Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Ddx58'

597712

Institutional Source

Beutler Lab

Gene Symbol

Ddx58

Ensembl Gene

ENSMUSG00000040296

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 58

Synonyms

RIG-I, 6430573D20Rik

MMRRC Submission

Accession Numbers

Genbank: NM_172689; MGI:2442858

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40203773-40239828 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 40225104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 298 (A298S)

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 damaging
Transcript: ENSMUST00000037907
AA Change: A298S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: A298S

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 damaging
Transcript: ENSMUST00000142055
AA Change: A253S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296
AA Change: A253S

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: 99.7%
20x: 99.0%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,864,650	G215V	probably benign	Het
Adamts1	C	A	16: 85,797,795	G652C	probably damaging	Het
Adck1	G	A	12: 88,402,117	A122T	possibly damaging	Het
Akap1	A	C	11: 88,845,833	M34R	probably damaging	Het
Apc2	C	T	10: 80,311,196	R695C	probably damaging	Het
Apon	T	A	10: 128,254,515	W21R	probably benign	Het
Arhgef16	T	C	4: 154,286,975	T254A	probably benign	Het
Arid5b	T	A	10: 68,097,802	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,016,785	I122L	possibly damaging	Het
Bckdhb	T	G	9: 84,010,326	V270G	probably damaging	Het
Cacna1d	A	G	14: 30,099,188	Y1146H	probably benign	Het
Carmil2	A	G	8: 105,697,036	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,107,931	V636A	probably benign	Het
Chd9	T	C	8: 90,977,550		probably null	Het
Csmd3	A	G	15: 47,698,173	S1336P		Het
Cubn	A	G	2: 13,348,150	Y1926H	probably damaging	Het
Dock4	A	T	12: 40,817,736	D1437V	probably damaging	Het
Eme1	A	T	11: 94,645,840	Y504*	probably null	Het
Enah	G	A	1: 181,918,444	A687V	unknown	Het
Endou	A	C	15: 97,713,866	V339G	probably damaging	Het
Ephb6	G	A	6: 41,614,605	R232H	probably benign	Het
Ephx2	G	A	14: 66,089,519	A409V	possibly damaging	Het
Esd	T	A	14: 74,745,567	C219*	probably null	Het
Fscb	A	T	12: 64,474,092	M200K	probably benign	Het
Gabra6	A	T	11: 42,317,681	V108D	probably damaging	Het
Gm11555	A	G	11: 99,649,742	V137A	unknown	Het
Gpld1	A	G	13: 24,962,400	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,769,256	I408N	probably damaging	Het
Itgb4	A	G	11: 116,003,710	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,678,944	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,363,593	W440R	probably benign	Het
Mtrr	C	T	13: 68,570,027	E373K	probably damaging	Het
Mug2	T	A	6: 122,081,358	V1293E	probably damaging	Het
Myof	C	A	19: 37,939,898	A1068S	probably benign	Het
Ncam2	A	G	16: 81,615,784	D720G	probably damaging	Het
Nova2	G	T	7: 18,958,251	G435V		Het
Oacyl	T	A	18: 65,710,560	D109E	probably damaging	Het
Olfr1393	A	T	11: 49,280,636	M163L	probably benign	Het
Olfr684	G	A	7: 105,157,025	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,299,926	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,904,113	D364E	probably benign	Het
Rp1	T	C	1: 4,344,884	N2002D	probably benign	Het
Sall1	C	T	8: 89,042,351		probably null	Het
Scn10a	C	T	9: 119,648,132	W728*	probably null	Het
Setdb2	G	T	14: 59,419,364	T168K	probably damaging	Het
Sgms1	T	C	19: 32,159,876	I97V	probably benign	Het
Slc8a3	A	T	12: 81,314,551	M498K	probably benign	Het
Smpd4	A	T	16: 17,638,633	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,937,530	K881*	probably null	Het
Strn4	A	G	7: 16,830,384	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,893,927	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,624,839	R1773S	probably benign	Het
Thbs2	T	C	17: 14,677,059	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,670,835	T135I	probably damaging	Het
Tollip	A	G	7: 141,884,539	M218T	probably benign	Het
Tyk2	A	T	9: 21,120,258		probably null	Het
Ubr2	G	A	17: 46,986,048	R269C	probably damaging	Het
Uggt1	A	T	1: 36,146,725	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,334,080	V929A	probably benign	Het
Usp48	T	C	4: 137,594,452	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,034,461	E42K	not run	Het
Vmn1r83	G	T	7: 12,321,433	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,823,380	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,556,570	I281T	probably damaging	Het
Ywhag	A	T	5: 135,911,189	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,308,376	E1971D	possibly damaging	Het
Zfp568	G	A	7: 30,023,414	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083	D248G	probably benign	Het

