Incidental Mutation 'R0556:Ddx54'
ID 45557
Institutional Source Beutler Lab
Gene Symbol Ddx54
Ensembl Gene ENSMUSG00000029599
Gene Name DEAD box helicase 54
Synonyms DP97, 2410015A15Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 54, APR-5
MMRRC Submission 038748-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0556 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 120751182-120766657 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 120757719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031598]
AlphaFold Q8K4L0
Predicted Effect probably benign
Transcript: ENSMUST00000031598
SMART Domains Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599

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 noncoding transcript
Transcript: ENSMUST00000201616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202672
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 98% (64/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T A 17: 15,164,213 (GRCm39) Y113* probably null Het
4930402F06Rik T C 2: 35,280,482 (GRCm39) probably benign Het
Acad11 A G 9: 103,992,501 (GRCm39) E481G probably damaging Het
Aldh1a1 A T 19: 20,611,842 (GRCm39) N389Y probably damaging Het
Bmpr2 C T 1: 59,854,487 (GRCm39) T112M probably damaging Het
Bms1 A G 6: 118,390,140 (GRCm39) Y227H probably damaging Het
Cab39 A G 1: 85,763,212 (GRCm39) probably benign Het
Ccn3 A T 15: 54,612,563 (GRCm39) T191S probably damaging Het
Ccno T C 13: 113,124,820 (GRCm39) probably null Het
Cct6b A G 11: 82,610,270 (GRCm39) probably benign Het
Cd101 A C 3: 100,927,970 (GRCm39) I37S probably damaging Het
Ces1a T C 8: 93,771,740 (GRCm39) H19R probably benign Het
Clec16a A G 16: 10,456,649 (GRCm39) probably null Het
Cntnap1 T C 11: 101,074,822 (GRCm39) F831S probably benign Het
Col24a1 A G 3: 145,020,489 (GRCm39) T287A possibly damaging Het
Colgalt2 C T 1: 152,347,564 (GRCm39) probably benign Het
Cpd A G 11: 76,693,171 (GRCm39) probably benign Het
Cyp3a16 C A 5: 145,392,790 (GRCm39) M145I probably benign Het
Dock7 A T 4: 98,833,426 (GRCm39) L1925Q probably damaging Het
Eif4g1 A T 16: 20,494,544 (GRCm39) Y127F probably damaging Het
Erap1 T A 13: 74,808,444 (GRCm39) V52E probably damaging Het
Fbxo6 G T 4: 148,230,632 (GRCm39) T210N probably damaging Het
Fcgbpl1 C T 7: 27,858,803 (GRCm39) H2308Y probably benign Het
Garre1 T C 7: 33,939,222 (GRCm39) T222A probably damaging Het
Gnat3 T G 5: 18,224,596 (GRCm39) V332G probably damaging Het
Ift22 T A 5: 136,940,145 (GRCm39) probably null Het
Igkv4-71 A G 6: 69,220,171 (GRCm39) C109R probably damaging Het
Igsf10 A G 3: 59,236,296 (GRCm39) L1295P probably benign Het
Itga4 T C 2: 79,155,983 (GRCm39) I983T probably benign Het
Lhcgr A T 17: 89,079,491 (GRCm39) V65D probably damaging Het
Mau2 G C 8: 70,495,082 (GRCm39) T85R probably damaging Het
Morc2a T C 11: 3,631,809 (GRCm39) probably null Het
Morc2b A T 17: 33,356,812 (GRCm39) M320K probably benign Het
Ms4a18 C A 19: 10,991,065 (GRCm39) V10F probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Mtor A G 4: 148,553,837 (GRCm39) E812G possibly damaging Het
Myo1h A G 5: 114,457,852 (GRCm39) Y121C probably damaging Het
Or11g27 T C 14: 50,771,381 (GRCm39) S171P probably benign Het
Or4a66 A C 2: 88,531,115 (GRCm39) V186G possibly damaging Het
Or8b53 A T 9: 38,667,041 (GRCm39) D19V possibly damaging Het
Plcd3 G A 11: 102,968,632 (GRCm39) T353M probably damaging Het
Pnpla7 T A 2: 24,942,313 (GRCm39) probably null Het
Ppp1r12b T A 1: 134,705,060 (GRCm39) Y876F probably damaging Het
Prelid2 T A 18: 42,084,245 (GRCm39) probably benign Het
Prickle1 A G 15: 93,398,662 (GRCm39) L722P probably benign Het
Prr12 A G 7: 44,680,093 (GRCm39) L1887P unknown Het
Ptk2b A G 14: 66,409,593 (GRCm39) L481P probably damaging Het
