Incidental Mutation 'IGL02937:Rigi'
ID 364389
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 # IGL02937
Quality Score
Status
Chromosome 4
Chromosomal Location 40203773-40239828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40229661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 86 (C86Y)
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 benign
Transcript: ENSMUST00000037907
AA Change: C86Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: C86Y

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: C41Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296
AA Change: C41Y

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,206,049 (GRCm39) C21Y probably damaging Het
4933427D06Rik T C 6: 89,085,127 (GRCm39) noncoding transcript Het
5730480H06Rik A G 5: 48,536,783 (GRCm39) I160V probably benign Het
Arhgap29 G A 3: 121,767,698 (GRCm39) E47K probably damaging Het
Arhgef12 T A 9: 42,927,216 (GRCm39) S303C probably damaging Het
Bap1 A G 14: 30,980,284 (GRCm39) N644S probably benign Het
Cc2d1b A G 4: 108,489,091 (GRCm39) E796G probably damaging Het
Cfh C A 1: 140,033,180 (GRCm39) R788L probably benign Het
Cldn1 A G 16: 26,179,623 (GRCm39) F148S probably damaging Het
Cryzl1 A G 16: 91,487,619 (GRCm39) M292T possibly damaging Het
Cyp11b1 T C 15: 74,708,408 (GRCm39) R385G possibly damaging Het
Cyp4f37 T C 17: 32,844,163 (GRCm39) L89P probably benign Het
Dach1 A G 14: 98,153,231 (GRCm39) probably null Het
Dhtkd1 A G 2: 5,922,716 (GRCm39) I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 (GRCm39) D44E probably damaging Het
Dsg1a T A 18: 20,464,591 (GRCm39) I362N possibly damaging Het
Ecm2 T A 13: 49,671,952 (GRCm39) I151N probably damaging Het
Far1 T A 7: 113,139,855 (GRCm39) I101N probably damaging Het
Gm21985 T C 2: 112,172,207 (GRCm39) S384P probably benign Het
Gnb5 T C 9: 75,247,471 (GRCm39) Y247H probably damaging Het
Golgb1 A G 16: 36,736,572 (GRCm39) K1940E probably damaging Het
Gprc5b A G 7: 118,583,017 (GRCm39) V284A probably benign Het
Idh2 T C 7: 79,748,661 (GRCm39) Y179C probably damaging Het
Kalrn G A 16: 34,040,500 (GRCm39) Q737* probably null Het
Kcnj13 T C 1: 87,314,175 (GRCm39) D349G probably damaging Het
Lgsn A T 1: 31,243,318 (GRCm39) T467S possibly damaging Het
Map9 T A 3: 82,270,819 (GRCm39) S128T possibly damaging Het
Mroh5 A G 15: 73,661,827 (GRCm39) C455R probably damaging Het
Nes A G 3: 87,887,186 (GRCm39) H1771R probably benign Het
Nkain2 T C 10: 32,205,840 (GRCm39) Y65C probably damaging Het
Or51a43 T A 7: 103,718,056 (GRCm39) M61L probably damaging Het
Or51b6b A T 7: 103,310,112 (GRCm39) V115D probably damaging Het
Or6aa1 T C 7: 86,043,798 (GRCm39) K303E possibly damaging Het
Pabpc4l A C 3: 46,400,725 (GRCm39) D306E probably benign Het
Parp12 A T 6: 39,079,515 (GRCm39) Y332N probably damaging Het
Parvb A T 15: 84,193,154 (GRCm39) K316M probably damaging Het
Pde8a T A 7: 80,945,519 (GRCm39) probably benign Het
Polq A G 16: 36,833,471 (GRCm39) T55A probably benign Het
Ppp2r5b T A 19: 6,281,016 (GRCm39) K271M probably damaging Het
Ralgapb A G 2: 158,334,936 (GRCm39) probably null Het
Skap2 T C 6: 51,886,351 (GRCm39) N175D probably benign Het
Slc44a3 A G 3: 121,303,970 (GRCm39) probably benign Het
Smurf2 G A 11: 106,736,873 (GRCm39) H318Y probably damaging Het
Tbc1d23 T C 16: 57,004,778 (GRCm39) T460A possibly damaging Het
Tcerg1 T C 18: 42,657,414 (GRCm39) S299P unknown Het
Tll1 A C 8: 64,658,319 (GRCm39) Y33* probably null Het
Tmem59 A T 4: 107,054,782 (GRCm39) T196S probably damaging Het
Ttll4 C A 1: 74,718,662 (GRCm39) A171D possibly damaging Het
Ttn T C 2: 76,641,513 (GRCm39) T13528A possibly damaging Het
Ttn A G 2: 76,717,621 (GRCm39) probably benign Het
Xpc C A 6: 91,477,119 (GRCm39) G327W probably damaging Het
Zbtb7a A G 10: 80,980,132 (GRCm39) S109G probably benign Het
Zfyve26 T C 12: 79,285,794 (GRCm39) M2328V 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
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 2015-12-18