Mutagenetix > Incidental Mutation

Incidental Mutation 'R5027:Rigi'

391414

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

042618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R5027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40203773-40239828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40208845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 756 (M756L)

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: M756L

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

SMART Domains

Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: M756L

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

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 benign
Transcript: ENSMUST00000142055

SMART Domains

Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296

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

Meta Mutation Damage Score

0.0968

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (97/100)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 119,911,505 (GRCm39)	I1363R	probably benign	Het
Abcc1	T	C	16: 14,221,917 (GRCm39)		probably null	Het
Adgrf1	T	A	17: 43,614,638 (GRCm39)	F241I	probably damaging	Het
Afg3l1	T	C	8: 124,216,553 (GRCm39)	M264T	probably benign	Het
Ankle1	T	C	8: 71,861,623 (GRCm39)	S434P	probably damaging	Het
Apoe	C	T	7: 19,430,940 (GRCm39)	A101T	probably damaging	Het
Apol11a	G	T	15: 77,401,153 (GRCm39)	K213N	probably damaging	Het
Asap2	A	G	12: 21,254,082 (GRCm39)	M198V	probably damaging	Het
Atg4b	C	T	1: 93,714,297 (GRCm39)	A360V	probably benign	Het
B3gnt5	T	A	16: 19,588,444 (GRCm39)	V221D	probably damaging	Het
Baz2b	A	T	2: 59,928,988 (GRCm39)		probably benign	Het
Cep350	C	A	1: 155,809,100 (GRCm39)	W492L	probably benign	Het
Cln6	A	G	9: 62,754,375 (GRCm39)	Y139C	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Cul9	C	T	17: 46,811,708 (GRCm39)	E2507K	probably damaging	Het
Dgkz	A	T	2: 91,775,888 (GRCm39)	V125D	probably benign	Het
Dnah17	T	C	11: 117,993,365 (GRCm39)	M1127V	probably benign	Het
Dnajb1	C	A	8: 84,336,732 (GRCm39)	D67E	probably benign	Het
Dync1li1	A	G	9: 114,542,612 (GRCm39)	D258G	probably damaging	Het
Egflam	G	T	15: 7,283,125 (GRCm39)	P311T	probably benign	Het
Fbxw11	T	A	11: 32,602,811 (GRCm39)		probably benign	Het
Fn3krp	T	G	11: 121,320,274 (GRCm39)	D206E	probably benign	Het
Fsip2	A	G	2: 82,819,477 (GRCm39)	H5070R	possibly damaging	Het
Gm6605	T	C	7: 38,149,683 (GRCm39)		noncoding transcript	Het
Gna14	C	A	19: 16,580,636 (GRCm39)	T158K	probably benign	Het
Gstt2	A	T	10: 75,667,726 (GRCm39)	I243N	probably damaging	Het
Haus6	C	T	4: 86,523,933 (GRCm39)	D50N	possibly damaging	Het
Hcrtr2	A	G	9: 76,230,578 (GRCm39)	I70T	probably benign	Het
Herc1	G	A	9: 66,380,811 (GRCm39)	V3563I	probably benign	Het
Herc1	A	T	9: 66,411,900 (GRCm39)	I4707F	probably damaging	Het
Hic2	C	T	16: 17,076,611 (GRCm39)	A480V	possibly damaging	Het
Hsd17b3	A	G	13: 64,210,720 (GRCm39)	Y212H	probably damaging	Het
Hspa5	A	G	2: 34,665,827 (GRCm39)	K557R	probably damaging	Het
Iqch	T	C	9: 63,432,294 (GRCm39)	E367G	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lars2	A	G	9: 123,270,560 (GRCm39)	M551V	probably benign	Het