Rgl3 T A 9: 21,887,140 (GRCm39) K531* probably null Het
Sacs A G 14: 61,421,407 (GRCm39) I115V probably damaging Het
Septin3 G T 15: 82,167,966 (GRCm39) probably benign Het
Simc1 T C 13: 54,673,160 (GRCm39) S503P probably benign Het
Stard9 T C 2: 120,529,404 (GRCm39) V1887A probably benign Het
Synj2 T A 17: 6,088,230 (GRCm39) L1427* probably null Het
Taar2 A G 10: 23,816,793 (GRCm39) D111G probably damaging Het
Tlr5 A G 1: 182,801,716 (GRCm39) N340S probably damaging Het
Tmco2 A G 4: 120,966,314 (GRCm39) L14P probably damaging Het
Tnik A T 3: 28,679,367 (GRCm39) D746V possibly damaging Het
Trip11 C A 12: 101,850,777 (GRCm39) E811* probably null Het
Ttll9 T C 2: 152,815,526 (GRCm39) probably null Het
Uchl1 A G 5: 66,839,824 (GRCm39) E122G probably benign Het
Vwa3b C A 1: 37,203,566 (GRCm39) probably benign Het
Zan T C 5: 137,452,482 (GRCm39) N1533S unknown Het
Zfp687 G T 3: 94,917,719 (GRCm39) D684E probably damaging Het
Other mutations in Ddx54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Ddx54 APN 5 120,761,875 (GRCm39) critical splice donor site probably null
IGL01324:Ddx54 APN 5 120,761,703 (GRCm39) missense probably benign 0.00
IGL01399:Ddx54 APN 5 120,761,968 (GRCm39) nonsense probably null
IGL02052:Ddx54 APN 5 120,763,783 (GRCm39) missense possibly damaging 0.93
IGL02095:Ddx54 APN 5 120,761,856 (GRCm39) missense possibly damaging 0.81
IGL02370:Ddx54 APN 5 120,757,852 (GRCm39) missense probably damaging 1.00
IGL02861:Ddx54 APN 5 120,756,195 (GRCm39) splice site probably benign
R0521:Ddx54 UTSW 5 120,764,927 (GRCm39) missense probably benign 0.00
R0723:Ddx54 UTSW 5 120,761,703 (GRCm39) missense probably benign 0.00
R2968:Ddx54 UTSW 5 120,756,694 (GRCm39) missense probably damaging 1.00
R4622:Ddx54 UTSW 5 120,764,488 (GRCm39) missense probably damaging 1.00
R4853:Ddx54 UTSW 5 120,761,694 (GRCm39) missense probably benign 0.12
R5168:Ddx54 UTSW 5 120,755,097 (GRCm39) missense probably benign 0.00
R5169:Ddx54 UTSW 5 120,761,328 (GRCm39) missense probably damaging 1.00
R5424:Ddx54 UTSW 5 120,757,926 (GRCm39) critical splice donor site probably null
R5489:Ddx54 UTSW 5 120,762,786 (GRCm39) missense probably benign
R5956:Ddx54 UTSW 5 120,764,432 (GRCm39) unclassified probably benign
R5999:Ddx54 UTSW 5 120,761,645 (GRCm39) missense probably benign 0.00
R6220:Ddx54 UTSW 5 120,758,754 (GRCm39) missense probably benign 0.09
R6413:Ddx54 UTSW 5 120,765,127 (GRCm39) missense probably benign
R6477:Ddx54 UTSW 5 120,759,843 (GRCm39) missense probably damaging 1.00
R6702:Ddx54 UTSW 5 120,764,568 (GRCm39) missense possibly damaging 0.52
R6783:Ddx54 UTSW 5 120,756,779 (GRCm39) nonsense probably null
R6865:Ddx54 UTSW 5 120,759,892 (GRCm39) critical splice donor site probably null
R7258:Ddx54 UTSW 5 120,758,812 (GRCm39) missense probably damaging 1.00
R7260:Ddx54 UTSW 5 120,764,985 (GRCm39) missense probably benign 0.21
R7488:Ddx54 UTSW 5 120,762,789 (GRCm39) missense probably benign
R7887:Ddx54 UTSW 5 120,765,268 (GRCm39) missense probably damaging 1.00
R8179:Ddx54 UTSW 5 120,765,167 (GRCm39) missense probably benign
R8303:Ddx54 UTSW 5 120,759,855 (GRCm39) missense probably damaging 1.00
R8781:Ddx54 UTSW 5 120,751,217 (GRCm39) missense probably benign 0.37
R9451:Ddx54 UTSW 5 120,765,209 (GRCm39) missense probably damaging 1.00
R9731:Ddx54 UTSW 5 120,758,807 (GRCm39) missense probably benign 0.00
R9732:Ddx54 UTSW 5 120,763,911 (GRCm39) critical splice donor site probably null
R9760:Ddx54 UTSW 5 120,761,672 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AGCTGGTAATTCCAAGCTGAGTCAC -3'
(R):5'- GCTTCAAGTTCATCTCCACAGCCAC -3'

Sequencing Primer
(F):5'- CTTGACCAGGTGTCTCACAGTAAG -3'
(R):5'- GCCACATGCACCAGACG -3'
Posted On 2013-06-11