Mutagenetix > Incidental Mutation

Incidental Mutation 'R1660:Dhx57'

186701

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57

Synonyms

MMRRC Submission

039696-MU

Accession Numbers

NCBI RefSeq: NM_001163759.1, NM_198942.2; MGI:2147067

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R1660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80245728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1257 (V1257I)

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038166] [ENSMUST00000086555]

AlphaFold

Q6P5D3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038166
AA Change: V1204I

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: V1204I

Domain	Start	End	E-Value	Type
low complexity region	6	50	N/A	INTRINSIC
low complexity region	116	125	N/A	INTRINSIC
UBA	129	166	1.04e-3	SMART
ZnF_C3H1	246	272	4.07e-6	SMART
low complexity region	357	368	N/A	INTRINSIC
low complexity region	381	390	N/A	INTRINSIC
low complexity region	423	432	N/A	INTRINSIC
DEXDc	490	678	1.27e-28	SMART
Blast:DEXDc	688	752	2e-28	BLAST
HELICc	810	918	3.22e-16	SMART
HA2	984	1074	1.64e-24	SMART
Pfam:OB_NTP_bind	1113	1262	1.5e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086555
AA Change: V1257I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: V1257I

Domain	Start	End	E-Value	Type
low complexity region	6	50	N/A	INTRINSIC
low complexity region	169	178	N/A	INTRINSIC
UBA	182	219	1.04e-3	SMART
ZnF_C3H1	299	325	4.07e-6	SMART
low complexity region	410	421	N/A	INTRINSIC
low complexity region	434	443	N/A	INTRINSIC
low complexity region	476	485	N/A	INTRINSIC
DEXDc	543	731	1.27e-28	SMART
Blast:DEXDc	741	805	1e-28	BLAST
HELICc	863	971	3.22e-16	SMART
HA2	1037	1127	1.64e-24	SMART
Pfam:OB_NTP_bind	1166	1315	8.5e-25	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	A	19: 31,893,107	S3*	probably null	Het
Adgrv1	C	T	13: 81,476,631	V3740I	probably benign	Het
Aida	T	C	1: 183,297,583	F22S	probably damaging	Het
Ankrd65	A	T	4: 155,792,071	D220V	probably damaging	Het
Antxr2	A	T	5: 97,975,350	C279*	probably null	Het
Ap3b1	T	C	13: 94,408,812	V191A	probably damaging	Het
Arhgef28	T	C	13: 97,981,376	K595E	probably benign	Het
Atp12a	A	G	14: 56,370,848	T98A	probably benign	Het
Cdcp1	A	T	9: 123,185,362	S116T	probably benign	Het
Chrm1	T	C	19: 8,679,218	F429S	possibly damaging	Het
Ckap5	C	A	2: 91,562,958	Q395K	possibly damaging	Het
Cntn4	T	A	6: 106,679,297	I853K	probably benign	Het
Cyp2g1	G	A	7: 26,809,682		probably null	Het
Disp1	A	T	1: 183,087,742	V1038D	probably damaging	Het
Dmxl2	A	T	9: 54,451,030	S462T	possibly damaging	Het
Exoc3l	A	G	8: 105,293,060		probably null	Het
Fam210a	T	C	18: 68,276,096	T48A	probably benign	Het
Fbxw5	G	A	2: 25,503,274		probably null	Het
Fkbp9	T	C	6: 56,873,449	C437R	probably damaging	Het
Gpc5	A	G	14: 115,399,279	K458R	probably benign	Het
Grik2	C	A	10: 49,244,343	G56*	probably null	Het
Igsf10	T	C	3: 59,331,285	T492A	probably damaging	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Lrrc51	T	C	7: 101,913,438	Y145C	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mapkbp1	A	T	2: 120,018,548	I682F	possibly damaging	Het
Mttp	A	T	3: 138,103,193	V718D	probably damaging	Het
Myt1l	T	A	12: 29,895,273	D1012E	unknown	Het
Nbn	G	A	4: 15,971,771	G301D	probably benign	Het
Ncstn	T	A	1: 172,066,772	S677C	possibly damaging	Het
Nod1	C	A	6: 54,944,233		probably null	Het
Nos1ap	A	G	1: 170,514,637	V52A	possibly damaging	Het
Olfr1450	T	A	19: 12,953,691	I34N	probably damaging	Het
Olfr191	T	A	16: 59,086,343	I47F	probably benign	Het
Olfr568	T	G	7: 102,877,656	Y179D	probably damaging	Het
Olfr619	T	A	7: 103,603,675	L7*	probably null	Het
Phf13	T	C	4: 151,992,505	I77V	probably benign	Het
Pias2	A	G	18: 77,120,129	K230E	probably damaging	Het
Poli	A	G	18: 70,509,464	L469P	probably damaging	Het
Prag1	A	T	8: 36,140,023	T973S	possibly damaging	Het
Prpf40b	C	A	15: 99,305,561	H101Q	probably damaging	Het
Prss50	T	C	9: 110,862,489	V287A	possibly damaging	Het
Rbm25	C	T	12: 83,668,150		probably benign	Het
Rcor2	T	C	19: 7,268,972	V4A	probably damaging	Het
Rnf180	T	C	13: 105,270,991	T17A	probably benign	Het
Robo3	A	T	9: 37,429,144	V179E	probably damaging	Het
Sacs	T	A	14: 61,209,009	S2835T	probably damaging	Het
Serpinb3c	T	A	1: 107,271,702	H363L	probably damaging	Het
Setd1a	T	C	7: 127,796,669		probably benign	Het
Skp2	A	C	15: 9,125,114	V126G	probably benign	Het
Snph	G	A	2: 151,594,478	Q108*	probably null	Het
Snrpa1	T	A	7: 66,069,498	V144E	probably damaging	Het
Tifab	T	C	13: 56,176,435	E65G	probably damaging	Het
Tmem201	A	T	4: 149,719,575	Y468N	probably damaging	Het
Tpcn1	T	C	5: 120,549,515	N388S	possibly damaging	Het
Tssk4	A	G	14: 55,650,572	Q75R	probably null	Het
Tuba4a	T	C	1: 75,215,903	N356D	probably benign	Het
Ugt2b5	T	A	5: 87,139,618	D230V	probably benign	Het
Ush2a	T	C	1: 188,916,064	V4622A	probably benign	Het
Vmn2r11	T	G	5: 109,053,858	Y260S	possibly damaging	Het
Vmn2r89	C	A	14: 51,456,236	H348N	possibly damaging	Het
Vmn2r96	A	T	17: 18,597,726	M714L	probably benign	Het
Wdr92	A	T	11: 17,227,183	E180D	probably benign	Het
Zbtb18	T	C	1: 177,447,763	S221P	probably benign	Het
Zfp418	A	G	7: 7,181,790	T251A	probably benign	Het
Zmynd15	A	G	11: 70,463,502	Y267C	probably damaging	Het

