Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Rigi'

570626

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

045438-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40203773-40239828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40239668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 10 (Q10L)

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: Q10L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: Q10L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000142055
AA Change: Q10L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296
AA Change: Q10L

Domain	Start	End	E-Value	Type
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: 99.8%
20x: 99.4%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,508,028 (GRCm39)	W1124*	probably null	Het
Acap3	G	A	4: 155,990,168 (GRCm39)	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796 (GRCm39)	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,429,998 (GRCm39)	L860P	probably damaging	Het
Arap3	G	A	18: 38,106,331 (GRCm39)	T1504I	probably benign	Het
Atad5	T	C	11: 79,994,169 (GRCm39)		probably null	Het
Atp8a2	A	G	14: 60,028,653 (GRCm39)	V938A	probably benign	Het
AW551984	T	C	9: 39,504,221 (GRCm39)	M582V	probably benign	Het
Axdnd1	C	T	1: 156,210,047 (GRCm39)	V408I	possibly damaging	Het
Babam2	T	A	5: 32,164,594 (GRCm39)	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,261,436 (GRCm39)	M20V	probably benign	Het
Bex6	A	G	16: 32,005,034 (GRCm39)		probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Cad	T	A	5: 31,215,422 (GRCm39)	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,736,260 (GRCm39)	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,491,124 (GRCm39)	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,265,745 (GRCm39)	F1396I	probably damaging	Het
Cep170	A	T	1: 176,597,423 (GRCm39)	D373E	probably benign	Het
Chrna4	A	T	2: 180,679,267 (GRCm39)	I60N	probably damaging	Het
Cntn2	T	C	1: 132,450,137 (GRCm39)	T586A	probably benign	Het
Csmd2	G	T	4: 128,451,429 (GRCm39)	V3396F		Het
Cyp3a44	T	A	5: 145,740,498 (GRCm39)	L47F	probably benign	Het
D7Ertd443e	A	T	7: 133,951,123 (GRCm39)	H183Q	probably benign	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dgat1	G	T	15: 76,387,024 (GRCm39)	C396*	probably null	Het
Dmpk	A	G	7: 18,819,997 (GRCm39)	S83G	probably damaging	Het
Dsc2	T	G	18: 20,168,392 (GRCm39)	D689A	probably benign	Het
Eppk1	A	T	15: 75,990,618 (GRCm39)	W2088R	probably benign	Het
Exph5	A	C	9: 53,287,022 (GRCm39)	I1368L	probably benign	Het
Fadd	T	C	7: 144,134,396 (GRCm39)	K163R	probably benign	Het
Fam149a	T	A	8: 45,794,034 (GRCm39)	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,125,448 (GRCm39)	M449K	probably benign	Het
Gad1	T	C	2: 70,425,094 (GRCm39)	F463L	probably benign	Het
Gad2	T	A	2: 22,513,835 (GRCm39)	F91I	probably benign	Het
Gcc2	T	C	10: 58,116,520 (GRCm39)		probably null	Het
Gjd3	A	C	11: 102,691,278 (GRCm39)	C242G	probably damaging	Het
Gkn1	T	C	6: 87,325,100 (GRCm39)	E103G	possibly damaging	Het
Gm867	T	C	10: 75,775,670 (GRCm39)	T39A	probably benign	Het
Gpr108	A	G	17: 57,543,944 (GRCm39)	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,219,289 (GRCm39)	V508G	probably damaging	Het
Grm1	A	T	10: 10,595,237 (GRCm39)	I797N	probably damaging	Het
Ice1	G	A	13: 70,754,221 (GRCm39)	Q622*	probably null	Het
Kcnb2	T	A	1: 15,780,835 (GRCm39)	V569E	probably benign	Het
Ksr2	T	G	5: 117,827,706 (GRCm39)	I495S	probably benign	Het
Litaf	A	T	16: 10,781,217 (GRCm39)	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,110 (GRCm39)	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,302,741 (GRCm39)	S2996Y	probably benign	Het
