Mutagenetix > Incidental Mutation

Incidental Mutation 'R3964:Dhx57'

312280

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

DExH-box helicase 57

Synonyms

MMRRC Submission

040933-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R3964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80545733-80597620 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 80572541 bp (GRCm39)

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
Adam21	C	A	12: 81,607,583 (GRCm39)	A60S	possibly damaging	Het
Arpp21	C	G	9: 111,894,844 (GRCm39)	V805L	probably damaging	Het
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
Cdh18	A	T	15: 23,474,187 (GRCm39)	T686S	probably benign	Het
Cemip	T	A	7: 83,600,717 (GRCm39)	Y968F	probably benign	Het
Cep70	T	A	9: 99,180,587 (GRCm39)	F581I	probably damaging	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Cttnbp2nl	T	C	3: 104,913,321 (GRCm39)	K188E	probably damaging	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cux2	G	T	5: 122,025,539 (GRCm39)	S43*	probably null	Het
Ehbp1l1	C	T	19: 5,760,601 (GRCm39)		probably null	Het
Esyt3	T	A	9: 99,202,375 (GRCm39)	D512V	probably damaging	Het
Gadl1	T	C	9: 115,794,676 (GRCm39)	S284P	probably damaging	Het
Gm14137	T	A	2: 119,005,497 (GRCm39)	S19T	probably benign	Het
Gpr141b	A	G	13: 19,913,614 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gsdmc2	A	G	15: 63,721,683 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,449,320 (GRCm39)	T110A	probably benign	Het
Il23r	G	A	6: 67,443,281 (GRCm39)	T274I	probably benign	Het
Inhbb	C	A	1: 119,345,291 (GRCm39)	G333W	probably damaging	Het
Kcnb1	C	T	2: 166,946,412 (GRCm39)	C812Y	probably damaging	Het
Lrp1b	A	G	2: 41,202,482 (GRCm39)		probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Mov10l1	A	G	15: 88,896,366 (GRCm39)	I737V	probably benign	Het
Mrs2	A	G	13: 25,185,746 (GRCm39)	I142T	possibly damaging	Het
Ms4a6b	T	C	19: 11,499,098 (GRCm39)	S71P	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Muc5b	A	T	7: 141,420,705 (GRCm39)	I4191F	possibly damaging	Het
Myrf	T	C	19: 10,196,979 (GRCm39)	E267G	probably benign	Het
Nfatc2	C	T	2: 168,346,469 (GRCm39)	S875N	probably benign	Het
Nmi	T	C	2: 51,846,081 (GRCm39)	E67G	possibly damaging	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Nucb2	A	G	7: 116,128,110 (GRCm39)	E273G	probably damaging	Het
Or10g9	A	T	9: 39,911,767 (GRCm39)	V252E	possibly damaging	Het
Or1j4	A	G	2: 36,740,729 (GRCm39)	T224A	probably benign	Het
Or8b1b	T	C	9: 38,375,979 (GRCm39)	I214T	probably benign	Het
Or8b51	G	A	9: 38,569,023 (GRCm39)	L222F	probably benign	Het
Pcdhga12	A	T	18: 37,900,254 (GRCm39)	Q362L	probably benign	Het
Peak1	C	T	9: 56,167,263 (GRCm39)	E222K	probably damaging	Het
Pik3r1	T	C	13: 101,825,193 (GRCm39)	E458G	possibly damaging	Het
Pls1	T	C	9: 95,667,665 (GRCm39)	Q81R	probably benign	Het
Plxdc2	T	A	2: 16,665,651 (GRCm39)	F284I	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pole	A	G	5: 110,460,648 (GRCm39)	K1143E	probably damaging	Het
Ppfia4	A	T	1: 134,250,754 (GRCm39)	D478E	probably benign	Het
Ptprd	A	G	4: 75,978,073 (GRCm39)		probably benign	Het
Ptprj	A	G	2: 90,298,785 (GRCm39)	I315T	probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Rnf13	G	A	3: 57,676,533 (GRCm39)	G63S	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shld2	T	A	14: 33,981,644 (GRCm39)	Q498L	probably damaging	Het
Slc50a1	T	C	3: 89,176,093 (GRCm39)	I151V	probably benign	Het
Snx27	T	A	3: 94,438,613 (GRCm39)	R207S	probably damaging	Het
Sos1	C	T	17: 80,762,608 (GRCm39)	R73H	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,523 (GRCm39)	E975G	possibly damaging	Het
Tbccd1	A	G	16: 22,660,523 (GRCm39)	S98P	probably damaging	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tmx4	T	C	2: 134,441,981 (GRCm39)	I206V	possibly damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Usp19	T	A	9: 108,375,228 (GRCm39)	V818E	probably damaging	Het
Wdr38	A	G	2: 38,889,362 (GRCm39)	Y51C	probably damaging	Het
Zfp456	T	C	13: 67,514,900 (GRCm39)	T269A	probably benign	Het
Zfp628	T	C	7: 4,924,744 (GRCm39)	S989P	probably benign	Het