Other mutations in Dhx57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Dhx57	APN	17	80274976	missense	probably benign	0.00
IGL00811:Dhx57	APN	17	80253243	missense	probably damaging	1.00
IGL01389:Dhx57	APN	17	80281223	missense	probably benign	0.28
IGL01468:Dhx57	APN	17	80255610	nonsense	probably null
IGL01908:Dhx57	APN	17	80251443	missense	probably damaging	1.00
IGL01965:Dhx57	APN	17	80268850	missense	probably damaging	1.00
IGL02147:Dhx57	APN	17	80260323	missense	possibly damaging	0.95
IGL02275:Dhx57	APN	17	80274839	missense	probably benign	0.13
IGL02349:Dhx57	APN	17	80255571	missense	probably damaging	1.00
IGL02405:Dhx57	APN	17	80255550	critical splice donor site	probably null
IGL02588:Dhx57	APN	17	80268871	missense	probably damaging	1.00
IGL02673:Dhx57	APN	17	80267545	missense	probably damaging	1.00
IGL02836:Dhx57	APN	17	80267549	missense	probably damaging	1.00
IGL02889:Dhx57	APN	17	80247152	missense	possibly damaging	0.90
IGL03085:Dhx57	APN	17	80258097	missense	possibly damaging	0.48
P0014:Dhx57	UTSW	17	80275191	missense	probably benign	0.00
PIT4377001:Dhx57	UTSW	17	80263975	missense	probably damaging	0.96
R0100:Dhx57	UTSW	17	80275156	missense	possibly damaging	0.82
R0100:Dhx57	UTSW	17	80275156	missense	possibly damaging	0.82
R0129:Dhx57	UTSW	17	80238914	missense	probably damaging	1.00
R0200:Dhx57	UTSW	17	80251473	missense	probably damaging	1.00
R0309:Dhx57	UTSW	17	80274881	missense	probably damaging	1.00
R0375:Dhx57	UTSW	17	80258121	missense	probably damaging	1.00
R0396:Dhx57	UTSW	17	80274797	missense	probably benign	0.34
R0520:Dhx57	UTSW	17	80258175	missense	possibly damaging	0.95
R0554:Dhx57	UTSW	17	80260236	nonsense	probably null
R0661:Dhx57	UTSW	17	80268864	missense	probably damaging	1.00
R0883:Dhx57	UTSW	17	80270371	missense	probably damaging	1.00
R0900:Dhx57	UTSW	17	80275582	missense	probably benign
R0963:Dhx57	UTSW	17	80275527	missense	probably benign	0.01
R1469:Dhx57	UTSW	17	80254418	missense	probably damaging	1.00
R1469:Dhx57	UTSW	17	80254418	missense	probably damaging	1.00
R1707:Dhx57	UTSW	17	80275226	missense	probably damaging	0.96
R1822:Dhx57	UTSW	17	80253085	critical splice donor site	probably null
R1853:Dhx57	UTSW	17	80274879	nonsense	probably null
R1942:Dhx57	UTSW	17	80265144	missense	probably damaging	1.00
R2043:Dhx57	UTSW	17	80253080	splice site	probably benign
R2106:Dhx57	UTSW	17	80275363	missense	probably damaging	1.00
R2127:Dhx57	UTSW	17	80273048	missense	probably damaging	1.00
R2183:Dhx57	UTSW	17	80275331	missense	probably benign	0.07
R2249:Dhx57	UTSW	17	80281234	missense	probably damaging	0.98
R2400:Dhx57	UTSW	17	80260416	missense	probably damaging	0.99
R2404:Dhx57	UTSW	17	80254304	missense	probably damaging	0.98
R2513:Dhx57	UTSW	17	80241949	splice site	probably null
