Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Rigi'

380150

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

042471-MU

Accession Numbers

Essential gene?

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

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40203773-40239828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40210000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 644 (S644R)

Ref Sequence

ENSEMBL: ENSMUSP00000115052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037907] [ENSMUST00000142055]

AlphaFold

Q6Q899

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037907
AA Change: S689R

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: S689R

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 damaging
Transcript: ENSMUST00000142055
AA Change: S644R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296
AA Change: S644R

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

94% (98/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akap9	G	A	5: 4,084,916 (GRCm39)		probably benign	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dnd1	C	T	18: 36,899,016 (GRCm39)		probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Grm6	C	T	11: 50,755,439 (GRCm39)	T857M	probably benign	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Ilkap	A	G	1: 91,315,105 (GRCm39)		probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl22	G	A	16: 17,594,880 (GRCm39)		silent	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Krr1	C	T	10: 111,821,596 (GRCm39)		probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nsmce4a	A	T	7: 130,135,321 (GRCm39)		probably benign	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pik3r6	T	A	11: 68,434,879 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Snapc3	C	T	4: 83,383,134 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tango2	A	G	16: 18,128,765 (GRCm39)		silent	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ulk4	G	A	9: 121,079,968 (GRCm39)	T497M	possibly damaging	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp384	G	A	6: 125,007,893 (GRCm39)		silent	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GAGTACCAGAGTCAGCTGTG -3'
(R):5'- TTAACGAGAATGGTGAAACCTGAGC -3'

Sequencing Primer
(F):5'- AGCTGTGCTGTCAATCACATG -3'
(R):5'- GTGAGTTGTACAGTGACCTC -3'

Posted On

2016-04-15