Incidental Mutation 'IGL02030:Ddx17'
ID184334
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 #IGL02030
Quality Score
Status
Chromosome15
Chromosomal Location79527736-79546741 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79530376 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 530 (D530G)
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 benign
Transcript: ENSMUST00000054014
AA Change: D532G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065
AA Change: D532G

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 benign
Transcript: ENSMUST00000229877
AA Change: D530G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231053
Meta Mutation Damage Score 0.0578 question?
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,857 D532G probably benign Het
Adam29 C T 8: 55,872,122 M432I probably benign Het
Cbs A G 17: 31,625,489 probably null Het
Ccer1 A G 10: 97,693,610 Y45C unknown Het
Clu G A 14: 65,975,791 G209S probably benign Het
Ddx4 T C 13: 112,624,777 probably benign Het
Fry C T 5: 150,471,618 probably benign Het
Fut10 C T 8: 31,235,978 Q254* probably null Het
Gucy2e A G 11: 69,223,816 F1002S probably damaging Het
Hsd3b6 T C 3: 98,806,173 Y270C probably benign Het
Jup A G 11: 100,376,991 I502T probably damaging Het
Lrrc71 T A 3: 87,745,224 probably null Het
Mei1 T C 15: 82,115,743 V1127A probably benign Het
Ncstn A T 1: 172,072,457 probably benign Het
Nin T C 12: 70,045,268 R756G probably damaging Het
Notch2 C A 3: 98,099,421 probably null Het
Oacyl T C 18: 65,737,910 V394A probably damaging Het
Olfr1444 T C 19: 12,862,435 F220S probably benign Het
Olfr348 A G 2: 36,787,398 Y291C probably damaging Het
Olfr524 A G 7: 140,202,632 I46T probably damaging Het
Parn A G 16: 13,664,650 probably null Het
Rspo3 T G 10: 29,500,048 E173A probably damaging Het
Rusc2 T A 4: 43,416,095 V467E possibly damaging Het
Sema7a G A 9: 57,955,140 E209K possibly damaging Het
Uchl4 T C 9: 64,235,629 S131P probably benign Het
Usp54 T C 14: 20,565,946 I769V probably benign Het
Xirp2 T C 2: 67,508,981 M522T probably benign Het
Other mutations in Ddx17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02904:Ddx17 APN 15 79530437 nonsense probably null
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 On2014-05-07