Incidental Mutation 'IGL02219:Ddx43'
ID285054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx43
Ensembl Gene ENSMUSG00000070291
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 43
SynonymsENSMUSG00000070291, OTTMUSG00000019690
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.166) question?
Stock #IGL02219
Quality Score
Status
Chromosome9
Chromosomal Location78395777-78423587 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78416719 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 444 (M444K)
Ref Sequence ENSEMBL: ENSMUSP00000108994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113367]
Predicted Effect probably damaging
Transcript: ENSMUST00000113367
AA Change: M444K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108994
Gene: ENSMUSG00000070291
AA Change: M444K

DomainStartEndE-ValueType
KH 65 132 3.54e-8 SMART
DEXDc 259 462 5.23e-57 SMART
HELICc 499 580 1.18e-32 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T C 7: 28,154,635 Y1675H probably damaging Het
A730013G03Rik A T 1: 192,833,383 noncoding transcript Het
Abcb10 G A 8: 123,954,427 H677Y probably benign Het
Ager T C 17: 34,600,120 V314A probably damaging Het
Asxl3 A G 18: 22,453,626 M158V possibly damaging Het
Atp1a2 A T 1: 172,279,718 M745K probably damaging Het
Atp1a2 G A 1: 172,279,731 Q741* probably null Het
Begain A G 12: 109,033,730 S577P probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Camk2b A G 11: 5,976,872 L497P possibly damaging Het
Cand2 T A 6: 115,803,812 I1219N probably damaging Het
Cckbr T A 7: 105,434,048 Y153N probably damaging Het
Cep250 T G 2: 155,991,594 V1812G probably benign Het
Cyp2c39 A T 19: 39,568,199 probably benign Het
Dnm1 A T 2: 32,323,450 M506K probably benign Het
Duox2 A T 2: 122,294,664 H352Q probably benign Het
Fsip2 A G 2: 82,977,830 T1498A probably benign Het
Gcn1l1 A T 5: 115,613,767 Q2067L possibly damaging Het
Get4 G T 5: 139,263,629 probably null Het
Gm6370 G A 5: 146,493,643 A213T possibly damaging Het
Gpr135 T C 12: 72,070,273 Y240C probably damaging Het
Gstm5 T A 3: 107,898,031 L145Q probably damaging Het
Hoxb3 T C 11: 96,346,160 Y355H probably damaging Het
Hsf2 A C 10: 57,496,274 K108Q probably damaging Het
Kdm3a T C 6: 71,600,734 N694S probably benign Het
Lrpap1 G A 5: 35,096,067 probably benign Het
Mapk8ip3 T C 17: 24,899,558 T1162A probably damaging Het
Mettl14 T C 3: 123,374,891 probably benign Het
Mrgprx1 T C 7: 48,021,729 Y90C probably benign Het
Mybpc3 A T 2: 91,121,023 probably null Het
Nup88 C T 11: 70,969,692 G87D probably benign Het
Olfr1153 A G 2: 87,896,973 Y258C possibly damaging Het
Olfr1502 C T 19: 13,861,823 T10M probably damaging Het
Olfr39 A T 9: 20,286,460 T254S probably benign Het
Pan2 G A 10: 128,320,352 E1133K probably benign Het
Pcsk2 T C 2: 143,793,125 S307P probably damaging Het
Pdgfa C T 5: 138,986,195 V150I probably damaging Het
Phf12 T C 11: 77,984,196 C83R probably damaging Het
Pla2g2c A G 4: 138,736,008 Y71C probably damaging Het
Pou2f2 T A 7: 25,097,682 Q218L probably damaging Het
Prl8a9 C T 13: 27,559,370 V151I possibly damaging Het
Prop1 T C 11: 50,952,084 D92G probably damaging Het
Rnf13 A G 3: 57,796,223 Y116C probably damaging Het
Scrib T A 15: 76,065,036 K383* probably null Het
Slc44a5 T C 3: 154,239,159 Y138H possibly damaging Het
Stra6 G A 9: 58,140,469 V108M probably benign Het
Trove2 A G 1: 143,761,275 C400R possibly damaging Het
Tspan10 G T 11: 120,446,372 A323S probably benign Het
Ttc22 T A 4: 106,638,490 V347D probably damaging Het
Ugt1a10 C T 1: 88,056,058 L193F probably benign Het
Vps13d G T 4: 145,168,146 H457N probably benign Het
Vrtn A G 12: 84,648,833 Y119C probably damaging Het
Xpnpep3 T C 15: 81,427,456 F121S probably damaging Het
Other mutations in Ddx43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Ddx43 APN 9 78402490 splice site probably benign
IGL03197:Ddx43 APN 9 78418120 missense probably benign 0.03
IGL03296:Ddx43 APN 9 78399098 critical splice donor site probably null
R0571:Ddx43 UTSW 9 78413863 missense possibly damaging 0.63
R1567:Ddx43 UTSW 9 78416709 missense probably damaging 0.99
R2061:Ddx43 UTSW 9 78396104 missense probably benign 0.02
R2965:Ddx43 UTSW 9 78406379 nonsense probably null
R2966:Ddx43 UTSW 9 78406379 nonsense probably null
R5894:Ddx43 UTSW 9 78416734 missense probably damaging 1.00
R6013:Ddx43 UTSW 9 78414285 missense probably damaging 1.00
R6414:Ddx43 UTSW 9 78400936 missense probably benign 0.05
R7158:Ddx43 UTSW 9 78412219 missense probably damaging 1.00
R7403:Ddx43 UTSW 9 78413851 missense probably damaging 1.00
R7611:Ddx43 UTSW 9 78402353 missense probably benign
Posted On2015-04-16