Incidental Mutation 'R6119:Ddx47'
ID 485654
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 044429-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R6119 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 134988575-135000739 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135000318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 438 (I438T)
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: I438T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204
AA Change: I438T

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: ENSMUST00000134549
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 noncoding transcript
Transcript: ENSMUST00000155277
Predicted Effect probably benign
Transcript: ENSMUST00000205244
SMART Domains Protein: ENSMUSP00000145139
Gene: ENSMUSG00000030204

DomainStartEndE-ValueType
DEXDc 6 178 3e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204646
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging 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
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'- AGCCAGTCTCATTTCACTTTGG -3'
(R):5'- GTCCCATTGCAATGACACTG -3'

Sequencing Primer
(F):5'- CTCTGTATGAGGTCAGCGTTTC -3'
(R):5'- TGCAATCCCGAGGAACGTTCTC -3'
Posted On 2017-08-16