Incidental Mutation 'IGL02832:Ddx1'
ID361490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx1
Ensembl Gene ENSMUSG00000037149
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02832
Quality Score
Status
Chromosome12
Chromosomal Location13216973-13249213 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 13227317 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 528 (Q528*)
Ref Sequence ENSEMBL: ENSMUSP00000065987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071103]
Predicted Effect probably null
Transcript: ENSMUST00000071103
AA Change: Q528*
SMART Domains Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149
AA Change: Q528*

DomainStartEndE-ValueType
DEXDc 21 444 1.95e-47 SMART
SPRY 130 246 1.91e-34 SMART
HELICc 520 610 8.28e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221028
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 G A 6: 92,807,175 T985M probably damaging Het
Alpk1 A G 3: 127,679,943 S804P possibly damaging Het
Ap3b1 A G 13: 94,528,327 I925V unknown Het
Cep135 T A 5: 76,640,949 S1130T probably damaging Het
Cers3 A T 7: 66,781,825 M183L probably benign Het
Col5a1 A G 2: 27,952,340 E409G unknown Het
Cyp4a32 G T 4: 115,614,621 V410F probably damaging Het
Dio2 G A 12: 90,729,404 probably benign Het
Dnah9 G T 11: 66,040,346 A2008E probably damaging Het
Dnajc2 A G 5: 21,760,410 V457A probably benign Het
Dytn T C 1: 63,643,373 T372A probably benign Het
Fam135a T C 1: 24,028,633 I152V probably benign Het
Fmnl2 C T 2: 52,858,249 A36V possibly damaging Het
Galnt7 G A 8: 57,552,497 T234I probably damaging Het
Gba A C 3: 89,203,502 I6L probably benign Het
Gja10 A G 4: 32,602,147 V79A probably damaging Het
Gpd2 T A 2: 57,338,979 V265E probably damaging Het
Gpld1 T C 13: 24,952,878 Y60H probably damaging Het
Heatr9 A G 11: 83,518,846 probably benign Het
Hist3h2ba A G 11: 58,949,043 K35R probably benign Het
Krt75 T A 15: 101,568,073 D419V probably benign Het
Lrig3 A T 10: 126,007,002 I599F probably benign Het
Lrp4 A G 2: 91,511,580 D1846G probably damaging Het
Mamdc2 C T 19: 23,303,851 A653T probably damaging Het
Myo7a A T 7: 98,091,020 probably null Het
Notch2 A G 3: 98,137,373 D1537G probably benign Het
Olfr370 G A 8: 83,541,471 C109Y probably damaging Het
Olfr559 G T 7: 102,723,651 H280N probably benign Het
Olfr608 A T 7: 103,470,698 I220L probably benign Het
Papss1 A C 3: 131,582,519 D84A probably damaging Het
Pcdhb16 T A 18: 37,478,474 D162E probably damaging Het
Rab11fip1 C T 8: 27,152,812 R653Q possibly damaging Het
Rap1gap2 A T 11: 74,412,455 probably benign Het
Rasal2 T C 1: 157,157,207 D990G probably damaging Het
Rnf32 T C 5: 29,205,703 probably null Het
Rp1 T C 1: 4,349,713 D392G probably benign Het
Scn9a T C 2: 66,568,029 D79G probably damaging Het
Selenon A T 4: 134,540,908 V438D probably damaging Het
Slc47a1 G A 11: 61,363,413 H158Y probably benign Het
Slc5a12 A T 2: 110,640,815 E463D probably benign Het
Taf2 C T 15: 55,016,563 V1126M probably benign Het
Tas2r143 G T 6: 42,400,325 V30L possibly damaging Het
Tcea3 G A 4: 136,268,113 V256M probably damaging Het
Thy1 A G 9: 44,046,814 T80A probably benign Het
Tmem9 A G 1: 136,019,731 N47S probably damaging Het
Tmprss11g T C 5: 86,497,269 Q101R probably benign Het
Trim66 C T 7: 109,460,497 C792Y probably damaging Het
Tstd2 A T 4: 46,124,949 M226K probably damaging Het
Utrn G T 10: 12,738,193 T378K possibly damaging Het
Vmn2r23 A G 6: 123,704,396 I88V probably benign Het
Other mutations in Ddx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Ddx1 APN 12 13227459 splice site probably benign
IGL00725:Ddx1 APN 12 13245690 missense probably damaging 1.00
IGL00958:Ddx1 APN 12 13240848 splice site probably null
IGL01786:Ddx1 APN 12 13229136 missense probably benign
IGL02983:Ddx1 APN 12 13223862 missense probably damaging 1.00
R0201:Ddx1 UTSW 12 13223808 missense probably damaging 1.00
R0931:Ddx1 UTSW 12 13237817 splice site probably benign
R1434:Ddx1 UTSW 12 13237231 missense probably benign 0.01
R1558:Ddx1 UTSW 12 13239541 missense probably damaging 1.00
R1673:Ddx1 UTSW 12 13244966 critical splice donor site probably null
R1854:Ddx1 UTSW 12 13229331 missense probably benign 0.19
R2910:Ddx1 UTSW 12 13231440 splice site probably null
R2911:Ddx1 UTSW 12 13231440 splice site probably null
R4181:Ddx1 UTSW 12 13231503 nonsense probably null
R4182:Ddx1 UTSW 12 13231503 nonsense probably null
R4183:Ddx1 UTSW 12 13231503 nonsense probably null
R4231:Ddx1 UTSW 12 13223857 missense possibly damaging 0.74
R4234:Ddx1 UTSW 12 13223857 missense possibly damaging 0.74
R4235:Ddx1 UTSW 12 13223857 missense possibly damaging 0.74
R4243:Ddx1 UTSW 12 13240909 nonsense probably null
R4717:Ddx1 UTSW 12 13240887 missense probably damaging 1.00
R4821:Ddx1 UTSW 12 13239147 missense probably damaging 1.00
R5032:Ddx1 UTSW 12 13223992 missense probably damaging 1.00
R5082:Ddx1 UTSW 12 13220435 nonsense probably null
R5528:Ddx1 UTSW 12 13229294 missense probably damaging 1.00
R5997:Ddx1 UTSW 12 13237799 missense probably damaging 1.00
R6398:Ddx1 UTSW 12 13245720 missense probably damaging 1.00
R6891:Ddx1 UTSW 12 13236095 missense probably benign 0.25
R7085:Ddx1 UTSW 12 13229355 missense probably damaging 1.00
R7125:Ddx1 UTSW 12 13243863 missense probably benign 0.18
R7307:Ddx1 UTSW 12 13223959 missense probably damaging 1.00
R7388:Ddx1 UTSW 12 13225455 missense probably null 1.00
R7393:Ddx1 UTSW 12 13230353 missense probably benign 0.03
R7460:Ddx1 UTSW 12 13231439 splice site probably null
X0011:Ddx1 UTSW 12 13229415 missense probably damaging 1.00
X0028:Ddx1 UTSW 12 13243866 missense probably benign 0.00
Z1177:Ddx1 UTSW 12 13229259 missense probably damaging 0.96
Posted On2015-12-18