Incidental Mutation 'R8866:Ddx47'
ID 675927
Institutional Source Beutler Lab
Gene Symbol Ddx47
Ensembl Gene ENSMUSG00000030204
Gene Name DEAD box helicase 47
Synonyms 4930588A18Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 47
MMRRC Submission 068742-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R8866 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 134988575-135000739 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135000356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 451 (K451E)
Ref Sequence ENSEMBL: ENSMUSP00000032326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032326] [ENSMUST00000130851] [ENSMUST00000205244]
AlphaFold Q9CWX9
Predicted Effect probably benign
Transcript: ENSMUST00000032326
AA Change: K451E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204
AA Change: K451E

DomainStartEndE-ValueType
low complexity region 16 23 N/A INTRINSIC
DEXDc 43 241 6.38e-61 SMART
HELICc 277 358 8.21e-32 SMART
low complexity region 413 437 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130851
SMART Domains Protein: ENSMUSP00000115183
Gene: ENSMUSG00000030204

DomainStartEndE-ValueType
low complexity region 16 23 N/A INTRINSIC
Blast:DEXDc 30 59 9e-12 BLAST
Pfam:Helicase_C 99 138 2.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154558
SMART Domains Protein: ENSMUSP00000119231
Gene: ENSMUSG00000030204

DomainStartEndE-ValueType
low complexity region 13 20 N/A INTRINSIC
DEXDc 40 238 6.38e-61 SMART
HELICc 229 306 3.67e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155022
Predicted Effect probably benign
Transcript: ENSMUST00000204646
Predicted Effect probably benign
Transcript: ENSMUST00000205244
SMART Domains Protein: ENSMUSP00000145139
Gene: ENSMUSG00000030204

