Mutagenetix > Incidental Mutation

Incidental Mutation 'R2106:Dhx57'

231015

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

040110-MU

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R2106 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80275363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 271 (V271A)

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

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

AlphaFold

Q6P5D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038166
AA Change: V218A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: V218A

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

probably damaging
Transcript: ENSMUST00000086555
AA Change: V271A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: V271A

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: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	T	C	2: 27,102,825	F650S	probably benign	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akr1c13	T	A	13: 4,198,594	V266E	probably damaging	Het
Ankrd61	A	T	5: 143,891,746	L95Q	probably damaging	Het
Atp11a	A	G	8: 12,835,228	T22A	probably benign	Het
Brca1	A	G	11: 101,524,977	V777A	possibly damaging	Het
Ccdc40	G	T	11: 119,264,297	R1121L	probably damaging	Het
Cdhr4	A	C	9: 107,997,494	S588R	possibly damaging	Het
Cfap69	T	C	5: 5,595,979	N517D	probably benign	Het
Chrm2	T	C	6: 36,523,447	Y80H	probably damaging	Het
Csgalnact2	G	T	6: 118,109,129	Y534*	probably null	Het
Defb35	A	G	8: 21,940,793	E61G	unknown	Het
Dhx15	A	T	5: 52,170,086	D95E	probably benign	Het
Dlg1	T	C	16: 31,812,756	S444P	probably damaging	Het
Edem1	T	A	6: 108,848,725	N406K	probably damaging	Het
Eif4g3	A	T	4: 138,082,919		probably benign	Het
Epb41	A	G	4: 131,989,841	I56T	probably damaging	Het
Epg5	T	A	18: 77,991,363	Y1442*	probably null	Het
Fam166a	A	G	2: 25,220,651	Y157C	probably damaging	Het
Fat2	T	C	11: 55,256,564	T3951A	probably benign	Het
Fryl	A	G	5: 73,098,331	S786P	probably damaging	Het
Fyb2	A	G	4: 104,945,572	T224A	probably benign	Het
Ginm1	A	T	10: 7,775,326	F105L	probably damaging	Het
Heatr1	T	C	13: 12,412,058	V688A	probably benign	Het
Hnmt	T	G	2: 24,019,118	Q94H	probably benign	Het
Ice1	A	G	13: 70,605,622	Y782H	probably benign	Het
Immt	T	C	6: 71,871,515	V418A	possibly damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kif1b	G	A	4: 149,187,640	S1568L	possibly damaging	Het
Krt84	T	C	15: 101,530,866	N248D	probably damaging	Het
Lig1	C	A	7: 13,305,938	R692S	probably damaging	Het
Lvrn	G	T	18: 46,878,289	A438S	probably damaging	Het
Mast4	C	T	13: 102,750,546	V1204I	probably damaging	Het
Med21	G	T	6: 146,649,212	D74Y	probably damaging	Het
Nat8	T	C	6: 85,830,524	D209G	probably benign	Het
Nipal1	C	A	5: 72,663,559	F132L	probably damaging	Het
Npr2	A	T	4: 43,644,329	I613F	probably damaging	Het
Nrcam	A	G	12: 44,570,290	T706A	probably benign	Het
Olfr1132	T	C	2: 87,635,159	E196G	probably benign	Het
Olfr1133	A	G	2: 87,645,551	S191P	probably damaging	Het
Pam	A	G	1: 97,831,490	V823A	probably damaging	Het
Pdik1l	A	T	4: 134,284,254	Y93N	probably damaging	Het
Perm1	T	C	4: 156,218,879	W627R	probably damaging	Het
Pofut1	G	A	2: 153,259,793		probably null	Het
Prmt5	T	C	14: 54,507,917	I598V	probably benign	Het
Rab11fip5	T	C	6: 85,374,387	I48V	probably damaging	Het
Rad51d	T	A	11: 82,879,308	K261N	probably damaging	Het
Rapgef6	T	G	11: 54,668,686	I1050S	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ryr3	T	C	2: 112,638,129	E4688G	probably damaging	Het
Siva1	G	T	12: 112,647,006	R96L	probably damaging	Het
Slc13a4	T	C	6: 35,287,864	N140S	probably damaging	Het
Slc26a5	T	A	5: 21,823,544	D342V	probably damaging	Het
Slfn9	A	G	11: 82,987,680	S208P	possibly damaging	Het
Sspo	C	A	6: 48,466,316	T1899N	possibly damaging	Het
Sytl1	T	C	4: 133,257,463	D200G	probably benign	Het
Tas2r118	T	C	6: 23,969,570	N164S	probably benign	Het
Tbc1d17	A	G	7: 44,848,268		probably null	Het
Tex14	T	C	11: 87,486,250	M140T	possibly damaging	Het
Tm6sf2	T	C	8: 70,079,746	F352S	probably benign	Het
Tmem88	A	G	11: 69,397,859	L78P	probably benign	Het
Trafd1	A	G	5: 121,373,211	S515P	probably benign	Het
Trpm6	A	T	19: 18,813,350	E583V	possibly damaging	Het
Ttc23l	A	G	15: 10,547,256	C91R	probably damaging	Het
Ubap1l	T	C	9: 65,373,807	S256P	probably benign	Het
Vmn1r26	T	G	6: 58,008,725	S160R	possibly damaging	Het
Vmn2r97	A	G	17: 18,947,838	S785G	probably damaging	Het
Wdr27	T	G	17: 14,920,854	R278S	probably benign	Het
Wdr7	T	C	18: 63,778,038	S834P	probably damaging	Het
Zdhhc12	C	T	2: 30,091,802	C116Y	probably damaging	Het
Zfp946	T	C	17: 22,453,485	F22L	probably benign	Het
Zfp948	G	T	17: 21,587,691	E382*	probably null	Het
Zfp956	T	A	6: 47,964,425	*573K	probably null	Het
Zim1	T	G	7: 6,678,074	T197P	probably benign	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
R1660:Dhx57	UTSW	17	80245728	missense	possibly damaging	0.83
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
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'- GTGTCGTCATCAGCGTCAAG -3'
(R):5'- TAGAGCATCTTCTCCGCCAG -3'

Sequencing Primer
(F):5'- CCAATCATTTGATGTGGGGGCAC -3'
(R):5'- CGCCAGTGTTTCTCAGAGAC -3'

Posted On

2014-09-18