Incidental Mutation 'R7759:Rigi'
ID 597712
Institutional Source Beutler Lab
Gene Symbol Rigi
Ensembl Gene ENSMUSG00000040296
Gene Name RNA sensor RIG-I
Synonyms RIG-I, DEAD (Asp-Glu-Ala-Asp) box polypeptide 58, Ddx58, 6430573D20Rik
MMRRC Submission 045815-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R7759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 40203773-40239828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40225104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 298 (A298S)
Ref Sequence ENSEMBL: ENSMUSP00000042433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037907] [ENSMUST00000142055]
AlphaFold Q6Q899
PDB Structure Mouse RIG-I ATPase Domain [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000037907
AA Change: A298S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: A298S

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 damaging
Transcript: ENSMUST00000142055
AA Change: A253S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296
AA Change: A253S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G T 16: 4,682,514 (GRCm39) G215V probably benign Het
Adamts1 C A 16: 85,594,683 (GRCm39) G652C probably damaging Het
Adck1 G A 12: 88,368,887 (GRCm39) A122T possibly damaging Het
Akap1 A C 11: 88,736,659 (GRCm39) M34R probably damaging Het
Apc2 C T 10: 80,147,030 (GRCm39) R695C probably damaging Het
Apon T A 10: 128,090,384 (GRCm39) W21R probably benign Het
Arhgef16 T C 4: 154,371,432 (GRCm39) T254A probably benign Het
Arid5b T A 10: 67,933,632 (GRCm39) S757C probably damaging Het
B020004C17Rik A C 14: 57,254,242 (GRCm39) I122L possibly damaging Het
Bckdhb T G 9: 83,892,379 (GRCm39) V270G probably damaging Het
Cacna1d A G 14: 29,821,145 (GRCm39) Y1146H probably benign Het
Carmil2 A G 8: 106,423,668 (GRCm39) D1214G possibly damaging Het
Ccdc142 T C 6: 83,084,912 (GRCm39) V636A probably benign Het
Chd9 T C 8: 91,704,178 (GRCm39) probably null Het
Csmd3 A G 15: 47,561,569 (GRCm39) S1336P Het
Cubn A G 2: 13,352,961 (GRCm39) Y1926H probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Eme1 A T 11: 94,536,666 (GRCm39) Y504* probably null Het
Enah G A 1: 181,746,009 (GRCm39) A687V unknown Het
Endou A C 15: 97,611,747 (GRCm39) V339G probably damaging Het
Ephb6 G A 6: 41,591,539 (GRCm39) R232H probably benign Het
Ephx2 G A 14: 66,326,968 (GRCm39) A409V possibly damaging Het
Esd T A 14: 74,983,007 (GRCm39) C219* probably null Het
Fscb A T 12: 64,520,866 (GRCm39) M200K probably benign Het
Gabra6 A T 11: 42,208,508 (GRCm39) V108D probably damaging Het
Gm11555 A G 11: 99,540,568 (GRCm39) V137A unknown Het
Gpld1 A G 13: 25,146,383 (GRCm39) D209G probably damaging Het
Ikzf1 T A 11: 11,719,256 (GRCm39) I408N probably damaging Het
Itgb4 A G 11: 115,894,536 (GRCm39) R1364G possibly damaging Het
Kif26b A C 1: 178,506,509 (GRCm39) K195T probably damaging Het
Mfsd12 T C 10: 81,199,427 (GRCm39) W440R probably benign Het
Mtrr C T 13: 68,718,146 (GRCm39) E373K probably damaging Het
Mug2 T A 6: 122,058,317 (GRCm39) V1293E probably damaging Het
