Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Dhx58'

471707

Institutional Source

Beutler Lab

Gene Symbol

Dhx58

Ensembl Gene

ENSMUSG00000017830

Gene Name

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

Synonyms

D11Lgp2e, B430001I08Rik, LPG2

Accession Numbers

Essential gene?

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

Stock #

R5975 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

100694884-100704271 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100702209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 224 (R224L)

Ref Sequence

ENSEMBL: ENSMUSP00000017974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017974] [ENSMUST00000103118]

AlphaFold

Q99J87

Predicted Effect

probably benign
Transcript: ENSMUST00000006973

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918

Domain	Start	End	E-Value	Type
low complexity region	21	72	N/A	INTRINSIC
Pfam:PCAF_N	81	332	1.2e-155	PFAM
low complexity region	398	417	N/A	INTRINSIC
Pfam:Acetyltransf_7	538	621	5e-13	PFAM
Pfam:Acetyltransf_1	545	620	3.2e-11	PFAM
low complexity region	659	675	N/A	INTRINSIC
BROMO	718	826	6.87e-38	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000017974
AA Change: R224L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017974
Gene: ENSMUSG00000017830
AA Change: R224L

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

probably benign
Transcript: ENSMUST00000103118

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918

Domain	Start	End	E-Value	Type
low complexity region	21	72	N/A	INTRINSIC
Pfam:PCAF_N	81	331	4.4e-120	PFAM
low complexity region	398	417	N/A	INTRINSIC
Pfam:Acetyltransf_7	539	622	1.2e-11	PFAM
Pfam:Acetyltransf_1	547	621	3.1e-11	PFAM
low complexity region	660	676	N/A	INTRINSIC
BROMO	719	827	6.87e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153526

Meta Mutation Damage Score

0.6452

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793	R680G	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fbxw15	A	T	9: 109,555,252	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	possibly damaging	Het

Other mutations in Dhx58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Dhx58	APN	11	100703926	missense	probably damaging	0.97
IGL02476:Dhx58	APN	11	100702264	missense	probably benign	0.00
R0103:Dhx58	UTSW	11	100695270	missense	probably damaging	1.00
R0103:Dhx58	UTSW	11	100695270	missense	probably damaging	1.00
R0137:Dhx58	UTSW	11	100696997	missense	probably damaging	0.99
R0164:Dhx58	UTSW	11	100695324	missense	probably benign	0.42
R0164:Dhx58	UTSW	11	100695324	missense	probably benign	0.42
R0369:Dhx58	UTSW	11	100701548	critical splice donor site	probably null
R0390:Dhx58	UTSW	11	100699264	missense	probably damaging	1.00
R0606:Dhx58	UTSW	11	100702251	missense	probably benign	0.00
R1710:Dhx58	UTSW	11	100703574	missense	probably benign	0.20
R1816:Dhx58	UTSW	11	100703152	missense	probably damaging	0.98
R1993:Dhx58	UTSW	11	100703490	splice site	probably null
R2281:Dhx58	UTSW	11	100698154	critical splice donor site	probably null
R3176:Dhx58	UTSW	11	100696979	missense	probably damaging	1.00
R3276:Dhx58	UTSW	11	100696979	missense	probably damaging	1.00
R4651:Dhx58	UTSW	11	100701359	missense	probably damaging	1.00
R4652:Dhx58	UTSW	11	100701359	missense	probably damaging	1.00
R4716:Dhx58	UTSW	11	100696971	splice site	probably null
R5030:Dhx58	UTSW	11	100696137	missense	probably damaging	1.00
R5082:Dhx58	UTSW	11	100696976	missense	probably benign	0.29
R5098:Dhx58	UTSW	11	100695173	missense	probably benign
R5394:Dhx58	UTSW	11	100698208	missense	probably benign	0.00
R5397:Dhx58	UTSW	11	100703920	missense	probably damaging	1.00
R5787:Dhx58	UTSW	11	100701319	missense	possibly damaging	0.91
R6310:Dhx58	UTSW	11	100699367	missense	probably benign	0.01
R6935:Dhx58	UTSW	11	100698406	splice site	probably null
R7311:Dhx58	UTSW	11	100698171	missense	probably benign
R7908:Dhx58	UTSW	11	100695304	missense	probably damaging	0.99
R8317:Dhx58	UTSW	11	100703562	missense	probably damaging	1.00
R8821:Dhx58	UTSW	11	100703980	missense	probably damaging	1.00
R8831:Dhx58	UTSW	11	100703980	missense	probably damaging	1.00
R9717:Dhx58	UTSW	11	100701307	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGACTATGGACTTGGGCTATGG -3'
(R):5'- TAACTTCCAGTGGAGTGGCC -3'

Sequencing Primer
(F):5'- GCTATGGGTGCCTCAAAGC -3'
(R):5'- GCTTTTCTGTCCTTAGCCAGG -3'

Posted On

2017-03-31