DomainStartEndE-ValueType
DEXDc 6 178 3e-15 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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 protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,914,511 (GRCm39) T38I probably benign Het
Arhgap1 G T 2: 91,499,744 (GRCm39) S293I probably benign Het
Arhgap45 C A 10: 79,853,750 (GRCm39) P88Q probably damaging Het
Atg9a A C 1: 75,161,867 (GRCm39) F560V probably damaging Het
Btaf1 T A 19: 36,935,901 (GRCm39) N230K probably benign Het
Ccne1 A C 7: 37,800,046 (GRCm39) H179Q probably benign Het
Dbr1 T A 9: 99,460,497 (GRCm39) L109* probably null Het
Dchs1 G T 7: 105,404,597 (GRCm39) N2648K probably benign Het
Dlgap1 A T 17: 70,823,435 (GRCm39) H140L probably damaging Het
Dnah11 T A 12: 118,156,107 (GRCm39) H181L probably benign Het
Dync1h1 T C 12: 110,602,333 (GRCm39) C2074R probably damaging Het
Ell2 A T 13: 75,917,793 (GRCm39) Q574H probably damaging Het
Eloa A C 4: 135,737,538 (GRCm39) probably null Het
Epha7 A G 4: 28,821,614 (GRCm39) I260V probably benign Het
Fbp2 T C 13: 62,989,709 (GRCm39) K199R probably benign Het
Fetub A T 16: 22,758,321 (GRCm39) E368V possibly damaging Het
Fsip2 A G 2: 82,810,521 (GRCm39) Q2280R probably benign Het
Fstl4 A G 11: 52,963,233 (GRCm39) E205G possibly damaging Het
Gm5592 A T 7: 40,938,246 (GRCm39) R509S possibly damaging Het
Gpld1 A G 13: 25,170,890 (GRCm39) T794A probably benign Het
Gsk3b A G 16: 38,004,900 (GRCm39) Y157C probably damaging Het
Hgs A G 11: 120,360,464 (GRCm39) N54S probably benign Het
Hydin G A 8: 111,308,779 (GRCm39) V4022M possibly damaging Het
Kank1 T C 19: 25,388,702 (GRCm39) S792P possibly damaging Het
Kctd4 A G 14: 76,200,465 (GRCm39) I145M probably benign Het
Klra5 A T 6: 129,880,533 (GRCm39) W212R probably damaging Het
Lrp6 A T 6: 134,445,785 (GRCm39) N1009K probably benign Het
Lrrc10 T A 10: 116,881,858 (GRCm39) N177K probably damaging Het
Lrrc39 T A 3: 116,363,790 (GRCm39) I121N probably damaging Het
Mov10l1 A T 15: 88,896,169 (GRCm39) D671V probably benign Het
Ndel1 A G 11: 68,734,645 (GRCm39) probably null Het
Or10g3 A T 14: 52,610,196 (GRCm39) Y105N probably damaging Het
Or1e27-ps1 A G 11: 73,555,825 (GRCm39) Y130C probably damaging Het
Or1e32 A T 11: 73,705,237 (GRCm39) S224T probably damaging Het
Or51a43 A T 7: 103,718,119 (GRCm39) S40T probably damaging Het
Otop2 A G 11: 115,220,354 (GRCm39) D398G probably benign Het
Pkd1 T C 17: 24,792,051 (GRCm39) V1246A probably damaging Het
Polr3b T A 10: 84,531,555 (GRCm39) D810E probably benign Het
Ppl T A 16: 4,920,211 (GRCm39) T395S probably benign Het
Ptprm G A 17: 67,116,630 (GRCm39) A883V probably benign Het
Rapgef6 G A 11: 54,443,700 (GRCm39) probably null Het
Rbm12 A T 2: 155,938,693 (GRCm39) Y526* probably null Het
Rbm15b C T 9: 106,763,595 (GRCm39) R191Q probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGACGGCGGCG 7: 97,229,120 (GRCm39) probably benign Het
Rxylt1 A G 10: 121,924,953 (GRCm39) Y250H probably damaging Het
Serpinb6c A T 13: 34,083,309 (GRCm39) I35N probably damaging Het
Setd4 A G 16: 93,386,961 (GRCm39) F246L probably damaging Het
Shank2 A G 7: 143,964,986 (GRCm39) S865G probably benign Het
Skint6 T C 4: 112,711,650 (GRCm39) N956D probably benign Het
Slc30a3 C A 5: 31,245,325 (GRCm39) V332F possibly damaging Het
Smg1 A G 7: 117,806,122 (GRCm39) S240P unknown Het
Tank T A 2: 61,409,005 (GRCm39) S7R probably benign Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tmem74 A G 15: 43,730,231 (GRCm39) S271P probably damaging Het
Tor4a T C 2: 25,084,965 (GRCm39) M313V probably benign Het
Tpd52l2 A G 2: 181,154,861 (GRCm39) D192G probably damaging Het
Trim29 T C 9: 43,222,945 (GRCm39) V258A probably damaging Het
Ttc39c A T 18: 12,831,003 (GRCm39) S288C probably benign Het
Ttn T C 2: 76,592,675 (GRCm39) E20819G probably damaging Het
Twnk C T 19: 45,000,272 (GRCm39) Q663* probably null Het
Ucn T A 5: 31,295,857 (GRCm39) Q3L probably benign Het
Unc80 G A 1: 66,629,388 (GRCm39) G1295E probably benign Het
Usp9y C T Y: 1,395,758 (GRCm39) R492H probably damaging Het
Vars1 T C 17: 35,234,620 (GRCm39) S1150P probably benign Het
Vwa5b1 T G 4: 138,327,628 (GRCm39) E316A probably damaging Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp839 A G 12: 110,834,848 (GRCm39) E701G probably benign Het
Zfp931 A T 2: 177,710,178 (GRCm39) C69* probably null Het
Other mutations in Ddx47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02719:Ddx47 APN 6 134,994,114 (GRCm39) missense probably benign 0.06
PIT4466001:Ddx47 UTSW 6 134,992,803 (GRCm39) missense probably benign 0.31
R0304:Ddx47 UTSW 6 134,994,183 (GRCm39) missense possibly damaging 0.62
R0617:Ddx47 UTSW 6 134,994,085 (GRCm39) missense probably damaging 1.00
R1223:Ddx47 UTSW 6 134,989,277 (GRCm39) missense possibly damaging 0.70
R1468:Ddx47 UTSW 6 134,988,703 (GRCm39) splice site probably benign
R2005:Ddx47 UTSW 6 134,995,084 (GRCm39) missense probably benign 0.06
R2134:Ddx47 UTSW 6 134,992,313 (GRCm39) nonsense probably null
R2993:Ddx47 UTSW 6 134,995,944 (GRCm39) missense probably damaging 1.00
R3714:Ddx47 UTSW 6 134,996,025 (GRCm39) missense probably damaging 1.00
R4352:Ddx47 UTSW 6 134,995,018 (GRCm39) missense probably benign 0.38
R4355:Ddx47 UTSW 6 134,998,468 (GRCm39) missense probably benign
R4495:Ddx47 UTSW 6 134,998,429 (GRCm39) missense possibly damaging 0.62
R4664:Ddx47 UTSW 6 134,989,319 (GRCm39) missense possibly damaging 0.95
R5527:Ddx47 UTSW 6 134,988,657 (GRCm39) missense probably benign 0.35
R6119:Ddx47 UTSW 6 135,000,318 (GRCm39) missense probably benign
R7038:Ddx47 UTSW 6 135,000,336 (GRCm39) missense possibly damaging 0.84
R7270:Ddx47 UTSW 6 135,000,301 (GRCm39) missense probably benign 0.08
R8855:Ddx47 UTSW 6 135,000,356 (GRCm39) missense probably benign 0.06
X0026:Ddx47 UTSW 6 135,000,352 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTCTGTATGAGGTCAGCGTTTC -3'
(R):5'- TGTGTCACAGGTGAGGAATGC -3'

Sequencing Primer
(F):5'- GGCATTCTCTGACCTGAGG -3'
(R):5'- CACAGGTGAGGAATGCAAGCTG -3'
Posted On 2021-07-15