Mutagenetix > Incidental Mutation

Incidental Mutation 'R6177:Dhx57'

487849

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

DExH-box helicase 57

Synonyms

MMRRC Submission

044319-MU

Accession Numbers

Essential gene?

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

Stock #

R6177 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80545733-80597620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80580395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 519 (N519S)

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

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

AlphaFold

Q6P5D3

Predicted Effect

probably benign
Transcript: ENSMUST00000038166
AA Change: N466S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: N466S

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: N519S

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: N519S

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

0.0971

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (65/65)

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
Abcd2	T	C	15: 91,074,896 (GRCm39)	I306V	probably damaging	Het
Actrt3	A	T	3: 30,652,316 (GRCm39)	Y259*	probably null	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Ano1	T	A	7: 144,232,478 (GRCm39)	M25L	possibly damaging	Het
Apol10b	A	T	15: 77,469,987 (GRCm39)	D63E	possibly damaging	Het
Atp6v1c1	C	A	15: 38,674,172 (GRCm39)	S55*	probably null	Het
C1s2	T	G	6: 124,606,960 (GRCm39)	D296A	probably damaging	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Cadm4	G	A	7: 24,202,186 (GRCm39)	V342M	possibly damaging	Het
Cat	T	C	2: 103,303,420 (GRCm39)	E119G	probably damaging	Het
Cavin2	G	T	1: 51,328,654 (GRCm39)	S37I	probably damaging	Het
Cdhr18	T	C	14: 13,868,002 (GRCm38)	D229G	probably benign	Het
Cdk5rap2	G	A	4: 70,199,719 (GRCm39)	R802C	probably damaging	Het
Clip1	A	G	5: 123,751,897 (GRCm39)		probably benign	Het
Dpep2	T	C	8: 106,712,831 (GRCm39)	D260G	probably damaging	Het
Edem1	T	A	6: 108,828,159 (GRCm39)		probably null	Het
Epb41l4a	A	T	18: 33,931,868 (GRCm39)		probably null	Het
Esp1	T	C	17: 41,039,723 (GRCm39)	S3P	possibly damaging	Het
Fam111a	A	G	19: 12,564,746 (GRCm39)	Y165C	probably damaging	Het
Fstl4	A	G	11: 53,059,031 (GRCm39)	T497A	probably benign	Het
Gstcd	T	C	3: 132,787,834 (GRCm39)	D288G	probably damaging	Het
Hmcn2	T	A	2: 31,310,118 (GRCm39)	L3264*	probably null	Het
Hyal4	T	A	6: 24,766,089 (GRCm39)	L481*	probably null	Het
Ighv2-7	A	G	12: 113,771,055 (GRCm39)	Y77H	possibly damaging	Het
Jdp2	G	T	12: 85,685,614 (GRCm39)	R125L	probably benign	Het
Lrp1b	A	T	2: 41,013,748 (GRCm39)		probably null	Het
Lrp2	AC	A	2: 69,340,763 (GRCm39)		probably null	Het
Marveld2	C	T	13: 100,733,886 (GRCm39)	D250N	probably damaging	Het
Mast3	A	G	8: 71,242,662 (GRCm39)	S53P	probably damaging	Het
Ms4a20	A	G	19: 11,083,114 (GRCm39)	I102T	possibly damaging	Het
Myo3b	T	C	2: 70,143,707 (GRCm39)	V1041A	probably benign	Het
Nkpd1	T	A	7: 19,257,009 (GRCm39)	F113I	probably damaging	Het
Obscn	A	G	11: 58,923,490 (GRCm39)	S6470P	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a73	T	C	2: 89,420,661 (GRCm39)	D266G	possibly damaging	Het
Or9g4b	C	T	2: 85,616,004 (GRCm39)	R50C	probably damaging	Het
Pdcd11	G	T	19: 47,108,722 (GRCm39)	G1246V	probably damaging	Het
Phc3	A	T	3: 30,996,714 (GRCm39)	S219T	probably damaging	Het
Plxnb1	C	T	9: 108,931,993 (GRCm39)		probably null	Het
Polh	T	C	17: 46,495,670 (GRCm39)	D276G	possibly damaging	Het
Polq	T	A	16: 36,892,071 (GRCm39)	V1991E	probably damaging	Het
Polr2g	G	A	19: 8,771,541 (GRCm39)	R144C	probably damaging	Het
Pramel16	G	A	4: 143,675,576 (GRCm39)	H417Y	possibly damaging	Het
Prex2	A	C	1: 11,207,001 (GRCm39)	T520P	possibly damaging	Het
Psg21	T	A	7: 18,386,279 (GRCm39)	T236S	possibly damaging	Het
Ptpru	A	T	4: 131,520,836 (GRCm39)	S761R	probably benign	Het
Rapgef6	G	A	11: 54,510,842 (GRCm39)	R253Q	probably damaging	Het
Rc3h2	C	T	2: 37,279,658 (GRCm39)	V524I	probably benign	Het
Sde2	T	C	1: 180,685,784 (GRCm39)	V112A	probably damaging	Het
Septin7	T	C	9: 25,205,100 (GRCm39)		probably null	Het
Spef2	A	G	15: 9,727,618 (GRCm39)	V155A	possibly damaging	Het
St7	T	C	6: 17,819,333 (GRCm39)		probably null	Het
Tmcc3	A	T	10: 94,418,249 (GRCm39)	Y339F	probably damaging	Het
Tmed6	T	C	8: 107,792,083 (GRCm39)	E54G	probably damaging	Het
Tnks1bp1	C	T	2: 84,889,624 (GRCm39)		probably benign	Het
Trim43c	T	C	9: 88,722,600 (GRCm39)	L82P	possibly damaging	Het
Txndc2	T	C	17: 65,945,466 (GRCm39)	D237G	probably benign	Het
Vmn1r91	T	A	7: 19,835,404 (GRCm39)	C108S	possibly damaging	Het
Vtn	A	T	11: 78,390,836 (GRCm39)	D165V	probably damaging	Het
Wdr3	A	T	3: 100,068,468 (GRCm39)	S13R	probably damaging	Het
Zdhhc16	A	G	19: 41,926,198 (GRCm39)	Y31C	probably benign	Het
Zfp39	A	T	11: 58,781,887 (GRCm39)	W292R	probably benign	Het
Zfp612	A	T	8: 110,816,606 (GRCm39)	L604F	probably damaging	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
R3964:Dhx57	UTSW	17	80,572,541 (GRCm39)	nonsense	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
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'- CCCATACCTGTGTCTAGAGAGC -3'
(R):5'- AGGGCAAATTGAAGCTGTTTCC -3'

Sequencing Primer
(F):5'- ACCTGTGTCTAGAGAGCAAGATCTTG -3'
(R):5'- GCAAATTGAAGCTGTTTCCTTTCG -3'

Posted On

2017-10-10