Incidental Mutation 'R6593:Rigi'
ID 523463
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 044717-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R6593 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 40203773-40239828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40226651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 169 (I169V)
Ref Sequence ENSEMBL: ENSMUSP00000115052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037907] [ENSMUST00000142055]
AlphaFold Q6Q899
Predicted Effect probably benign
Transcript: ENSMUST00000037907
AA Change: I214V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: I214V

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: ENSMUST00000139110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139583
Predicted Effect probably benign
Transcript: ENSMUST00000142055
AA Change: I169V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296
AA Change: I169V

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: 99.8%
  • 3x: 99.2%
  • 10x: 96.6%
  • 20x: 89.6%
Validation Efficiency 100% (37/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,903,491 (GRCm39) N1047K probably benign Het
AI597479 C A 1: 43,150,408 (GRCm39) Q173K probably damaging Het
Arhgef10 T C 8: 15,012,522 (GRCm39) L282P probably damaging Het
Arhgef10 T C 8: 15,012,564 (GRCm39) I296T possibly damaging Het
Atg2b A G 12: 105,611,107 (GRCm39) S1275P probably damaging Het
Cep290 T C 10: 100,344,638 (GRCm39) M485T probably benign Het
Clca3a2 A G 3: 144,514,338 (GRCm39) probably null Het
Clcn6 C T 4: 148,095,226 (GRCm39) S731N probably benign Het
Clic6 A G 16: 92,325,005 (GRCm39) I388V possibly damaging Het
Cpsf4l G T 11: 113,600,192 (GRCm39) probably benign Het
Dlg5 G A 14: 24,200,720 (GRCm39) H1350Y probably benign Het
Dnase2b T C 3: 146,292,666 (GRCm39) Y169C probably damaging Het
Elavl3 C T 9: 21,929,843 (GRCm39) V354M possibly damaging Het
Farp2 A C 1: 93,497,662 (GRCm39) I231L possibly damaging Het
Gcc2 T A 10: 58,107,329 (GRCm39) M755K probably damaging Het
Gpr88 T C 3: 116,046,273 (GRCm39) T13A unknown Het
Gstm3 T A 3: 107,875,511 (GRCm39) N40Y probably benign Het
Krtap5-2 A T 7: 141,728,697 (GRCm39) C328S unknown Het
Lpar1 A T 4: 58,486,605 (GRCm39) V222E probably damaging Het
Neto2 A G 8: 86,396,175 (GRCm39) S192P probably damaging Het
Odad1 T A 7: 45,596,808 (GRCm39) D378E probably damaging Het
Or52n3 C T 7: 104,530,640 (GRCm39) T242I probably damaging Het
Pcdhgb1 G T 18: 37,815,134 (GRCm39) D542Y probably damaging Het
Phldb2 G A 16: 45,645,790 (GRCm39) Q264* probably null Het
Ptgs2 G A 1: 149,976,784 (GRCm39) D6N possibly damaging Het
Rasef G T 4: 73,663,327 (GRCm39) H167N probably damaging Het
Rbbp4 A G 4: 129,216,168 (GRCm39) L193S probably damaging Het
Sec24d T C 3: 123,147,061 (GRCm39) F673S probably damaging Het
Slc9b1 T C 3: 135,063,219 (GRCm39) M1T probably null Het
Stra6 A G 9: 58,059,262 (GRCm39) T542A probably benign Het
Stt3b T C 9: 115,081,579 (GRCm39) Y569C probably damaging Het
Traf3ip1 A G 1: 91,455,417 (GRCm39) K626R possibly damaging Het
Washc2 T A 6: 116,236,210 (GRCm39) I1227N probably damaging Het
Xpo7 G A 14: 70,919,802 (GRCm39) A671V probably damaging Het
Zfp799 A G 17: 33,038,764 (GRCm39) Y501H probably damaging 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
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
R7759:Rigi UTSW 4 40,225,104 (GRCm39) missense probably damaging 1.00
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'- TATGAAGTCCCTATTGCCCCAC -3'
(R):5'- GTGATTGTAAGAGCTCAACGG -3'

Sequencing Primer
(F):5'- GAAGTCCCTATTGCCCCACAAATTC -3'
(R):5'- GGTTTCAAAAGGGCTGAA -3'
Posted On 2018-06-22