Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Ddx58'

541870

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

045074-MU

Accession Numbers

Genbank: NM_172689; MGI:2442858

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40203773-40239828 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40225697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 235 (S235P)

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: S235P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: S235P

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 benign
Transcript: ENSMUST00000142055
AA Change: S190P

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

SMART Domains

Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296
AA Change: S190P

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: 99.9%
10x: 99.4%
20x: 97.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	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
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
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'- GGGAAAACTCCTCCTTTTACAGC -3'
(R):5'- GAATTAGGCCATTCTTGCTGTCC -3'

Sequencing Primer
(F):5'- TCCTTTTACAGCCCCCAAAGG -3'
(R):5'- TTCAGCGTTTAAGAGCACCG -3'

Posted On

2018-11-28