Other mutations in Ddx58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Ddx58	APN	4	40220389	splice site	probably benign
IGL01344:Ddx58	APN	4	40208883	missense	probably damaging	0.99
IGL01414:Ddx58	APN	4	40222176	missense	probably damaging	1.00
IGL01529:Ddx58	APN	4	40225685	missense	probably benign
IGL01756:Ddx58	APN	4	40209934	missense	probably damaging	1.00
IGL02023:Ddx58	APN	4	40216487	missense	possibly damaging	0.76
IGL02223:Ddx58	APN	4	40209993	missense	possibly damaging	0.48
IGL02458:Ddx58	APN	4	40229536	missense	probably damaging	0.98
IGL02937:Ddx58	APN	4	40229661	missense	probably benign	0.00
IGL03358:Ddx58	APN	4	40206069	missense	possibly damaging	0.54
E2594:Ddx58	UTSW	4	40235282	nonsense	probably null
R0324:Ddx58	UTSW	4	40213766	missense	probably benign	0.24
R0400:Ddx58	UTSW	4	40235257	missense	probably benign	0.00
R0518:Ddx58	UTSW	4	40216354	critical splice donor site	probably null
R0834:Ddx58	UTSW	4	40239596	missense	possibly damaging	0.64
R1474:Ddx58	UTSW	4	40208868	missense	possibly damaging	0.62
R1611:Ddx58	UTSW	4	40223862	missense	probably damaging	1.00
R1803:Ddx58	UTSW	4	40224013	missense	probably benign	0.00
R1906:Ddx58	UTSW	4	40206054	missense	probably benign	0.01
R2072:Ddx58	UTSW	4	40224069	splice site	probably null
R4696:Ddx58	UTSW	4	40203798	unclassified	probably benign
R4860:Ddx58	UTSW	4	40210000	missense	probably damaging	0.97
R4860:Ddx58	UTSW	4	40210000	missense	probably damaging	0.97
R5027:Ddx58	UTSW	4	40208845	missense	probably benign
R5568:Ddx58	UTSW	4	40222140	missense	probably benign
R6144:Ddx58	UTSW	4	40229551	missense	probably benign	0.21
R6341:Ddx58	UTSW	4	40222199	critical splice acceptor site	probably null
R6373:Ddx58	UTSW	4	40216487	missense	possibly damaging	0.76
R6454:Ddx58	UTSW	4	40220456	missense	probably damaging	0.99
R6456:Ddx58	UTSW	4	40213838	missense	possibly damaging	0.73
R6523:Ddx58	UTSW	4	40205947	missense	probably benign	0.00
R6593:Ddx58	UTSW	4	40226651	missense	probably benign	0.02
R6741:Ddx58	UTSW	4	40211624	missense	probably damaging	1.00
R6964:Ddx58	UTSW	4	40225697	missense	probably benign	0.00
R7149:Ddx58	UTSW	4	40222079	missense	possibly damaging	0.64
R7159:Ddx58	UTSW	4	40213804	missense	probably benign	0.29
R7237:Ddx58	UTSW	4	40205938	missense	probably benign	0.10
R7352:Ddx58	UTSW	4	40239668	missense	probably benign	0.00
R7356:Ddx58	UTSW	4	40226600	missense	probably benign	0.01
R7611:Ddx58	UTSW	4	40225651	missense	probably damaging	1.00
R7615:Ddx58	UTSW	4	40229653	missense	possibly damaging	0.59
R7729:Ddx58	UTSW	4	40206034	missense	possibly damaging	0.53
R7800:Ddx58	UTSW	4	40211618	missense	probably benign	0.35
R7965:Ddx58	UTSW	4	40223824	nonsense	probably null
R7976:Ddx58	UTSW	4	40209894	missense	probably damaging	1.00
R8531:Ddx58	UTSW	4	40225596	critical splice donor site	probably null
R8978:Ddx58	UTSW	4	40239650	missense	probably damaging	0.99
R8994:Ddx58	UTSW	4	40205941	nonsense	probably null
R9052:Ddx58	UTSW	4	40208459	missense	probably benign	0.03
R9164:Ddx58	UTSW	4	40208827	missense	probably damaging	0.99
R9394:Ddx58	UTSW	4	40213831	missense	probably damaging	0.98
R9431:Ddx58	UTSW	4	40229545	missense	probably benign	0.00
R9645:Ddx58	UTSW	4	40220437	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GGCTACGTGATACACTGTCTCAG -3'
(R):5'- TCCCAGTGGTCATAGAGAAGC -3'

Sequencing Primer
(F):5'- TACGTGATACACTGTCTCAGAAAAC -3'
(R):5'- GAAGCCAAAATAAGTACCATTCTGG -3'

Posted On

2019-11-26