Mutagenetix > Incidental Mutation

Incidental Mutation 'R3964:Dhx57'

312280

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

040933-MU

Accession Numbers

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

Essential gene?

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

Stock #

R3964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 80265112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 711 (K711*)

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

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

AlphaFold

Q6P5D3

Predicted Effect

probably null
Transcript: ENSMUST00000038166
AA Change: K658*

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: K658*

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 null
Transcript: ENSMUST00000086555
AA Change: K711*

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: K711*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530099J19Rik	A	G	13: 19,729,444		noncoding transcript	Het
Adam21	C	A	12: 81,560,809	A60S	possibly damaging	Het
Arpp21	C	G	9: 112,065,776	V805L	probably damaging	Het
C1galt1c1	A	T	X: 38,631,576	V181E	probably benign	Het
Cdh18	A	T	15: 23,474,101	T686S	probably benign	Het
Cemip	T	A	7: 83,951,509	Y968F	probably benign	Het
Cep70	T	A	9: 99,298,534	F581I	probably damaging	Het
Ctc1	T	A	11: 69,031,128	V800D	probably damaging	Het
Cttnbp2nl	T	C	3: 105,006,005	K188E	probably damaging	Het
Cux1	A	G	5: 136,282,942	V1180A	probably damaging	Het
Cux2	G	T	5: 121,887,476	S43*	probably null	Het
Ehbp1l1	C	T	19: 5,710,573		probably null	Het
Esyt3	T	A	9: 99,320,322	D512V	probably damaging	Het
Fam35a	T	A	14: 34,259,687	Q498L	probably damaging	Het
Gadl1	T	C	9: 115,965,608	S284P	probably damaging	Het
Gm12169	T	A	11: 46,535,513	V149D	possibly damaging	Het
Gm14137	T	A	2: 119,175,016	S19T	probably benign	Het
Gprc6a	CAAA	CA	10: 51,615,680		probably null	Het
Gsdmc2	A	G	15: 63,849,834		probably benign	Het
Hmcn1	T	C	1: 150,573,569	T110A	probably benign	Het
Il23r	G	A	6: 67,466,297	T274I	probably benign	Het
Inhbb	C	A	1: 119,417,561	G333W	probably damaging	Het
Kcnb1	C	T	2: 167,104,492	C812Y	probably damaging	Het
Lrp1b	A	G	2: 41,312,470		probably benign	Het
Med31	C	T	11: 72,211,929	A118T	probably benign	Het
Mov10l1	A	G	15: 89,012,163	I737V	probably benign	Het
Mrs2	A	G	13: 25,001,763	I142T	possibly damaging	Het
Ms4a6b	T	C	19: 11,521,734	S71P	probably benign	Het
Muc2	G	A	7: 141,699,664	R120H	probably benign	Het
Muc5b	A	T	7: 141,866,968	I4191F	possibly damaging	Het
Myrf	T	C	19: 10,219,615	E267G	probably benign	Het
Nfatc2	C	T	2: 168,504,549	S875N	probably benign	Het
Nmi	T	C	2: 51,956,069	E67G	possibly damaging	Het
Nrap	T	C	19: 56,342,144	S1126G	probably damaging	Het
Nucb2	A	G	7: 116,528,875	E273G	probably damaging	Het
Olfr350	A	G	2: 36,850,717	T224A	probably benign	Het
Olfr904	T	C	9: 38,464,683	I214T	probably benign	Het
Olfr916	G	A	9: 38,657,727	L222F	probably benign	Het
Olfr979	A	T	9: 40,000,471	V252E	possibly damaging	Het
Pcdhga12	A	T	18: 37,767,201	Q362L	probably benign	Het
Peak1	C	T	9: 56,259,979	E222K	probably damaging	Het
Pik3r1	T	C	13: 101,688,685	E458G	possibly damaging	Het
Pls1	T	C	9: 95,785,612	Q81R	probably benign	Het
Plxdc2	T	A	2: 16,660,840	F284I	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pole	A	G	5: 110,312,782	K1143E	probably damaging	Het
Ppfia4	A	T	1: 134,323,016	D478E	probably benign	Het
Ptprd	A	G	4: 76,059,836		probably benign	Het
Ptprj	A	G	2: 90,468,441	I315T	probably benign	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Rnf13	G	A	3: 57,769,112	G63S	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Slc50a1	T	C	3: 89,268,786	I151V	probably benign	Het
Snx27	T	A	3: 94,531,306	R207S	probably damaging	Het
Sos1	C	T	17: 80,455,179	R73H	probably damaging	Het
Tbc1d9b	A	G	11: 50,168,696	E975G	possibly damaging	Het
Tbccd1	A	G	16: 22,841,773	S98P	probably damaging	Het
Tmx4	T	C	2: 134,600,061	I206V	possibly damaging	Het
Upf1	C	T	8: 70,338,460	R544H	probably damaging	Het
Usp19	T	A	9: 108,498,029	V818E	probably damaging	Het
Wdr38	A	G	2: 38,999,350	Y51C	probably damaging	Het
Zfp456	T	C	13: 67,366,781	T269A	probably benign	Het
Zfp628	T	C	7: 4,921,745	S989P	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
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
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'- CATCAGCTGCTTTACATTGGG -3'
(R):5'- ACTGTTCTCAAGTGGCACATC -3'

Sequencing Primer
(F):5'- ATCAGCTGCTTTACATTGGGTTGTTC -3'
(R):5'- CAAGTGGCACATCTAAGTTTTACAC -3'

Posted On

2015-04-29