Incidental Mutation 'R2072:Ddx58'
ID 227206
Institutional Source Beutler Lab
Gene Symbol Ddx58
Ensembl Gene ENSMUSG00000040296
Gene Name DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
Synonyms RIG-I, 6430573D20Rik
MMRRC Submission 040077-MU
Accession Numbers

Genbank: NM_172689; MGI:2442858

Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R2072 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 40203773-40239828 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 40224069 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037907] [ENSMUST00000037907] [ENSMUST00000142055] [ENSMUST00000142055] [ENSMUST00000142055] [ENSMUST00000142055]
AlphaFold Q6Q899
Predicted Effect probably null
Transcript: ENSMUST00000037907
SMART Domains Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296

DomainStartEndE-ValueType
Pfam:CARD_2 1 93 1.2e-31 PFAM
Pfam:CARD_2 99 189 6.2e-28 PFAM
DEXDc 240 453 8.61e-26 SMART
low complexity region 582 600 N/A INTRINSIC
HELICc 642 735 1.32e-12 SMART
Pfam:RIG-I_C-RD 807 924 4.4e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000037907
SMART Domains Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296

DomainStartEndE-ValueType
Pfam:CARD_2 1 93 1.2e-31 PFAM
Pfam:CARD_2 99 189 6.2e-28 PFAM
DEXDc 240 453 8.61e-26 SMART
low complexity region 582 600 N/A INTRINSIC
HELICc 642 735 1.32e-12 SMART
Pfam:RIG-I_C-RD 807 924 4.4e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139583
Predicted Effect probably null
Transcript: ENSMUST00000142055
SMART Domains Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296

DomainStartEndE-ValueType
PDB:4NQK|D 1 153 3e-53 PDB
DEXDc 195 408 8.61e-26 SMART
low complexity region 537 555 N/A INTRINSIC
HELICc 597 690 1.32e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000142055
SMART Domains Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296

DomainStartEndE-ValueType
PDB:4NQK|D 1 153 3e-53 PDB
DEXDc 195 408 8.61e-26 SMART
low complexity region 537 555 N/A INTRINSIC
HELICc 597 690 1.32e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000142055
SMART Domains Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296

DomainStartEndE-ValueType
PDB:4NQK|D 1 153 3e-53 PDB
DEXDc 195 408 8.61e-26 SMART
low complexity region 537 555 N/A INTRINSIC
HELICc 597 690 1.32e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000142055
SMART Domains Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296

DomainStartEndE-ValueType
PDB:4NQK|D 1 153 3e-53 PDB
DEXDc 195 408 8.61e-26 SMART
low complexity region 537 555 N/A INTRINSIC
HELICc 597 690 1.32e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149539
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a null allele die in utero with liver apoptosis while survivors show impaired IFN induction and succumb to infection with certain RNA viruses. Homozygotes for another null allele are viable but develop colitis and progressive granulocytosis leading to chronic myeloid leukemia. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, knock-out(2) Gene trapped(7)

Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G C 5: 63,898,737 (GRCm38) R272P possibly damaging Het
9130011E15Rik A T 19: 45,965,381 (GRCm38) I188K probably damaging Het
Ablim3 A T 18: 61,857,088 (GRCm38) D83E possibly damaging Het
Aco1 G A 4: 40,183,605 (GRCm38) G508S probably damaging Het
Adamts13 C A 2: 27,005,425 (GRCm38) T1176N probably benign Het
Adgre5 T C 8: 83,727,804 (GRCm38) T357A probably benign Het
Akap8l C T 17: 32,332,483 (GRCm38) R511H probably damaging Het
Ankrd33 T C 15: 101,119,636 (GRCm38) V310A probably benign Het
Bnipl C T 3: 95,244,211 (GRCm38) G232E probably damaging Het
Btbd17 A T 11: 114,791,952 (GRCm38) probably null Het
Cacna1s G A 1: 136,079,504 (GRCm38) V173I probably benign Het
Ccdc122 T C 14: 77,068,951 (GRCm38) probably null Het
Ces1a T A 8: 93,048,075 (GRCm38) N12Y probably benign Het
Chrdl1 T C X: 143,303,418 (GRCm38) I231V probably benign Het
Ciita C T 16: 10,518,353 (GRCm38) T958I probably benign Het
Cnot1 G T 8: 95,739,833 (GRCm38) T1592K possibly damaging Het
Dcaf15 T C 8: 84,101,741 (GRCm38) D240G probably damaging Het
Dlgap1 C T 17: 70,662,770 (GRCm38) R524C probably damaging Het
Dmd G C X: 84,312,483 (GRCm38) A2257P probably benign Het
Dsg1c A G 18: 20,275,252 (GRCm38) M453V probably benign Het
Ednrb G T 14: 103,817,099 (GRCm38) N432K probably benign Het
Fcgbp G A 7: 28,120,389 (GRCm38) G2514S probably damaging Het
Fez1 A G 9: 36,867,945 (GRCm38) K306R probably benign Het
Fmo4 A G 1: 162,809,887 (GRCm38) V12A probably benign Het
Fpgt T C 3: 155,087,874 (GRCm38) Y172C probably damaging Het
Fsip2 T A 2: 83,008,815 (GRCm38) F6976I possibly damaging Het
Galnt12 C T 4: 47,108,477 (GRCm38) R205* probably null Het
Grik5 A T 7: 25,015,313 (GRCm38) M752K possibly damaging Het
Herc2 A G 7: 56,226,964 (GRCm38) N4516S probably damaging Het
Ifrd2 A T 9: 107,592,545 (GRCm38) D439V probably damaging Het
Igsf3 A G 3: 101,439,515 (GRCm38) T609A probably benign Het
Kif5a T C 10: 127,245,369 (GRCm38) D232G probably damaging Het
Lgi2 A G 5: 52,538,505 (GRCm38) S371P probably damaging Het
March3 A T 18: 56,811,853 (GRCm38) V56E possibly damaging Het
Mib2 T C 4: 155,659,701 (GRCm38) D168G probably damaging Het
Nhs T A X: 161,842,721 (GRCm38) H544L probably damaging Het
Nlrp2 A G 7: 5,325,006 (GRCm38) S683P probably damaging Het
Olfr1260 C A 2: 89,978,213 (GRCm38) T145K probably benign Het
Olfr1454 A T 19: 13,063,680 (GRCm38) M90L probably benign Het
Olfr527 T C 7: 140,336,653 (GRCm38) S264P possibly damaging Het
Onecut3 T G 10: 80,495,014 (GRCm38) L3V unknown Het
Otogl C T 10: 107,781,043 (GRCm38) C1791Y probably damaging Het
Paip1 T C 13: 119,430,262 (GRCm38) V128A possibly damaging Het
Pcnx2 A T 8: 125,761,742 (GRCm38) C1688S possibly damaging Het
Pdzd2 A G 15: 12,385,819 (GRCm38) L955P probably damaging Het
Phlpp2 T C 8: 109,928,492 (GRCm38) S605P possibly damaging Het
Pkhd1l1 G T 15: 44,558,639 (GRCm38) A3102S probably damaging Het
