Incidental Mutation 'IGL01399:Ddx54'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx54
Ensembl Gene ENSMUSG00000029599
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 54
Synonyms2410015A15Rik, APR-5, DP97
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01399
Quality Score
Chromosomal Location120612739-120628592 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 120623903 bp
Amino Acid Change Glutamic Acid to Stop codon at position 554 (E554*)
Ref Sequence ENSEMBL: ENSMUSP00000031598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031598] [ENSMUST00000177908]
Predicted Effect probably null
Transcript: ENSMUST00000031598
AA Change: E554*
SMART Domains Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
AA Change: E554*

low complexity region 4 15 N/A INTRINSIC
Blast:DEXDc 59 101 9e-19 BLAST
DEXDc 114 313 3.5e-58 SMART
HELICc 347 432 7.86e-20 SMART
low complexity region 628 646 N/A INTRINSIC
DBP10CT 706 766 1.45e-25 SMART
low complexity region 778 801 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177908
SMART Domains Protein: ENSMUSP00000137554
Gene: ENSMUSG00000094282

Pfam:DUF4200 35 151 2.1e-25 PFAM
coiled coil region 185 231 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202672
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. 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. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Asic4 T A 1: 75,469,146 N206K possibly damaging Het
Bsn A G 9: 108,107,187 Y3223H unknown Het
Btaf1 C T 19: 37,000,170 R1463* probably null Het
Ccdc146 A G 5: 21,294,613 I857T possibly damaging Het
Ccnf G A 17: 24,225,012 S594L probably damaging Het
Chd5 T C 4: 152,356,687 W195R probably damaging Het
Cntn1 A G 15: 92,305,144 Y769C probably damaging Het
Cwc22 T C 2: 77,917,064 E435G probably benign Het
Dct A G 14: 118,036,478 F339S probably damaging Het
Dock3 G T 9: 106,993,471 S581R probably benign Het
Dst A G 1: 34,117,517 H176R probably benign Het
Emc8 A G 8: 120,659,006 M123T probably damaging Het
Evc T A 5: 37,333,013 D55V probably damaging Het
Gm5424 A G 10: 62,071,493 noncoding transcript Het
Gpr149 A T 3: 62,604,431 L49Q probably damaging Het
Hcfc1 C T X: 73,949,909 V1217I possibly damaging Het
Hoxa4 G T 6: 52,190,413 Q263K probably damaging Het
Ift172 T C 5: 31,266,248 E790G probably benign Het
Ipp A G 4: 116,515,187 N138D probably damaging Het
Isg20 A T 7: 78,920,088 T158S possibly damaging Het
Klf17 A G 4: 117,759,159 F325S probably damaging Het
Lilrb4a T C 10: 51,494,065 L233P probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Myh9 A T 15: 77,767,270 L1544Q probably damaging Het
Nexmif T A X: 104,087,180 D377V probably damaging Het
Nobox T C 6: 43,304,038 T501A probably benign Het
Noc3l T C 19: 38,815,655 D93G possibly damaging Het
Nrcam G T 12: 44,575,884 A938S probably benign Het
Nup205 T C 6: 35,219,689 I1120T possibly damaging Het
Olfr1446 A T 19: 12,890,439 M46K probably benign Het
Olfr186 C T 16: 59,027,266 V214I probably benign Het
Ptpn3 T C 4: 57,225,775 D480G probably benign Het
Selenof C T 3: 144,596,908 T148I probably damaging Het
Sgce C A 6: 4,746,997 G31V probably damaging Het
Slc35e1 C A 8: 72,484,690 A325S probably damaging Het
Slc4a4 A G 5: 89,228,935 D1016G probably damaging Het
Synj2 T G 17: 6,009,771 C149W probably damaging Het
Tecpr1 A G 5: 144,208,593 probably null Het
Utp20 A G 10: 88,758,302 probably null Het
Vmn2r63 T A 7: 42,904,119 K571M probably damaging Het
Wdr53 A G 16: 32,251,900 D21G possibly damaging Het
Zbtb3 T C 19: 8,803,455 L144S probably damaging Het
Zfp185 T A X: 73,000,048 S154T probably damaging Het
Other mutations in Ddx54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Ddx54 APN 5 120623810 critical splice donor site probably null
IGL01324:Ddx54 APN 5 120623638 missense probably benign 0.00
IGL02052:Ddx54 APN 5 120625718 missense possibly damaging 0.93
IGL02095:Ddx54 APN 5 120623791 missense possibly damaging 0.81
IGL02370:Ddx54 APN 5 120619787 missense probably damaging 1.00
IGL02861:Ddx54 APN 5 120618130 splice site probably benign
R0521:Ddx54 UTSW 5 120626862 missense probably benign 0.00
R0556:Ddx54 UTSW 5 120619654 splice site probably benign
R0723:Ddx54 UTSW 5 120623638 missense probably benign 0.00
R2968:Ddx54 UTSW 5 120618629 missense probably damaging 1.00
R4622:Ddx54 UTSW 5 120626423 missense probably damaging 1.00
R4853:Ddx54 UTSW 5 120623629 missense probably benign 0.12
R5168:Ddx54 UTSW 5 120617032 missense probably benign 0.00
R5169:Ddx54 UTSW 5 120623263 missense probably damaging 1.00
R5424:Ddx54 UTSW 5 120619861 critical splice donor site probably null
R5489:Ddx54 UTSW 5 120624721 missense probably benign
R5956:Ddx54 UTSW 5 120626367 unclassified probably benign
R5999:Ddx54 UTSW 5 120623580 missense probably benign 0.00
R6220:Ddx54 UTSW 5 120620689 missense probably benign 0.09
R6413:Ddx54 UTSW 5 120627062 missense probably benign
R6477:Ddx54 UTSW 5 120621778 missense probably damaging 1.00
R6702:Ddx54 UTSW 5 120626503 missense possibly damaging 0.52
R6783:Ddx54 UTSW 5 120618714 nonsense probably null
R6865:Ddx54 UTSW 5 120621827 critical splice donor site probably null
R7258:Ddx54 UTSW 5 120620747 missense probably damaging 1.00
R7260:Ddx54 UTSW 5 120626920 missense probably benign 0.21
R7488:Ddx54 UTSW 5 120624724 missense probably benign
R7887:Ddx54 UTSW 5 120627203 missense probably damaging 1.00
R8179:Ddx54 UTSW 5 120627102 missense probably benign
R8303:Ddx54 UTSW 5 120621790 missense probably damaging 1.00
Posted On2013-11-05