Lbp	T	C	2: 158,150,646 (GRCm39)	I57T	possibly damaging	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Litaf	T	C	16: 10,778,868 (GRCm39)	Q142R	possibly damaging	Het
Lpar5	G	C	6: 125,059,110 (GRCm39)	R277P	possibly damaging	Het
Muc6	T	A	7: 141,216,349 (GRCm39)	I2710F	probably benign	Het
Myo7b	T	A	18: 32,108,265 (GRCm39)	I1199F	probably benign	Het
Naca	A	C	10: 127,883,990 (GRCm39)	E2140D	possibly damaging	Het
Nup214	G	T	2: 31,881,329 (GRCm39)	G396C	probably damaging	Het
Or2v1	A	T	11: 49,025,451 (GRCm39)	Q144L	probably benign	Het
Or5aq7	T	A	2: 86,938,150 (GRCm39)	I194F	probably benign	Het
Or5j3	G	A	2: 86,128,540 (GRCm39)	V127I	possibly damaging	Het
Or7g33	A	G	9: 19,448,573 (GRCm39)	Y218H	probably damaging	Het
Or8b57	A	T	9: 40,003,690 (GRCm39)	S187T	probably damaging	Het
P4htm	A	G	9: 108,456,492 (GRCm39)	V436A	probably benign	Het
Pfkm	A	G	15: 98,017,307 (GRCm39)	I117V	possibly damaging	Het
Phlpp1	T	G	1: 106,209,201 (GRCm39)	V518G	probably damaging	Het
Piwil4	G	A	9: 14,621,240 (GRCm39)	L598F	probably damaging	Het
Polr1b	T	G	2: 128,965,803 (GRCm39)	I815R	possibly damaging	Het
Ppef2	T	C	5: 92,382,150 (GRCm39)	N515S	probably damaging	Het
Prp2rt	A	G	13: 97,235,648 (GRCm39)	I33T	probably benign	Het
Prpsap2	G	T	11: 61,631,830 (GRCm39)		probably null	Het
Rab27a	A	G	9: 73,002,695 (GRCm39)	D208G	probably benign	Het
Ralgds	A	G	2: 28,442,102 (GRCm39)		probably null	Het
Raph1	C	A	1: 60,535,436 (GRCm39)	C540F	probably damaging	Het
Rbsn	A	G	6: 92,175,231 (GRCm39)	L281P	probably damaging	Het
Rmdn1	G	T	4: 19,588,533 (GRCm39)	G110*	probably null	Het
Rph3a	T	A	5: 121,092,512 (GRCm39)	E363V	possibly damaging	Het
Serpina16	G	T	12: 103,641,262 (GRCm39)	Y154*	probably null	Het
Sh2d3c	G	A	2: 32,634,814 (GRCm39)	E198K	possibly damaging	Het
Shank2	C	A	7: 143,812,842 (GRCm39)	Y663*	probably null	Het
Sharpin	T	C	15: 76,234,225 (GRCm39)		probably benign	Het
Slitrk1	G	A	14: 109,149,740 (GRCm39)	P324S	probably benign	Het
Sorbs2	T	A	8: 46,199,571 (GRCm39)		probably null	Het
Spag16	C	T	1: 69,962,963 (GRCm39)		probably benign	Het
Sycp2l	A	T	13: 41,283,247 (GRCm39)		probably null	Het
Synj1	A	T	16: 90,737,407 (GRCm39)		probably null	Het
Sytl1	T	C	4: 132,983,530 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,570,023 (GRCm39)		probably null	Het
Tnn	T	C	1: 159,972,781 (GRCm39)	T274A	probably damaging	Het
Trav14-2	T	A	14: 53,878,505 (GRCm39)	W35R	probably damaging	Het
Trim72	T	C	7: 127,607,137 (GRCm39)	M222T	probably damaging	Het
Trim9	A	G	12: 70,393,482 (GRCm39)	V154A	probably damaging	Het
Ttc7b	T	C	12: 100,268,001 (GRCm39)	Y266C	probably damaging	Het
Uchl3	T	A	14: 101,903,982 (GRCm39)	I43K	possibly damaging	Het
Vdac1	T	A	11: 52,279,305 (GRCm39)	N269K	possibly damaging	Het
Wdr72	T	A	9: 74,053,258 (GRCm39)	W187R	probably damaging	Het
Zfp30	T	A	7: 29,492,491 (GRCm39)	C248*	probably null	Het
Zfp940	A	T	7: 29,550,381 (GRCm39)		probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	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
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

Predicted Primers

PCR Primer
(F):5'- ATGCGGTGAACCTACATGCG -3'
(R):5'- GCAGTGAATCAAAGTTGAACTCG -3'

Sequencing Primer
(F):5'- CGGTGAACCTACATGCGAACAG -3'
(R):5'- AGTTGAACTCGAGAAATACTCCTC -3'

Posted On

2016-06-06