Incidental Mutation 'IGL02052:Ddx54'
ID185116
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 #IGL02052
Quality Score
Status
Chromosome5
Chromosomal Location120612739-120628592 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120625718 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 644 (V644A)
Ref Sequence ENSEMBL: ENSMUSP00000031598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031598] [ENSMUST00000177908]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031598
AA Change: V644A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
AA Change: V644A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef37 C T 18: 61,499,768 V533M probably damaging Het
Bicd2 A G 13: 49,379,189 D343G possibly damaging Het
Ccl26 C T 5: 135,563,339 S48N possibly damaging Het
Cdkn1b A T 6: 134,921,007 R30* probably null Het
Cds1 G T 5: 101,814,472 V318L probably benign Het
Ceacam11 A G 7: 17,973,623 S111G probably benign Het
Cntn1 A C 15: 92,291,703 I636L possibly damaging Het
Cog2 G A 8: 124,542,888 probably null Het
Cyp2g1 G A 7: 26,814,294 probably benign Het
Dnah1 T C 14: 31,268,786 Q3192R probably damaging Het
Dyrk2 T G 10: 118,860,543 H270P probably damaging Het
Ephb6 A G 6: 41,613,322 T3A probably benign Het
Fam120a G A 13: 48,933,945 probably benign Het
Fam184a A G 10: 53,697,120 probably benign Het
Fmo1 A G 1: 162,850,060 probably null Het
Gaa A G 11: 119,284,195 Y874C possibly damaging Het
Gabrr1 T A 4: 33,152,567 I169N probably damaging Het
Gm13083 A C 4: 143,615,073 D24A probably benign Het
Gm13734 T C 2: 87,136,321 probably null Het
Gnb1 T C 4: 155,533,691 probably benign Het
Hecw2 G T 1: 53,926,511 F385L probably benign Het
Kif5a C T 10: 127,243,499 V277M probably damaging Het
Mogat2 A T 7: 99,238,564 M1K probably null Het
Mrgprx2 A T 7: 48,482,294 W259R possibly damaging Het
Nf1 T C 11: 79,412,727 L410S probably damaging Het
Ntn4 T G 10: 93,707,349 N312K probably damaging Het
Papss2 T C 19: 32,660,583 V365A possibly damaging Het
Pde4c A G 8: 70,748,413 N420S probably damaging Het
Plec C T 15: 76,180,341 R1911H probably damaging Het
Rnf19b A G 4: 129,071,820 H237R probably damaging Het
Slfn4 T C 11: 83,186,974 L196P possibly damaging Het
Steap2 G T 5: 5,673,586 F431L probably damaging Het
Tex15 A G 8: 33,582,465 E2680G probably benign Het
Tmprss15 A T 16: 79,087,506 I96N probably damaging Het
Trim34a T G 7: 104,247,831 V34G probably benign Het
Ttyh1 A G 7: 4,130,574 probably benign Het
Usp29 A C 7: 6,962,526 H456P probably benign Het
Wdfy1 A G 1: 79,714,944 S219P probably damaging Het
Zfp738 A T 13: 67,671,481 S117R possibly 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
IGL01399:Ddx54 APN 5 120623903 nonsense probably null
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
R7970:Ddx54 UTSW 5 120627203 missense probably damaging 1.00
Posted On2014-05-07