Incidental Mutation 'IGL01344:Rigi'
ID 74987
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # IGL01344
Quality Score
Status
Chromosome 4
Chromosomal Location 40203773-40239828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40208883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 698 (T698I)
Ref Sequence ENSEMBL: ENSMUSP00000115052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037907] [ENSMUST00000142055]
AlphaFold Q6Q899
Predicted Effect probably damaging
Transcript: ENSMUST00000037907
AA Change: T743I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: T743I

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: ENSMUST00000135966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140616
Predicted Effect probably damaging
Transcript: ENSMUST00000142055
AA Change: T698I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296
AA Change: T698I

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,020 (GRCm39) probably benign Het
Aak1 A G 6: 86,923,139 (GRCm39) K237R possibly damaging Het
Antxrl A C 14: 33,797,554 (GRCm39) M510L probably benign Het
Bdp1 T C 13: 100,214,588 (GRCm39) D417G probably benign Het
C3 T G 17: 57,531,880 (GRCm39) N250T probably benign Het
Cacna2d1 T A 5: 16,575,629 (GRCm39) I1073K probably benign Het
Ccin A T 4: 43,984,069 (GRCm39) N159Y probably damaging Het
Cep76 T C 18: 67,756,467 (GRCm39) T455A possibly damaging Het
Chaf1a T A 17: 56,371,104 (GRCm39) V663E probably damaging Het
Chit1 T C 1: 134,079,052 (GRCm39) F454S probably damaging Het
Cimip2a A T 2: 25,110,345 (GRCm39) I86F possibly damaging Het
Clasp2 A G 9: 113,642,360 (GRCm39) probably null Het
Ctcfl G T 2: 172,936,527 (GRCm39) A615E possibly damaging Het
Edaradd T C 13: 12,493,371 (GRCm39) D107G probably damaging Het
Efl1 T C 7: 82,330,688 (GRCm39) probably benign Het
Eps15l1 A G 8: 73,136,169 (GRCm39) probably null Het
Fahd2a T C 2: 127,283,987 (GRCm39) K18E probably benign Het
Fbxl20 A T 11: 97,990,926 (GRCm39) C147* probably null Het
Gsap G T 5: 21,447,881 (GRCm39) probably null Het
Gtse1 A T 15: 85,746,267 (GRCm39) probably null Het
Kcp A T 6: 29,498,950 (GRCm39) probably null Het
Llgl2 A G 11: 115,742,019 (GRCm39) D687G probably benign Het
Mcpt8 T A 14: 56,321,402 (GRCm39) I21F probably damaging Het
Met C A 6: 17,547,031 (GRCm39) S888Y probably benign Het
Mrtfa T C 15: 80,900,503 (GRCm39) T663A probably damaging Het
Ngf A G 3: 102,427,628 (GRCm39) T130A probably benign Het
Otud7b T A 3: 96,058,297 (GRCm39) probably benign Het
Preb C T 5: 31,113,388 (GRCm39) V349M probably damaging Het
Prmt1 G T 7: 44,627,059 (GRCm39) probably benign Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Ptprt T A 2: 161,393,737 (GRCm39) D1209V probably damaging Het
Sh3bp4 A G 1: 89,080,958 (GRCm39) N925S probably benign Het
Skint3 T A 4: 112,147,519 (GRCm39) M414K possibly damaging Het
Skor1 A T 9: 63,049,560 (GRCm39) S787R possibly damaging Het
Slc12a7 T A 13: 73,940,856 (GRCm39) I288N probably damaging Het
Smg1 A G 7: 117,790,059 (GRCm39) probably benign Het
Tpp2 C T 1: 44,022,422 (GRCm39) T940I probably benign Het
Trappc11 A T 8: 47,972,739 (GRCm39) I278N probably damaging Het
Umodl1 G A 17: 31,215,238 (GRCm39) V1021I probably damaging Het
Usp24 T C 4: 106,236,582 (GRCm39) S1059P possibly damaging Het
Other mutations in Rigi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Rigi APN 4 40,220,389 (GRCm39) splice site probably benign
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
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
Posted On 2013-10-07