Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Dhx58'

24360

Institutional Source

Beutler Lab

Gene Symbol

Dhx58

Ensembl Gene

ENSMUSG00000017830

Gene Name

DExH-box helicase 58

Synonyms

D11Lgp2e, B430001I08Rik, LPG2

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100585710-100595097 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100586150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 624 (I624V)

Ref Sequence

ENSEMBL: ENSMUSP00000017974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017974] [ENSMUST00000153494]

AlphaFold

Q99J87

Predicted Effect

probably benign
Transcript: ENSMUST00000017974
AA Change: I624V

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000017974
Gene: ENSMUSG00000017830
AA Change: I624V

Domain	Start	End	E-Value	Type
DEXDc	2	207	2.86e-22	SMART
HELICc	387	475	3.85e-14	SMART
Blast:HELICc	497	543	4e-12	BLAST
Pfam:RIG-I_C-RD	552	667	1.5e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149869

Predicted Effect

probably benign
Transcript: ENSMUST00000153494

SMART Domains

Protein: ENSMUSP00000115268
Gene: ENSMUSG00000014198

Domain	Start	End	E-Value	Type
Pfam:zf-met	42	67	6.4e-8	PFAM
low complexity region	79	102	N/A	INTRINSIC

Meta Mutation Damage Score

0.0779

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

69% (18/26)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to EMCV infection and decreased susceptibility to VSV infection. Mice homozygous for a different knock-out allele exhibit increased susceptibility to WNV infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gm14012	C	T	2: 128,079,936 (GRCm39)		noncoding transcript	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp640	C	A	13: 66,819,038 (GRCm39)		noncoding transcript	Het
Zfp640	G	T	13: 66,819,062 (GRCm39)		noncoding transcript	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	Het

Other mutations in Dhx58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Dhx58	APN	11	100,594,752 (GRCm39)	missense	probably damaging	0.97
IGL02476:Dhx58	APN	11	100,593,090 (GRCm39)	missense	probably benign	0.00
R0103:Dhx58	UTSW	11	100,586,096 (GRCm39)	missense	probably damaging	1.00
R0103:Dhx58	UTSW	11	100,586,096 (GRCm39)	missense	probably damaging	1.00
R0137:Dhx58	UTSW	11	100,587,823 (GRCm39)	missense	probably damaging	0.99
R0164:Dhx58	UTSW	11	100,586,150 (GRCm39)	missense	probably benign	0.42
R0369:Dhx58	UTSW	11	100,592,374 (GRCm39)	critical splice donor site	probably null
R0390:Dhx58	UTSW	11	100,590,090 (GRCm39)	missense	probably damaging	1.00
R0606:Dhx58	UTSW	11	100,593,077 (GRCm39)	missense	probably benign	0.00
R1710:Dhx58	UTSW	11	100,594,400 (GRCm39)	missense	probably benign	0.20
R1816:Dhx58	UTSW	11	100,593,978 (GRCm39)	missense	probably damaging	0.98
R1993:Dhx58	UTSW	11	100,594,316 (GRCm39)	splice site	probably null
R2281:Dhx58	UTSW	11	100,588,980 (GRCm39)	critical splice donor site	probably null
R3176:Dhx58	UTSW	11	100,587,805 (GRCm39)	missense	probably damaging	1.00
R3276:Dhx58	UTSW	11	100,587,805 (GRCm39)	missense	probably damaging	1.00
R4651:Dhx58	UTSW	11	100,592,185 (GRCm39)	missense	probably damaging	1.00
R4652:Dhx58	UTSW	11	100,592,185 (GRCm39)	missense	probably damaging	1.00
R4716:Dhx58	UTSW	11	100,587,797 (GRCm39)	splice site	probably null
R5030:Dhx58	UTSW	11	100,586,963 (GRCm39)	missense	probably damaging	1.00
R5082:Dhx58	UTSW	11	100,587,802 (GRCm39)	missense	probably benign	0.29
R5098:Dhx58	UTSW	11	100,585,999 (GRCm39)	missense	probably benign
R5394:Dhx58	UTSW	11	100,589,034 (GRCm39)	missense	probably benign	0.00
R5397:Dhx58	UTSW	11	100,594,746 (GRCm39)	missense	probably damaging	1.00
R5787:Dhx58	UTSW	11	100,592,145 (GRCm39)	missense	possibly damaging	0.91
R5975:Dhx58	UTSW	11	100,593,035 (GRCm39)	missense	probably damaging	0.98
R6310:Dhx58	UTSW	11	100,590,193 (GRCm39)	missense	probably benign	0.01
R6935:Dhx58	UTSW	11	100,589,232 (GRCm39)	splice site	probably null
R7311:Dhx58	UTSW	11	100,588,997 (GRCm39)	missense	probably benign
R7908:Dhx58	UTSW	11	100,586,130 (GRCm39)	missense	probably damaging	0.99
R8317:Dhx58	UTSW	11	100,594,388 (GRCm39)	missense	probably damaging	1.00
R8821:Dhx58	UTSW	11	100,594,806 (GRCm39)	missense	probably damaging	1.00
R8831:Dhx58	UTSW	11	100,594,806 (GRCm39)	missense	probably damaging	1.00
R9717:Dhx58	UTSW	11	100,592,133 (GRCm39)	missense	probably benign	0.02

Predicted Primers

Posted On

2013-04-16