Mutagenetix > Incidental Mutations

Incidental Mutation 'R6341:Ddx58'

514374

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

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40203773-40239828 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 40222199 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115052 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000037907

SMART Domains

Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296

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: ENSMUST00000127026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139583

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149539

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 31,105,546	D658G	possibly damaging	Het
Amz2	A	G	11: 109,428,827	H13R	probably benign	Het
Ankrd27	G	T	7: 35,627,403		probably null	Het
Atp8a1	T	C	5: 67,682,927	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,658,739	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,648,114	S105P	probably damaging	Het
Cdh26	T	A	2: 178,471,573		probably null	Het
Cxcl10	T	C	5: 92,348,213	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,712,489	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,204,251	D594E	probably benign	Het
Ddx5	T	C	11: 106,785,542		probably null	Het
Duox1	T	C	2: 122,337,721	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,946,284		probably null	Het
Ecel1	A	G	1: 87,150,471		probably null	Het
Efcab6	T	G	15: 83,935,938	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,777,998	L464P	possibly damaging	Het
Fam129c	C	T	8: 71,600,077	P65L	probably damaging	Het
Fam234a	T	A	17: 26,213,693	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,088,145	V694A	probably damaging	Het
Gli2	T	C	1: 118,836,224	D1399G	probably damaging	Het
Gm10110	T	C	14: 89,896,708		noncoding transcript	Het
Hdac3	A	G	18: 37,944,164	L219P	probably damaging	Het
Hlcs	A	G	16: 94,231,163	F52S	probably damaging	Het
Ints7	C	A	1: 191,613,127	T643K	probably damaging	Het
Ireb2	A	G	9: 54,908,780	I878M	probably damaging	Het
Itga3	A	T	11: 95,055,851		probably null	Het
Lrfn5	T	A	12: 61,843,582	Y552*	probably null	Het
Mafb	T	C	2: 160,366,451	T76A	probably damaging	Het
Man2b1	A	T	8: 85,095,399	S748C	probably damaging	Het
Mmp15	G	T	8: 95,365,463		probably null	Het
Mmp17	A	T	5: 129,601,955	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,801,492	D1005V	probably damaging	Het
Myh3	T	C	11: 67,082,996	F165S	probably benign	Het
Nacc1	T	C	8: 84,674,791	D419G	probably benign	Het
Neb	G	A	2: 52,209,474	S4545L	probably damaging	Het
Npas2	T	C	1: 39,300,687	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr1448	T	C	19: 12,919,479	T277A	probably benign	Het
Pde4dip	T	A	3: 97,694,911	Q2283L	probably benign	Het
Phax	C	T	18: 56,573,101	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,102,829	K79*	probably null	Het
Pkd1	T	A	17: 24,580,227	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,541,148	R427C	probably damaging	Het
Ptprj	A	T	2: 90,458,349	F757L	probably benign	Het
Rad1	A	G	15: 10,492,821	D208G	probably damaging	Het
Rangrf	T	A	11: 68,972,712	N156I	probably benign	Het
Rasl11b	T	C	5: 74,198,376	S181P	probably damaging	Het
Rlf	G	A	4: 121,149,360	Q808*	probably null	Het
Rogdi	G	T	16: 5,013,377		probably null	Het
Sec24a	A	T	11: 51,717,776	V573D	probably damaging	Het
Sorbs2	A	G	8: 45,770,578	T200A	probably damaging	Het
Srgap2	C	T	1: 131,291,629	R259H	probably benign	Het
Ssc5d	T	A	7: 4,936,665	V700E	probably benign	Het
Stt3a	A	T	9: 36,751,296	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,597,259	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,490,048	R421H	probably damaging	Het
Top3b	T	C	16: 16,879,071	M62T	probably damaging	Het
Trhr	T	G	15: 44,229,298	Y310*	probably null	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Usp34	A	G	11: 23,381,353	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,929,066	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,472,010	M290K	probably benign	Het
Wdr75	T	C	1: 45,802,131		probably null	Het
Wnk1	A	T	6: 119,948,585	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,670,778	T191A	probably benign	Het
Zc3h15	A	G	2: 83,661,223	E265G	probably benign	Het
Zcchc9	A	G	13: 91,800,697	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,854,137	H247R	probably damaging	Het
Zfp433	A	G	10: 81,720,123	E152G	probably damaging	Het
Zfp770	A	T	2: 114,196,759	S276R	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
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

Predicted Primers

PCR Primer
(F):5'- TTACAAAGTCGCGAGGTGTG -3'
(R):5'- TATGAATGAGCCTGGAATGGAC -3'

Sequencing Primer
(F):5'- GGGCTGCTGACCTCCACTTAC -3'
(R):5'- AATGAGCCTGGAATGGACTTTTTC -3'

Posted On

2018-04-27