Plxnb2 G T 15: 89,158,451 (GRCm38) R1545S probably damaging Het
Ppp4c T C 7: 126,787,348 (GRCm38) probably null Het
Prune1 C T 3: 95,255,408 (GRCm38) R318Q probably benign Het
Psg27 A G 7: 18,565,009 (GRCm38) L129P probably benign Het
Psg27 T C 7: 18,560,417 (GRCm38) D355G probably damaging Het
Psmc6 A G 14: 45,329,866 (GRCm38) K7E possibly damaging Het
Reln A T 5: 21,919,177 (GRCm38) V2777E probably damaging Het
Scn11a G T 9: 119,811,208 (GRCm38) A207E possibly damaging Het
Slc5a5 C T 8: 70,892,439 (GRCm38) G75R possibly damaging Het
Smarcd2 A T 11: 106,265,307 (GRCm38) L42* probably null Het
Smg1 T C 7: 118,163,166 (GRCm38) probably benign Het
Smurf2 T A 11: 106,841,769 (GRCm38) Q335L probably benign Het
Sspo A T 6: 48,473,517 (GRCm38) H2580L probably benign Het
Stk3 T C 15: 34,959,049 (GRCm38) M256V possibly damaging Het
Syt1 A G 10: 108,583,972 (GRCm38) I276T probably damaging Het
Syt10 C T 15: 89,790,776 (GRCm38) D456N probably damaging Het
Taar9 A T 10: 24,108,979 (GRCm38) C186S probably damaging Het
Tnrc6b C T 15: 80,882,965 (GRCm38) P977L possibly damaging Het
Trp53bp2 A G 1: 182,458,867 (GRCm38) T1091A probably benign Het
Ttn G T 2: 76,937,776 (GRCm38) T2947N probably damaging Het
Ube2q1 T C 3: 89,779,571 (GRCm38) probably null Het
Ube3c A G 5: 29,635,640 (GRCm38) E671G probably benign Het
Upf3a A G 8: 13,785,850 (GRCm38) K56R possibly damaging Het
Vmn2r15 A T 5: 109,286,753 (GRCm38) M695K possibly damaging Het
Vmn2r3 A T 3: 64,275,072 (GRCm38) M402K possibly damaging Het
Zfp354b T A 11: 50,922,452 (GRCm38) R549* probably null Het
Zfp37 A T 4: 62,191,708 (GRCm38) M411K probably damaging Het
Zfp747 T A 7: 127,373,970 (GRCm38) T343S possibly damaging Het
Zfp853 T A 5: 143,289,382 (GRCm38) Q161L unknown Het
Other mutations in Ddx58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Ddx58 APN 4 40,220,389 (GRCm38) splice site probably benign
IGL01344:Ddx58 APN 4 40,208,883 (GRCm38) missense probably damaging 0.99
IGL01414:Ddx58 APN 4 40,222,176 (GRCm38) missense probably damaging 1.00
IGL01529:Ddx58 APN 4 40,225,685 (GRCm38) missense probably benign
IGL01756:Ddx58 APN 4 40,209,934 (GRCm38) missense probably damaging 1.00
IGL02023:Ddx58 APN 4 40,216,487 (GRCm38) missense possibly damaging 0.76
IGL02223:Ddx58 APN 4 40,209,993 (GRCm38) missense possibly damaging 0.48
IGL02458:Ddx58 APN 4 40,229,536 (GRCm38) missense probably damaging 0.98
IGL02937:Ddx58 APN 4 40,229,661 (GRCm38) missense probably benign 0.00
IGL03358:Ddx58 APN 4 40,206,069 (GRCm38) missense possibly damaging 0.54
E2594:Ddx58 UTSW 4 40,235,282 (GRCm38) nonsense probably null
R0324:Ddx58 UTSW 4 40,213,766 (GRCm38) missense probably benign 0.24
R0400:Ddx58 UTSW 4 40,235,257 (GRCm38) missense probably benign 0.00
R0518:Ddx58 UTSW 4 40,216,354 (GRCm38) critical splice donor site probably null
R0834:Ddx58 UTSW 4 40,239,596 (GRCm38) missense possibly damaging 0.64
