Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Ddx58'

227206

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

040077-MU

Accession Numbers

Genbank: NM_172689; MGI:2442858

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40203773-40239828 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 40224069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115052 (fasta)

Gene Model

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

AlphaFold

Q6Q899

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

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

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

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

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 63,898,737	R272P	possibly damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ablim3	A	T	18: 61,857,088	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Adamts13	C	A	2: 27,005,425	T1176N	probably benign	Het
Adgre5	T	C	8: 83,727,804	T357A	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,119,636	V310A	probably benign	Het
Bnipl	C	T	3: 95,244,211	G232E	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Cacna1s	G	A	1: 136,079,504	V173I	probably benign	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chrdl1	T	C	X: 143,303,418	I231V	probably benign	Het
Ciita	C	T	16: 10,518,353	T958I	probably benign	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,101,741	D240G	probably damaging	Het
Dlgap1	C	T	17: 70,662,770	R524C	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,275,252	M453V	probably benign	Het
Ednrb	G	T	14: 103,817,099	N432K	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Fez1	A	G	9: 36,867,945	K306R	probably benign	Het
Fmo4	A	G	1: 162,809,887	V12A	probably benign	Het
Fpgt	T	C	3: 155,087,874	Y172C	probably damaging	Het
Fsip2	T	A	2: 83,008,815	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477	R205*	probably null	Het
Grik5	A	T	7: 25,015,313	M752K	possibly damaging	Het
Herc2	A	G	7: 56,226,964	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,592,545	D439V	probably damaging	Het
Igsf3	A	G	3: 101,439,515	T609A	probably benign	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
Lgi2	A	G	5: 52,538,505	S371P	probably damaging	Het
March3	A	T	18: 56,811,853	V56E	possibly damaging	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,325,006	S683P	probably damaging	Het
Olfr1260	C	A	2: 89,978,213	T145K	probably benign	Het
Olfr1454	A	T	19: 13,063,680	M90L	probably benign	Het
Olfr527	T	C	7: 140,336,653	S264P	possibly damaging	Het
Onecut3	T	G	10: 80,495,014	L3V	unknown	Het
Otogl	C	T	10: 107,781,043	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,430,262	V128A	possibly damaging	Het
Pcnx2	A	T	8: 125,761,742	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,158,451	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,787,348		probably null	Het
Prune1	C	T	3: 95,255,408	R318Q	probably benign	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Psg27	A	G	7: 18,565,009	L129P	probably benign	Het
Psmc6	A	G	14: 45,329,866	K7E	possibly damaging	Het
Reln	A	T	5: 21,919,177	V2777E	probably damaging	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Slc5a5	C	T	8: 70,892,439	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smg1	T	C	7: 118,163,166		probably benign	Het
Smurf2	T	A	11: 106,841,769	Q335L	probably benign	Het
Sspo	A	T	6: 48,473,517	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syt1	A	G	10: 108,583,972	I276T	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar9	A	T	10: 24,108,979	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,882,965	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,458,867	T1091A	probably benign	Het
Ttn	G	T	2: 76,937,776	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,779,571		probably null	Het
Ube3c	A	G	5: 29,635,640	E671G	probably benign	Het
Upf3a	A	G	8: 13,785,850	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,275,072	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,922,452	R549*	probably null	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp747	T	A	7: 127,373,970	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,289,382	Q161L	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCGTGACTCTCCAAGTTTGTG -3'
(R):5'- TGTGATCAGCTATAACCTCTTGC -3'

Sequencing Primer
(F):5'- TGGTCTAGGTATCTGAACATGATC -3'
(R):5'- GATCAGCTATAACCTCTTGCATTTC -3'

Posted On

2014-09-17