Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Dhx58'

24059

Institutional Source

Beutler Lab

Gene Symbol

Dhx58

Ensembl Gene

ENSMUSG00000017830

Gene Name

DEXH (Asp-Glu-X-His) box polypeptide 58

Synonyms

D11Lgp2e, B430001I08Rik, LPG2

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

100694884-100704271 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100695324 bp (GRCm38)

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (85/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159 (GRCm38)		probably benign	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,794,578 (GRCm38)		probably null	Het
4930522L14Rik	T	C	5: 109,736,847 (GRCm38)	K382E	probably damaging	Het
Adck1	A	G	12: 88,455,510 (GRCm38)	E297G	probably damaging	Het
Ahrr	G	A	13: 74,283,024 (GRCm38)		probably benign	Het
Aldh3a2	C	T	11: 61,248,888 (GRCm38)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,647,915 (GRCm38)	I369K	possibly damaging	Het
Atl2	A	G	17: 79,853,831 (GRCm38)		probably benign	Het
Atp1b3	T	C	9: 96,338,709 (GRCm38)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,378,386 (GRCm38)	E520G	possibly damaging	Het
Bahcc1	A	T	11: 120,285,074 (GRCm38)		probably benign	Het
BB019430	A	T	10: 58,704,271 (GRCm38)		noncoding transcript	Het
BC028528	A	T	3: 95,887,334 (GRCm38)		probably benign	Het
Btbd1	T	A	7: 81,801,003 (GRCm38)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,339,475 (GRCm38)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,919,210 (GRCm38)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,915,523 (GRCm38)		probably null	Het
Cstdc7	T	A	18: 42,173,543 (GRCm38)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,302,543 (GRCm38)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,364,331 (GRCm38)		noncoding transcript	Het
Dcaf1	T	A	9: 106,844,145 (GRCm38)	S379T	possibly damaging	Het
Dcaf4	G	A	12: 83,535,988 (GRCm38)		probably benign	Het
Disp3	T	C	4: 148,254,251 (GRCm38)	E821G	probably damaging	Het
Dlc1	T	A	8: 36,599,440 (GRCm38)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,783,834 (GRCm38)	V2151I	probably damaging	Het
Dnah6	C	T	6: 73,188,535 (GRCm38)		probably benign	Het
Dnah8	G	A	17: 30,748,665 (GRCm38)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,918,804 (GRCm38)	E872*	probably null	Het
Dock9	T	C	14: 121,597,665 (GRCm38)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,716,646 (GRCm38)	I310F	probably damaging	Het
Fggy	A	T	4: 95,837,654 (GRCm38)	I137F	probably damaging	Het
Gli2	A	G	1: 118,890,283 (GRCm38)		probably benign	Het
Gm14421	A	T	2: 177,056,722 (GRCm38)		noncoding transcript	Het
Grin2a	A	G	16: 9,994,821 (GRCm38)		probably null	Het
Grin2b	A	G	6: 135,778,648 (GRCm38)		probably benign	Het
Incenp	A	G	19: 9,894,879 (GRCm38)	S72P	probably benign	Het
Ipo11	A	G	13: 106,910,194 (GRCm38)		probably benign	Het
Klc3	T	A	7: 19,394,926 (GRCm38)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,247,505 (GRCm38)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,680,600 (GRCm38)	T93I	probably benign	Het
Ltn1	G	A	16: 87,405,519 (GRCm38)		probably benign	Het
Mlycd	A	T	8: 119,407,641 (GRCm38)	Q294L	probably damaging	Het
Mmrn1	T	A	6: 60,975,815 (GRCm38)		probably benign	Het
Mrpl22	T	A	11: 58,171,821 (GRCm38)	I19N	probably benign	Het
Msh3	T	A	13: 92,349,209 (GRCm38)	K202N	probably damaging	Het
N4bp2	T	C	5: 65,803,573 (GRCm38)		probably benign	Het
Ncam1	C	T	9: 49,568,409 (GRCm38)	D90N	probably damaging	Het
Nckap5	A	T	1: 126,024,407 (GRCm38)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,186,731 (GRCm38)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,408,291 (GRCm38)		probably null	Het
Nlrp1b	A	T	11: 71,164,099 (GRCm38)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,469,150 (GRCm38)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,890,445 (GRCm38)	L44P	probably damaging	Het
Ost4	T	C	5: 30,907,459 (GRCm38)	H26R	probably damaging	Het
Otog	G	A	7: 46,304,231 (GRCm38)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,874,530 (GRCm38)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,470,186 (GRCm38)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,329,119 (GRCm38)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,887,089 (GRCm38)		probably null	Het
Rnf157	A	G	11: 116,354,810 (GRCm38)		probably benign	Het
Scmh1	T	C	4: 120,529,865 (GRCm38)		probably benign	Het
Sgo2b	T	C	8: 63,938,383 (GRCm38)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,829,037 (GRCm38)	T5P	probably damaging	Het
Skint6	A	T	4: 112,991,236 (GRCm38)		probably benign	Het
Slfn10-ps	T	C	11: 83,035,302 (GRCm38)		noncoding transcript	Het
Sspo	T	A	6: 48,494,194 (GRCm38)		probably benign	Het
Tcp1	T	A	17: 12,922,747 (GRCm38)		probably benign	Het
Tdp2	A	G	13: 24,838,239 (GRCm38)	M214V	probably damaging	Het
Tenm4	T	G	7: 96,729,340 (GRCm38)		probably benign	Het
Tmem144	G	A	3: 79,839,273 (GRCm38)		probably benign	Het
Tmem204	A	G	17: 25,058,350 (GRCm38)	I187T	probably damaging	Het
Tmem208	T	G	8: 105,334,694 (GRCm38)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 85,059,221 (GRCm38)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 57,147,821 (GRCm38)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,379,895 (GRCm38)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,507,953 (GRCm38)	C146S	probably damaging	Het
Ubac2	A	G	14: 122,008,917 (GRCm38)		probably benign	Het
Ube4b	G	T	4: 149,360,324 (GRCm38)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm38)	Y504N	probably benign	Het
Ugt1a6a	T	C	1: 88,139,270 (GRCm38)	V266A	possibly damaging	Het
Ugt1a6b	T	A	1: 88,107,467 (GRCm38)	C176S	probably damaging	Het
Ulk3	T	A	9: 57,590,686 (GRCm38)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,694,892 (GRCm38)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,265,717 (GRCm38)	A182T	probably benign	Het
Vmn2r114	A	G	17: 23,309,826 (GRCm38)		probably null	Het
Vmn2r91	A	C	17: 18,106,137 (GRCm38)	N228T	probably benign	Het
Wdr43	T	G	17: 71,631,997 (GRCm38)		probably benign	Het
Zbtb6	G	T	2: 37,429,588 (GRCm38)	Y109*	probably null	Het
Zfp980	A	G	4: 145,701,997 (GRCm38)	D432G	probably benign	Het