R1474:Ddx58 UTSW 4 40,208,868 (GRCm38) missense possibly damaging 0.62
R1611:Ddx58 UTSW 4 40,223,862 (GRCm38) missense probably damaging 1.00
R1803:Ddx58 UTSW 4 40,224,013 (GRCm38) missense probably benign 0.00
R1906:Ddx58 UTSW 4 40,206,054 (GRCm38) missense probably benign 0.01
R4696:Ddx58 UTSW 4 40,203,798 (GRCm38) unclassified probably benign
R4860:Ddx58 UTSW 4 40,210,000 (GRCm38) missense probably damaging 0.97
R4860:Ddx58 UTSW 4 40,210,000 (GRCm38) missense probably damaging 0.97
R5027:Ddx58 UTSW 4 40,208,845 (GRCm38) missense probably benign
R5568:Ddx58 UTSW 4 40,222,140 (GRCm38) missense probably benign
R6144:Ddx58 UTSW 4 40,229,551 (GRCm38) missense probably benign 0.21
R6341:Ddx58 UTSW 4 40,222,199 (GRCm38) critical splice acceptor site probably null
R6373:Ddx58 UTSW 4 40,216,487 (GRCm38) missense possibly damaging 0.76
R6454:Ddx58 UTSW 4 40,220,456 (GRCm38) missense probably damaging 0.99
R6456:Ddx58 UTSW 4 40,213,838 (GRCm38) missense possibly damaging 0.73
R6523:Ddx58 UTSW 4 40,205,947 (GRCm38) missense probably benign 0.00
R6593:Ddx58 UTSW 4 40,226,651 (GRCm38) missense probably benign 0.02
R6741:Ddx58 UTSW 4 40,211,624 (GRCm38) missense probably damaging 1.00
R6964:Ddx58 UTSW 4 40,225,697 (GRCm38) missense probably benign 0.00
R7149:Ddx58 UTSW 4 40,222,079 (GRCm38) missense possibly damaging 0.64
R7159:Ddx58 UTSW 4 40,213,804 (GRCm38) missense probably benign 0.29
R7237:Ddx58 UTSW 4 40,205,938 (GRCm38) missense probably benign 0.10
R7352:Ddx58 UTSW 4 40,239,668 (GRCm38) missense probably benign 0.00
R7356:Ddx58 UTSW 4 40,226,600 (GRCm38) missense probably benign 0.01
R7611:Ddx58 UTSW 4 40,225,651 (GRCm38) missense probably damaging 1.00
R7615:Ddx58 UTSW 4 40,229,653 (GRCm38) missense possibly damaging 0.59
R7729:Ddx58 UTSW 4 40,206,034 (GRCm38) missense possibly damaging 0.53
R7759:Ddx58 UTSW 4 40,225,104 (GRCm38) missense probably damaging 1.00
R7800:Ddx58 UTSW 4 40,211,618 (GRCm38) missense probably benign 0.35
R7965:Ddx58 UTSW 4 40,223,824 (GRCm38) nonsense probably null
R7976:Ddx58 UTSW 4 40,209,894 (GRCm38) missense probably damaging 1.00
R8531:Ddx58 UTSW 4 40,225,596 (GRCm38) critical splice donor site probably null
R8978:Ddx58 UTSW 4 40,239,650 (GRCm38) missense probably damaging 0.99
R8994:Ddx58 UTSW 4 40,205,941 (GRCm38) nonsense probably null
R9052:Ddx58 UTSW 4 40,208,459 (GRCm38) missense probably benign 0.03
R9164:Ddx58 UTSW 4 40,208,827 (GRCm38) missense probably damaging 0.99
R9394:Ddx58 UTSW 4 40,213,831 (GRCm38) missense probably damaging 0.98
R9431:Ddx58 UTSW 4 40,229,545 (GRCm38) missense probably benign 0.00
R9645:Ddx58 UTSW 4 40,220,437 (GRCm38) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- CCGTGACTCTCCAAGTTTGTG -3'
(R):5'- TGTGATCAGCTATAACCTCTTGC -3'

Sequencing Primer
(F):5'- TGGTCTAGGTATCTGAACATGATC -3'
(R):5'- GATCAGCTATAACCTCTTGCATTTC -3'
Posted On 2014-09-17