Incidental Mutation 'IGL03296:Ddx43'
ID416098
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: 0.193) question?
Stock #IGL03296
Quality Score
Status
Chromosome9
Chromosomal Location78395777-78423587 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 78399098 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113367]
Predicted Effect probably null
Transcript: ENSMUST00000113367
SMART Domains Protein: ENSMUSP00000108994
Gene: ENSMUSG00000070291

DomainStartEndE-ValueType
KH 65 132 3.54e-8 SMART
DEXDc 259 462 5.23e-57 SMART
HELICc 499 580 1.18e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171096
SMART Domains Protein: ENSMUSP00000129655
Gene: ENSMUSG00000090724

DomainStartEndE-ValueType
low complexity region 23 57 N/A INTRINSIC
low complexity region 65 78 N/A INTRINSIC
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T C 17: 43,321,153 probably benign Het
Arhgef26 A G 3: 62,423,505 T547A probably damaging Het
Cdc14a T A 3: 116,297,158 H375L probably benign Het
Dennd6a T C 14: 26,616,960 probably null Het
Dock4 A T 12: 40,733,257 E730V possibly damaging Het
Gpr55 A G 1: 85,941,031 L276S probably damaging Het
Grid1 T C 14: 35,580,567 F930L possibly damaging Het
Inf2 C T 12: 112,604,208 Q394* probably null Het
Ints11 T C 4: 155,885,323 probably null Het
Kcnd2 T C 6: 21,714,209 V397A probably damaging Het
Lmntd1 A G 6: 145,413,477 F316L probably benign Het
Loxl4 A T 19: 42,598,823 probably benign Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mindy4 T C 6: 55,297,753 probably null Het
Mybpc2 A T 7: 44,506,884 I835N probably damaging Het
Myo5a T C 9: 75,116,202 I15T probably damaging Het
Nfkb2 A T 19: 46,309,928 D557V probably damaging Het
Olfr743 A T 14: 50,533,945 I178L possibly damaging Het
Pdk3 T C X: 93,831,897 Y19C probably damaging Het
Pdpr G T 8: 111,114,798 V221F probably damaging Het
Rab6a T C 7: 100,634,724 Y128H probably benign Het
Rars A T 11: 35,816,696 Y429* probably null Het
Rsl24d1 T C 9: 73,117,947 probably null Het
Slc7a9 T C 7: 35,452,427 F49S probably damaging Het
St14 C T 9: 31,108,712 E34K probably damaging Het
Tcp10b A G 17: 13,073,556 T289A probably damaging Het
Tenm2 T C 11: 36,052,025 probably null Het
Tshz3 A T 7: 36,771,336 T917S probably damaging Het
Vrtn T A 12: 84,648,848 I124N probably damaging Het
Vwa8 A G 14: 79,183,100 E1747G probably damaging Het
Wdr33 A T 18: 31,827,391 Q36L probably benign Het
Xpo5 C T 17: 46,221,394 R452* probably null Het
Zdhhc8 A T 16: 18,226,723 L311Q possibly damaging Het
Other mutations in Ddx43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02219:Ddx43 APN 9 78416719 missense probably damaging 1.00
IGL02325:Ddx43 APN 9 78402490 splice site probably benign
IGL03197:Ddx43 APN 9 78418120 missense probably benign 0.03
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 On2016-08-02