Incidental Mutation 'R1223:Ddx47'
ID 152798
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 039292-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1223 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 134988575-135000739 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134989277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 34 (V34I)
Ref Sequence ENSEMBL: ENSMUSP00000145139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032326] [ENSMUST00000130851] [ENSMUST00000205055] [ENSMUST00000205244]
AlphaFold Q9CWX9
Predicted Effect probably benign
Transcript: ENSMUST00000032326
AA Change: V34I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204
AA Change: V34I

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 noncoding transcript
Transcript: ENSMUST00000123022
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 noncoding transcript
Transcript: ENSMUST00000131719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134549
Predicted Effect unknown
Transcript: ENSMUST00000154558
AA Change: V30I
SMART Domains Protein: ENSMUSP00000119231
Gene: ENSMUSG00000030204
AA Change: V30I

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 noncoding transcript
Transcript: ENSMUST00000155277
Predicted Effect unknown
Transcript: ENSMUST00000205055
AA Change: V34I
SMART Domains Protein: ENSMUSP00000145463
Gene: ENSMUSG00000030204
AA Change: V34I

DomainStartEndE-ValueType
low complexity region 16 23 N/A INTRINSIC
DEXDc 43 178 1.7e-9 SMART
Predicted Effect unknown
Transcript: ENSMUST00000204646
AA Change: V33I
Predicted Effect possibly damaging
Transcript: ENSMUST00000205244
AA Change: V34I

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145139
Gene: ENSMUSG00000030204
AA Change: V34I

DomainStartEndE-ValueType
DEXDc 6 178 3e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155698
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A T 16: 4,116,612 (GRCm39) V873E probably damaging Het
Arl10 A G 13: 54,726,744 (GRCm39) D174G probably damaging Het
Cd180 A T 13: 102,842,730 (GRCm39) Y592F possibly damaging Het
Ces3a A T 8: 105,784,661 (GRCm39) T548S probably benign Het
Chd2 T C 7: 73,134,265 (GRCm39) E694G probably damaging Het
Commd3 T C 2: 18,679,779 (GRCm39) Y163H probably benign Het
Cyp8b1 A G 9: 121,744,070 (GRCm39) S421P possibly damaging Het
Cysltr2 A T 14: 73,267,539 (GRCm39) V57E probably damaging Het
Dgkz T C 2: 91,769,660 (GRCm39) probably benign Het
Dsg2 G T 18: 20,706,550 (GRCm39) C22F probably benign Het
Gbp10 A C 5: 105,366,867 (GRCm39) V455G probably damaging Het
Gm12185 T A 11: 48,798,103 (GRCm39) I797F probably damaging Het
Katnip T A 7: 125,359,595 (GRCm39) V62E possibly damaging Het
Lrrk2 A G 15: 91,557,838 (GRCm39) E58G probably benign Het
Mrgprb1 A G 7: 48,097,435 (GRCm39) V159A possibly damaging Het
Mybphl A G 3: 108,282,512 (GRCm39) T182A possibly damaging Het
Or52e7 A T 7: 104,684,773 (GRCm39) I123F probably benign Het
Or9m1 G A 2: 87,733,163 (GRCm39) P286S probably damaging Het
Osr1 C T 12: 9,629,699 (GRCm39) L191F probably damaging Het
Pip4k2b G A 11: 97,609,720 (GRCm39) R406C probably damaging Het
Plce1 C T 19: 38,690,457 (GRCm39) L714F probably damaging Het
Plce1 T C 19: 38,755,670 (GRCm39) F1886S probably damaging Het
Ppp1cc A G 5: 122,306,277 (GRCm39) E32G probably damaging Het
Rnh1 A G 7: 140,743,120 (GRCm39) L260P probably damaging Het
Serpinb3a T A 1: 106,975,282 (GRCm39) N175I probably damaging Het
Sptbn5 T A 2: 119,902,525 (GRCm39) I68F probably damaging Het
Tas1r2 A T 4: 139,387,515 (GRCm39) T325S probably damaging Het
Tcirg1 T C 19: 3,948,733 (GRCm39) N484S probably benign Het
Tenm3 A T 8: 48,693,431 (GRCm39) M1833K possibly damaging Het
Thoc5 A G 11: 4,871,922 (GRCm39) E449G probably benign Het
Usp34 A G 11: 23,396,464 (GRCm39) 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
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
R8866: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'- CGTGACCTCCTTACAAGAGGCAAG -3'
(R):5'- ACTCAAGTAGTCCTGCCATACCCAG -3'

Sequencing Primer
(F):5'- gtgaggcacttggtagaataatag -3'
(R):5'- GCCATACCCAGGGAGAGATTATATC -3'
Posted On 2014-01-29