Other mutations in Dhx58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Dhx58	APN	11	100,703,926 (GRCm38)	missense	probably damaging	0.97
IGL02476:Dhx58	APN	11	100,702,264 (GRCm38)	missense	probably benign	0.00
R0103:Dhx58	UTSW	11	100,695,270 (GRCm38)	missense	probably damaging	1.00
R0103:Dhx58	UTSW	11	100,695,270 (GRCm38)	missense	probably damaging	1.00
R0137:Dhx58	UTSW	11	100,696,997 (GRCm38)	missense	probably damaging	0.99
R0164:Dhx58	UTSW	11	100,695,324 (GRCm38)	missense	probably benign	0.42
R0369:Dhx58	UTSW	11	100,701,548 (GRCm38)	critical splice donor site	probably null
R0390:Dhx58	UTSW	11	100,699,264 (GRCm38)	missense	probably damaging	1.00
R0606:Dhx58	UTSW	11	100,702,251 (GRCm38)	missense	probably benign	0.00
R1710:Dhx58	UTSW	11	100,703,574 (GRCm38)	missense	probably benign	0.20
R1816:Dhx58	UTSW	11	100,703,152 (GRCm38)	missense	probably damaging	0.98
R1993:Dhx58	UTSW	11	100,703,490 (GRCm38)	splice site	probably null
R2281:Dhx58	UTSW	11	100,698,154 (GRCm38)	critical splice donor site	probably null
R3176:Dhx58	UTSW	11	100,696,979 (GRCm38)	missense	probably damaging	1.00
R3276:Dhx58	UTSW	11	100,696,979 (GRCm38)	missense	probably damaging	1.00
R4651:Dhx58	UTSW	11	100,701,359 (GRCm38)	missense	probably damaging	1.00
R4652:Dhx58	UTSW	11	100,701,359 (GRCm38)	missense	probably damaging	1.00
R4716:Dhx58	UTSW	11	100,696,971 (GRCm38)	splice site	probably null
R5030:Dhx58	UTSW	11	100,696,137 (GRCm38)	missense	probably damaging	1.00
R5082:Dhx58	UTSW	11	100,696,976 (GRCm38)	missense	probably benign	0.29
R5098:Dhx58	UTSW	11	100,695,173 (GRCm38)	missense	probably benign
R5394:Dhx58	UTSW	11	100,698,208 (GRCm38)	missense	probably benign	0.00
R5397:Dhx58	UTSW	11	100,703,920 (GRCm38)	missense	probably damaging	1.00
R5787:Dhx58	UTSW	11	100,701,319 (GRCm38)	missense	possibly damaging	0.91
R5975:Dhx58	UTSW	11	100,702,209 (GRCm38)	missense	probably damaging	0.98
R6310:Dhx58	UTSW	11	100,699,367 (GRCm38)	missense	probably benign	0.01
R6935:Dhx58	UTSW	11	100,698,406 (GRCm38)	splice site	probably null
R7311:Dhx58	UTSW	11	100,698,171 (GRCm38)	missense	probably benign
R7908:Dhx58	UTSW	11	100,695,304 (GRCm38)	missense	probably damaging	0.99
R8317:Dhx58	UTSW	11	100,703,562 (GRCm38)	missense	probably damaging	1.00
R8821:Dhx58	UTSW	11	100,703,980 (GRCm38)	missense	probably damaging	1.00
R8831:Dhx58	UTSW	11	100,703,980 (GRCm38)	missense	probably damaging	1.00
R9717:Dhx58	UTSW	11	100,701,307 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGGGTCAGTCCAGGGAGAGC -3'
(R):5'- GTCGTCACCCCAGGTGGGAA -3'

Sequencing Primer
(F):5'- AGCTCAGACAGGCTTTGTG -3'
(R):5'- caaccaacatcatccaaccac -3'

Posted On

2013-04-16