Myof C A 19: 37,928,346 (GRCm39) A1068S probably benign Het
Ncam2 A G 16: 81,412,672 (GRCm39) D720G probably damaging Het
Nova2 G T 7: 18,692,176 (GRCm39) G435V Het
Oacyl T A 18: 65,843,631 (GRCm39) D109E probably damaging Het
Or2y1g A T 11: 49,171,463 (GRCm39) M163L probably benign Het
Or56a4 G A 7: 104,806,232 (GRCm39) S219F probably damaging Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pdzd8 C A 19: 59,288,358 (GRCm39) R1014L probably damaging Het
Ppm1h T G 10: 122,740,018 (GRCm39) D364E probably benign Het
Rp1 T C 1: 4,415,107 (GRCm39) N2002D probably benign Het
Sall1 C T 8: 89,768,979 (GRCm39) probably null Het
Scn10a C T 9: 119,477,198 (GRCm39) W728* probably null Het
Setdb2 G T 14: 59,656,813 (GRCm39) T168K probably damaging Het
Sgms1 T C 19: 32,137,276 (GRCm39) I97V probably benign Het
Slc8a3 A T 12: 81,361,325 (GRCm39) M498K probably benign Het
Smpd4 A T 16: 17,456,497 (GRCm39) E362D probably damaging Het
Ssc5d A T 7: 4,940,529 (GRCm39) K881* probably null Het
Strn4 A G 7: 16,564,309 (GRCm39) E313G probably damaging Het
Tas2r113 A T 6: 132,870,890 (GRCm39) N306I possibly damaging Het
Tdrd6 G T 17: 43,935,730 (GRCm39) R1773S probably benign Het
Thbs2 T C 17: 14,897,321 (GRCm39) E729G probably damaging Het
Tnfrsf23 G A 7: 143,224,572 (GRCm39) T135I probably damaging Het
Tollip A G 7: 141,438,276 (GRCm39) M218T probably benign Het
Tyk2 A T 9: 21,031,554 (GRCm39) probably null Het
Ubr2 G A 17: 47,296,974 (GRCm39) R269C probably damaging Het
Uggt1 A T 1: 36,185,806 (GRCm39) M1459K possibly damaging Het
Upf1 A G 8: 70,786,730 (GRCm39) V929A probably benign Het
Usp48 T C 4: 137,321,763 (GRCm39) S24P probably benign Het
Vmn1r214 G A 13: 23,218,631 (GRCm39) E42K not run Het
Vmn1r83 G T 7: 12,055,360 (GRCm39) D232E probably benign Het
Vmn2r25 C T 6: 123,800,339 (GRCm39) V668I probably damaging Het
Vmn2r6 A G 3: 64,463,991 (GRCm39) I281T probably damaging Het
Ywhag A T 5: 135,940,043 (GRCm39) Y184N probably damaging Het
Zdbf2 A C 1: 63,347,535 (GRCm39) E1971D possibly damaging Het
Zfp568 G A 7: 29,722,839 (GRCm39) A595T possibly damaging Het
Zfy2 T C Y: 2,117,083 (GRCm39) D248G probably benign Het
Other mutations in Rigi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Rigi APN 4 40,220,389 (GRCm39) splice site probably benign
IGL01344:Rigi APN 4 40,208,883 (GRCm39) missense probably damaging 0.99
IGL01414:Rigi APN 4 40,222,176 (GRCm39) missense probably damaging 1.00
IGL01529:Rigi APN 4 40,225,685 (GRCm39) missense probably benign
IGL01756:Rigi APN 4 40,209,934 (GRCm39) missense probably damaging 1.00
IGL02023:Rigi APN 4 40,216,487 (GRCm39) missense possibly damaging 0.76
IGL02223:Rigi APN 4 40,209,993 (GRCm39) missense possibly damaging 0.48
IGL02458:Rigi APN 4 40,229,536 (GRCm39) missense probably damaging 0.98
IGL02937:Rigi APN 4 40,229,661 (GRCm39) missense probably benign 0.00
IGL03358:Rigi APN 4 40,206,069 (GRCm39) missense possibly damaging 0.54
E2594:Rigi UTSW 4 40,235,282 (GRCm39) nonsense probably null
R0324:Rigi UTSW 4 40,213,766 (GRCm39) missense probably benign 0.24