Other mutations in Dhx57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Dhx57	APN	17	80,582,405 (GRCm39)	missense	probably benign	0.00
IGL00811:Dhx57	APN	17	80,560,672 (GRCm39)	missense	probably damaging	1.00
IGL01389:Dhx57	APN	17	80,588,652 (GRCm39)	missense	probably benign	0.28
IGL01468:Dhx57	APN	17	80,563,039 (GRCm39)	nonsense	probably null
IGL01908:Dhx57	APN	17	80,558,872 (GRCm39)	missense	probably damaging	1.00
IGL01965:Dhx57	APN	17	80,576,279 (GRCm39)	missense	probably damaging	1.00
IGL02147:Dhx57	APN	17	80,567,752 (GRCm39)	missense	possibly damaging	0.95
IGL02275:Dhx57	APN	17	80,582,268 (GRCm39)	missense	probably benign	0.13
IGL02349:Dhx57	APN	17	80,563,000 (GRCm39)	missense	probably damaging	1.00
IGL02405:Dhx57	APN	17	80,562,979 (GRCm39)	critical splice donor site	probably null
IGL02588:Dhx57	APN	17	80,576,300 (GRCm39)	missense	probably damaging	1.00
IGL02673:Dhx57	APN	17	80,574,974 (GRCm39)	missense	probably damaging	1.00
IGL02836:Dhx57	APN	17	80,574,978 (GRCm39)	missense	probably damaging	1.00
IGL02889:Dhx57	APN	17	80,554,581 (GRCm39)	missense	possibly damaging	0.90
IGL03085:Dhx57	APN	17	80,565,526 (GRCm39)	missense	possibly damaging	0.48
P0014:Dhx57	UTSW	17	80,582,620 (GRCm39)	missense	probably benign	0.00
PIT4377001:Dhx57	UTSW	17	80,571,404 (GRCm39)	missense	probably damaging	0.96
R0100:Dhx57	UTSW	17	80,582,585 (GRCm39)	missense	possibly damaging	0.82
R0100:Dhx57	UTSW	17	80,582,585 (GRCm39)	missense	possibly damaging	0.82
R0129:Dhx57	UTSW	17	80,546,343 (GRCm39)	missense	probably damaging	1.00
R0200:Dhx57	UTSW	17	80,558,902 (GRCm39)	missense	probably damaging	1.00
R0309:Dhx57	UTSW	17	80,582,310 (GRCm39)	missense	probably damaging	1.00
R0375:Dhx57	UTSW	17	80,565,550 (GRCm39)	missense	probably damaging	1.00
R0396:Dhx57	UTSW	17	80,582,226 (GRCm39)	missense	probably benign	0.34
R0520:Dhx57	UTSW	17	80,565,604 (GRCm39)	missense	possibly damaging	0.95
R0554:Dhx57	UTSW	17	80,567,665 (GRCm39)	nonsense	probably null
R0661:Dhx57	UTSW	17	80,576,293 (GRCm39)	missense	probably damaging	1.00
R0883:Dhx57	UTSW	17	80,577,800 (GRCm39)	missense	probably damaging	1.00
R0900:Dhx57	UTSW	17	80,583,011 (GRCm39)	missense	probably benign
R0963:Dhx57	UTSW	17	80,582,956 (GRCm39)	missense	probably benign	0.01
R1469:Dhx57	UTSW	17	80,561,847 (GRCm39)	missense	probably damaging	1.00
R1469:Dhx57	UTSW	17	80,561,847 (GRCm39)	missense	probably damaging	1.00
R1660:Dhx57	UTSW	17	80,553,157 (GRCm39)	missense	possibly damaging	0.83
R1707:Dhx57	UTSW	17	80,582,655 (GRCm39)	missense	probably damaging	0.96
R1822:Dhx57	UTSW	17	80,560,514 (GRCm39)	critical splice donor site	probably null
R1853:Dhx57	UTSW	17	80,582,308 (GRCm39)	nonsense	probably null
R1942:Dhx57	UTSW	17	80,572,573 (GRCm39)	missense	probably damaging	1.00
R2043:Dhx57	UTSW	17	80,560,509 (GRCm39)	splice site	probably benign
R2106:Dhx57	UTSW	17	80,582,792 (GRCm39)	missense	probably damaging	1.00
R2127:Dhx57	UTSW	17	80,580,477 (GRCm39)	missense	probably damaging	1.00
R2183:Dhx57	UTSW	17	80,582,760 (GRCm39)	missense	probably benign	0.07
R2249:Dhx57	UTSW	17	80,588,663 (GRCm39)	missense	probably damaging	0.98
R2400:Dhx57	UTSW	17	80,567,845 (GRCm39)	missense	probably damaging	0.99