R2869:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2869:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2874:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R3819:Dhx57	UTSW	17	80265074	critical splice donor site	probably null
R3964:Dhx57	UTSW	17	80265112	nonsense	probably null
R4535:Dhx57	UTSW	17	80275082	missense	probably damaging	1.00
R4666:Dhx57	UTSW	17	80274961	missense	probably damaging	1.00
R4788:Dhx57	UTSW	17	80275331	missense	probably benign	0.01
R4822:Dhx57	UTSW	17	80242167	splice site	probably null
R4863:Dhx57	UTSW	17	80253111	missense	probably damaging	1.00
R4988:Dhx57	UTSW	17	80251398	missense	probably damaging	1.00
R5391:Dhx57	UTSW	17	80275081	missense	probably damaging	1.00
R5559:Dhx57	UTSW	17	80254379	missense	possibly damaging	0.53
R5644:Dhx57	UTSW	17	80238873	missense	possibly damaging	0.73
R5997:Dhx57	UTSW	17	80245806	missense	probably damaging	0.96
R6090:Dhx57	UTSW	17	80263946	critical splice donor site	probably null
R6177:Dhx57	UTSW	17	80272966	missense	possibly damaging	0.91
R6283:Dhx57	UTSW	17	80274805	missense	probably benign	0.00
R6802:Dhx57	UTSW	17	80275321	missense	probably benign	0.43
R6924:Dhx57	UTSW	17	80238815	missense	possibly damaging	0.71
R7151:Dhx57	UTSW	17	80273047	missense	probably damaging	1.00
R7386:Dhx57	UTSW	17	80267577	missense	possibly damaging	0.89
R7393:Dhx57	UTSW	17	80255571	missense	probably damaging	1.00
R7451:Dhx57	UTSW	17	80247113	missense	probably damaging	1.00
R7602:Dhx57	UTSW	17	80274861	missense	probably benign	0.06
R7733:Dhx57	UTSW	17	80265074	critical splice donor site	probably null
R7748:Dhx57	UTSW	17	80265117	missense	probably damaging	1.00
R7749:Dhx57	UTSW	17	80238858	missense	probably benign	0.04
R7772:Dhx57	UTSW	17	80273078	missense	possibly damaging	0.71
R8213:Dhx57	UTSW	17	80275156	missense	possibly damaging	0.82
R8370:Dhx57	UTSW	17	80245763	missense	probably damaging	1.00
R8371:Dhx57	UTSW	17	80275490	missense	probably benign	0.18
R8403:Dhx57	UTSW	17	80278289	missense	probably damaging	1.00
R8467:Dhx57	UTSW	17	80254424	missense	probably damaging	1.00
R8690:Dhx57	UTSW	17	80270365	critical splice donor site	probably benign
R9210:Dhx57	UTSW	17	80268909	missense	probably damaging	1.00
R9212:Dhx57	UTSW	17	80268909	missense	probably damaging	1.00
R9447:Dhx57	UTSW	17	80242094	missense	probably damaging	1.00
R9562:Dhx57	UTSW	17	80254388	missense	probably damaging	1.00
R9669:Dhx57	UTSW	17	80245701	missense	probably benign	0.09
R9717:Dhx57	UTSW	17	80275018	missense	probably damaging	1.00
Z1088:Dhx57	UTSW	17	80251348	missense	probably damaging	1.00
Z1176:Dhx57	UTSW	17	80245805	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCAGAATCAGCCTGTCAGTCTCTTTA -3'
(R):5'- GTTTAAGAAGCAAGTAACACAACAGCCC -3'

Sequencing Primer
(F):5'- GTCAGTCTCTTTATACAGAGTCAACC -3'
(R):5'- acctacacacacacacacac -3'

Posted On

2014-05-09