,789 (GRCm39) L5501F possibly damaging Het
Nrxn2 A G 19: 6,581,736 (GRCm39) N1557S probably benign Het
Or5g25 A T 2: 85,477,794 (GRCm39) Y290* probably null Het
Ovgp1 A G 3: 105,894,110 (GRCm39) T628A unknown Het
Pld5 A T 1: 175,872,480 (GRCm39) L219Q probably damaging Het
Rabggta G A 14: 55,956,969 (GRCm39) T273I probably benign Het
Rnf208 A G 2: 25,133,912 (GRCm39) D202G probably damaging Het
Sacs A G 14: 61,441,040 (GRCm39) N1029D not run Het
Sema6b T A 17: 56,438,555 (GRCm39) I114F probably damaging Het
Sgpp1 A G 12: 75,769,451 (GRCm39) I239T probably damaging Het
Slc12a3 A G 8: 95,071,515 (GRCm39) N638S probably damaging Het
Slc39a11 T C 11: 113,482,781 (GRCm39) probably null Het
Smc3 T C 19: 53,629,390 (GRCm39) S948P probably benign Het
Snx24 T A 18: 53,522,623 (GRCm39) H159Q probably benign Het
Sycp2 G T 2: 178,022,651 (GRCm39) N493K probably damaging Het
Tiam2 A G 17: 3,559,685 (GRCm39) D1242G probably damaging Het
Triobp G T 15: 78,858,204 (GRCm39) R1268S probably benign Het
Wdr12 T C 1: 60,136,753 (GRCm39) probably benign Het
Xirp2 T A 2: 67,340,325 (GRCm39) S855R probably benign Het
Zscan20 T A 4: 128,479,599 (GRCm39) H964L probably damaging 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
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
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'- GCATCATTTGGAAACTGCCTG -3'
(R):5'- AGGTGGTTGTAAGCCATTCAG -3'

Sequencing Primer
(F):5'- GCTGCCAGCCTTTACTACAG -3'
(R):5'- AAGGTTGATCTTGGCACTCTC -3'
Posted On 2019-11-26