R2404:Dhx57	UTSW	17	80,561,733 (GRCm39)	missense	probably damaging	0.98
R2513:Dhx57	UTSW	17	80,549,378 (GRCm39)	splice site	probably null
R2869:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2869:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2874:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R3819:Dhx57	UTSW	17	80,572,503 (GRCm39)	critical splice donor site	probably null
R4535:Dhx57	UTSW	17	80,582,511 (GRCm39)	missense	probably damaging	1.00
R4666:Dhx57	UTSW	17	80,582,390 (GRCm39)	missense	probably damaging	1.00
R4788:Dhx57	UTSW	17	80,582,760 (GRCm39)	missense	probably benign	0.01
R4822:Dhx57	UTSW	17	80,549,596 (GRCm39)	splice site	probably null
R4863:Dhx57	UTSW	17	80,560,540 (GRCm39)	missense	probably damaging	1.00
R4988:Dhx57	UTSW	17	80,558,827 (GRCm39)	missense	probably damaging	1.00
R5391:Dhx57	UTSW	17	80,582,510 (GRCm39)	missense	probably damaging	1.00
R5559:Dhx57	UTSW	17	80,561,808 (GRCm39)	missense	possibly damaging	0.53
R5644:Dhx57	UTSW	17	80,546,302 (GRCm39)	missense	possibly damaging	0.73
R5997:Dhx57	UTSW	17	80,553,235 (GRCm39)	missense	probably damaging	0.96
R6090:Dhx57	UTSW	17	80,571,375 (GRCm39)	critical splice donor site	probably null
R6177:Dhx57	UTSW	17	80,580,395 (GRCm39)	missense	possibly damaging	0.91
R6283:Dhx57	UTSW	17	80,582,234 (GRCm39)	missense	probably benign	0.00
R6802:Dhx57	UTSW	17	80,582,750 (GRCm39)	missense	probably benign	0.43
R6924:Dhx57	UTSW	17	80,546,244 (GRCm39)	missense	possibly damaging	0.71
R7151:Dhx57	UTSW	17	80,580,476 (GRCm39)	missense	probably damaging	1.00
R7386:Dhx57	UTSW	17	80,575,006 (GRCm39)	missense	possibly damaging	0.89
R7393:Dhx57	UTSW	17	80,563,000 (GRCm39)	missense	probably damaging	1.00
R7451:Dhx57	UTSW	17	80,554,542 (GRCm39)	missense	probably damaging	1.00
R7602:Dhx57	UTSW	17	80,582,290 (GRCm39)	missense	probably benign	0.06
R7733:Dhx57	UTSW	17	80,572,503 (GRCm39)	critical splice donor site	probably null
R7748:Dhx57	UTSW	17	80,572,546 (GRCm39)	missense	probably damaging	1.00
R7749:Dhx57	UTSW	17	80,546,287 (GRCm39)	missense	probably benign	0.04
R7772:Dhx57	UTSW	17	80,580,507 (GRCm39)	missense	possibly damaging	0.71
R8213:Dhx57	UTSW	17	80,582,585 (GRCm39)	missense	possibly damaging	0.82
R8370:Dhx57	UTSW	17	80,553,192 (GRCm39)	missense	probably damaging	1.00
R8371:Dhx57	UTSW	17	80,582,919 (GRCm39)	missense	probably benign	0.18
R8403:Dhx57	UTSW	17	80,585,718 (GRCm39)	missense	probably damaging	1.00
R8467:Dhx57	UTSW	17	80,561,853 (GRCm39)	missense	probably damaging	1.00
R8690:Dhx57	UTSW	17	80,577,794 (GRCm39)	critical splice donor site	probably benign
R9210:Dhx57	UTSW	17	80,576,338 (GRCm39)	missense	probably damaging	1.00
R9212:Dhx57	UTSW	17	80,576,338 (GRCm39)	missense	probably damaging	1.00
R9447:Dhx57	UTSW	17	80,549,523 (GRCm39)	missense	probably damaging	1.00
R9562:Dhx57	UTSW	17	80,561,817 (GRCm39)	missense	probably damaging	1.00
R9669:Dhx57	UTSW	17	80,553,130 (GRCm39)	missense	probably benign	0.09
R9717:Dhx57	UTSW	17	80,582,447 (GRCm39)	missense	probably damaging	1.00
Z1088:Dhx57	UTSW	17	80,558,777 (GRCm39)	missense	probably damaging	1.00
Z1176:Dhx57	UTSW	17	80,553,234 (GRCm39)	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