Mutagenetix > Incidental Mutations

Incidental Mutation 'R4860:Ddx58'

372385

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

042471-MU

Accession Numbers

Genbank: NM_172689; MGI:2442858

Is this an essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40203773-40239828 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40210000 bp

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]

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: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,423	S466P	possibly damaging	Het
1700061G19Rik	A	G	17: 56,888,655	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368	E41G	probably benign	Het
Akr1d1	G	A	6: 37,564,491	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,167	E731G	probably damaging	Het
Ctsh	A	G	9: 90,054,548	E26G	probably benign	Het
Cul1	G	T	6: 47,517,146	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232	D373E	probably benign	Het
Dhcr7	A	G	7: 143,840,500	Q126R	probably benign	Het
Dok2	T	C	14: 70,777,516	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189	I314L	probably benign	Het
Eps8	A	G	6: 137,514,295	F362L	probably damaging	Het
Espn	G	T	4: 152,138,846	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674	S36*	probably null	Het
Fam71e2	C	T	7: 4,757,469		probably null	Het
Fcho1	C	T	8: 71,710,481	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508	Y130*	probably null	Het
Gvin1	A	T	7: 106,163,436	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842	D586G	probably damaging	Het
Klhl25	T	C	7: 75,867,050	I568T	probably benign	Het
Larp6	A	G	9: 60,737,810	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,635,194	T1128I	probably benign	Het
Nrg2	T	A	18: 36,196,547	Y205F	probably damaging	Het
Nubp2	A	G	17: 24,884,456	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,537,378	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,990,514	T91A	probably benign	Het
Ptger4	G	T	15: 5,242,606	N177K	probably benign	Het
Reln	A	G	5: 21,901,751	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504	V39A	probably benign	Het
Sorbs1	T	C	19: 40,337,005	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474	T586A	probably benign	Het
Tbce	T	A	13: 14,019,795	D93V	probably damaging	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Tle4	A	T	19: 14,464,345	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055		probably benign	Het
Tubgcp3	T	C	8: 12,649,722	K377R	probably benign	Het
Ush2a	A	T	1: 188,553,275	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,401,803	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,275,601	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,385,843	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785	E103G	possibly damaging	Het
Zfp870	A	T	17: 32,883,340	C339*	probably null	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
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
R7759:Ddx58	UTSW	4	40225104	missense	probably damaging	1.00
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

Predicted Primers

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

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

Posted On

2016-03-01