Ltf	T	C	9: 110,857,518 (GRCm39)	S436P	probably benign	Het
Map4k4	T	A	1: 40,001,387 (GRCm39)	V58D	unknown	Het
Mapkapk3	C	A	9: 107,134,269 (GRCm39)	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,335,674 (GRCm39)	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,224,737 (GRCm39)	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,817,063 (GRCm39)	M248V	probably benign	Het
Olig2	A	G	16: 91,023,577 (GRCm39)	D97G	probably benign	Het
Or4a2	C	A	2: 89,248,311 (GRCm39)	G149W	probably damaging	Het
Or4a39	T	C	2: 89,236,806 (GRCm39)	M206V	probably benign	Het
Or4p8	T	A	2: 88,727,062 (GRCm39)	N293I	probably damaging	Het
Or5b95	A	G	19: 12,658,115 (GRCm39)	I214M	possibly damaging	Het
Or5g23	T	C	2: 85,439,128 (GRCm39)	N42S	probably damaging	Het
Or6f2	A	T	7: 139,756,438 (GRCm39)	Y135F	probably damaging	Het
Pcdha11	T	A	18: 37,139,898 (GRCm39)	V509E	probably damaging	Het
Pglyrp3	G	A	3: 91,921,947 (GRCm39)	W5*	probably null	Het
Phf14	A	T	6: 11,961,637 (GRCm39)	N425Y	probably damaging	Het
Phf3	G	T	1: 30,843,407 (GRCm39)	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Pnma2	A	G	14: 67,153,870 (GRCm39)	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,008,091 (GRCm39)	T782I	probably damaging	Het
Pramel52-ps	A	T	5: 94,531,743 (GRCm39)	N209I	probably damaging	Het
Prickle2	T	G	6: 92,387,871 (GRCm39)	E566D	probably benign	Het
Pvr	A	G	7: 19,644,541 (GRCm39)	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,997,842 (GRCm39)		probably benign	Het
Rapgef4	T	A	2: 72,010,435 (GRCm39)	I331N	probably damaging	Het
Reg3g	C	T	6: 78,443,842 (GRCm39)	W122*	probably null	Het
Rlbp1	A	T	7: 79,031,428 (GRCm39)	I100N	probably damaging	Het
Rnf213	T	A	11: 119,334,405 (GRCm39)	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Rtl6	G	T	15: 84,441,181 (GRCm39)	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,785,053 (GRCm39)	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,356,045 (GRCm39)	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,925,214 (GRCm39)	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,688,865 (GRCm39)	T392A	probably damaging	Het
Spaca7	T	A	8: 12,635,742 (GRCm39)	I86K	probably benign	Het
Syt10	G	T	15: 89,698,659 (GRCm39)	D228E	probably benign	Het
Tbx3	T	A	5: 119,815,625 (GRCm39)	N308K	probably benign	Het
Telo2	A	G	17: 25,321,043 (GRCm39)	V724A	probably damaging	Het
Tfip11	T	C	5: 112,481,134 (GRCm39)	V370A	probably benign	Het
Thbs3	A	G	3: 89,132,587 (GRCm39)	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,644,401 (GRCm39)	I148V	not run	Het
Trbv14	T	A	6: 41,112,429 (GRCm39)	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,962 (GRCm39)	V2973A	probably damaging	Het
Ttn	T	C	2: 76,624,828 (GRCm39)	D15250G	probably damaging	Het
Ubr2	G	A	17: 47,241,352 (GRCm39)	T1734I	probably benign	Het
Ush2a	G	T	1: 188,198,321 (GRCm39)	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,841,525 (GRCm39)	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,747,728 (GRCm39)	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,155,244 (GRCm39)	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,854,493 (GRCm39)	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,253,874 (GRCm39)	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,275,916 (GRCm39)	M87T	probably benign	Het

Other mutations in Rigi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTAACTTAAGGACAGCGCGG -3'
(R):5'- GTCTAGGTTCAGAAACGAAACTG -3'

Sequencing Primer
(F):5'- GGCAGAGCCTTCAATTG -3'
(R):5'- CTAGGTTCAGAAACGAAACTGGATCC -3'

Posted On

2019-09-13