R0400:Rigi UTSW 4 40,235,257 (GRCm39) missense probably benign 0.00
R0518:Rigi UTSW 4 40,216,354 (GRCm39) critical splice donor site probably null
R0834:Rigi UTSW 4 40,239,596 (GRCm39) missense possibly damaging 0.64
R1474:Rigi UTSW 4 40,208,868 (GRCm39) missense possibly damaging 0.62
R1611:Rigi UTSW 4 40,223,862 (GRCm39) missense probably damaging 1.00
R1803:Rigi UTSW 4 40,224,013 (GRCm39) missense probably benign 0.00
R1906:Rigi UTSW 4 40,206,054 (GRCm39) missense probably benign 0.01
R2072:Rigi UTSW 4 40,224,069 (GRCm39) splice site probably null
R4696:Rigi UTSW 4 40,203,798 (GRCm39) unclassified probably benign
R4860:Rigi UTSW 4 40,210,000 (GRCm39) missense probably damaging 0.97
R4860:Rigi UTSW 4 40,210,000 (GRCm39) missense probably damaging 0.97
R5027:Rigi UTSW 4 40,208,845 (GRCm39) missense probably benign
R5568:Rigi UTSW 4 40,222,140 (GRCm39) missense probably benign
R6144:Rigi UTSW 4 40,229,551 (GRCm39) missense probably benign 0.21
R6341:Rigi UTSW 4 40,222,199 (GRCm39) critical splice acceptor site probably null
R6373:Rigi UTSW 4 40,216,487 (GRCm39) missense possibly damaging 0.76
R6454:Rigi UTSW 4 40,220,456 (GRCm39) missense probably damaging 0.99
R6456:Rigi UTSW 4 40,213,838 (GRCm39) missense possibly damaging 0.73
R6523:Rigi UTSW 4 40,205,947 (GRCm39) missense probably benign 0.00
R6593:Rigi UTSW 4 40,226,651 (GRCm39) missense probably benign 0.02
R6741:Rigi UTSW 4 40,211,624 (GRCm39) missense probably damaging 1.00
R6964:Rigi UTSW 4 40,225,697 (GRCm39) missense probably benign 0.00
R7149:Rigi UTSW 4 40,222,079 (GRCm39) missense possibly damaging 0.64
R7159:Rigi UTSW 4 40,213,804 (GRCm39) missense probably benign 0.29
R7237:Rigi UTSW 4 40,205,938 (GRCm39) missense probably benign 0.10
R7352:Rigi UTSW 4 40,239,668 (GRCm39) missense probably benign 0.00
R7356:Rigi UTSW 4 40,226,600 (GRCm39) missense probably benign 0.01
R7611:Rigi UTSW 4 40,225,651 (GRCm39) missense probably damaging 1.00
R7615:Rigi UTSW 4 40,229,653 (GRCm39) missense possibly damaging 0.59
R7729:Rigi UTSW 4 40,206,034 (GRCm39) missense possibly damaging 0.53
R7800:Rigi UTSW 4 40,211,618 (GRCm39) missense probably benign 0.35
R7965:Rigi UTSW 4 40,223,824 (GRCm39) nonsense probably null
R7976:Rigi UTSW 4 40,209,894 (GRCm39) missense probably damaging 1.00
R8531:Rigi UTSW 4 40,225,596 (GRCm39) critical splice donor site probably null
R8978:Rigi UTSW 4 40,239,650 (GRCm39) missense probably damaging 0.99
R8994:Rigi UTSW 4 40,205,941 (GRCm39) nonsense probably null
R9052:Rigi UTSW 4 40,208,459 (GRCm39) missense probably benign 0.03
R9164:Rigi UTSW 4 40,208,827 (GRCm39) missense probably damaging 0.99
R9394:Rigi UTSW 4 40,213,831 (GRCm39) missense probably damaging 0.98
R9431:Rigi UTSW 4 40,229,545 (GRCm39) missense probably benign 0.00
R9645:Rigi UTSW 4 40,220,437 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- GGCTACGTGATACACTGTCTCAG -3'
(R):5'- TCCCAGTGGTCATAGAGAAGC -3'

Sequencing Primer
(F):5'- TACGTGATACACTGTCTCAGAAAAC -3'
(R):5'- GAAGCCAAAATAAGTACCATTCTGG -3'
Posted On 2019-11-26