Mutagenetix > Incidental Mutation

Incidental Mutation 'R1660:Dhx57'

186701

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

DExH-box helicase 57

Synonyms

MMRRC Submission

039696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R1660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80545733-80597620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80553157 bp (GRCm39)

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: 31,870,507 (GRCm39)	S3*	probably null	Het
Adgrv1	C	T	13: 81,624,750 (GRCm39)	V3740I	probably benign	Het
Aida	T	C	1: 183,079,127 (GRCm39)	F22S	probably damaging	Het
Ankrd65	A	T	4: 155,876,528 (GRCm39)	D220V	probably damaging	Het
Antxr2	A	T	5: 98,123,209 (GRCm39)	C279*	probably null	Het
Ap3b1	T	C	13: 94,545,320 (GRCm39)	V191A	probably damaging	Het
Arhgef28	T	C	13: 98,117,884 (GRCm39)	K595E	probably benign	Het
Atp12a	A	G	14: 56,608,305 (GRCm39)	T98A	probably benign	Het
Cdcp1	A	T	9: 123,014,427 (GRCm39)	S116T	probably benign	Het
Chrm1	T	C	19: 8,656,582 (GRCm39)	F429S	possibly damaging	Het
Ckap5	C	A	2: 91,393,303 (GRCm39)	Q395K	possibly damaging	Het
Cntn4	T	A	6: 106,656,258 (GRCm39)	I853K	probably benign	Het
Cyp2g1	G	A	7: 26,509,107 (GRCm39)		probably null	Het
Disp1	A	T	1: 182,869,306 (GRCm39)	V1038D	probably damaging	Het
Dmxl2	A	T	9: 54,358,314 (GRCm39)	S462T	possibly damaging	Het
Dnaaf10	A	T	11: 17,177,183 (GRCm39)	E180D	probably benign	Het
Exoc3l	A	G	8: 106,019,692 (GRCm39)		probably null	Het
Fam210a	T	C	18: 68,409,167 (GRCm39)	T48A	probably benign	Het
Fbxw5	G	A	2: 25,393,286 (GRCm39)		probably null	Het
Fkbp9	T	C	6: 56,850,434 (GRCm39)	C437R	probably damaging	Het
Gpc5	A	G	14: 115,636,691 (GRCm39)	K458R	probably benign	Het
Grik2	C	A	10: 49,120,439 (GRCm39)	G56*	probably null	Het
Igsf10	T	C	3: 59,238,706 (GRCm39)	T492A	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Lrrc51	T	C	7: 101,562,645 (GRCm39)	Y145C	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mapkbp1	A	T	2: 119,849,029 (GRCm39)	I682F	possibly damaging	Het
Mttp	A	T	3: 137,808,954 (GRCm39)	V718D	probably damaging	Het
Myt1l	T	A	12: 29,945,272 (GRCm39)	D1012E	unknown	Het
Nbn	G	A	4: 15,971,771 (GRCm39)	G301D	probably benign	Het
Ncstn	T	A	1: 171,894,339 (GRCm39)	S677C	possibly damaging	Het
Nod1	C	A	6: 54,921,218 (GRCm39)		probably null	Het
Nos1ap	A	G	1: 170,342,206 (GRCm39)	V52A	possibly damaging	Het
Or51f2	T	G	7: 102,526,863 (GRCm39)	Y179D	probably damaging	Het
Or52z14	T	A	7: 103,252,882 (GRCm39)	L7*	probably null	Het
Or5b98	T	A	19: 12,931,055 (GRCm39)	I34N	probably damaging	Het
Or5h23	T	A	16: 58,906,706 (GRCm39)	I47F	probably benign	Het
Phf13	T	C	4: 152,076,962 (GRCm39)	I77V	probably benign	Het
Pias2	A	G	18: 77,207,825 (GRCm39)	K230E	probably damaging	Het
Poli	A	G	18: 70,642,535 (GRCm39)	L469P	probably damaging	Het
Prag1	A	T	8: 36,607,177 (GRCm39)	T973S	possibly damaging	Het
Prpf40b	C	A	15: 99,203,442 (GRCm39)	H101Q	probably damaging	Het
Prss50	T	C	9: 110,691,557 (GRCm39)	V287A	possibly damaging	Het
Rbm25	C	T	12: 83,714,924 (GRCm39)		probably benign	Het
Rcor2	T	C	19: 7,246,337 (GRCm39)	V4A	probably damaging	Het
Rnf180	T	C	13: 105,407,499 (GRCm39)	T17A	probably benign	Het
Robo3	A	T	9: 37,340,440 (GRCm39)	V179E	probably damaging	Het
Sacs	T	A	14: 61,446,458 (GRCm39)	S2835T	probably damaging	Het
Serpinb3c	T	A	1: 107,199,432 (GRCm39)	H363L	probably damaging	Het
Setd1a	T	C	7: 127,395,841 (GRCm39)		probably benign	Het
Skp2	A	C	15: 9,125,201 (GRCm39)	V126G	probably benign	Het
Snph	G	A	2: 151,436,398 (GRCm39)	Q108*	probably null	Het
Snrpa1	T	A	7: 65,719,246 (GRCm39)	V144E	probably damaging	Het
Tifab	T	C	13: 56,324,248 (GRCm39)	E65G	probably damaging	Het
Tmem201	A	T	4: 149,804,032 (GRCm39)	Y468N	probably damaging	Het
Tpcn1	T	C	5: 120,687,580 (GRCm39)	N388S	possibly damaging	Het
Tssk4	A	G	14: 55,888,029 (GRCm39)	Q75R	probably null	Het
Tuba4a	T	C	1: 75,192,547 (GRCm39)	N356D	probably benign	Het
Ugt2b5	T	A	5: 87,287,477 (GRCm39)	D230V	probably benign	Het
Ush2a	T	C	1: 188,648,261 (GRCm39)	V4622A	probably benign	Het
Vmn2r11	T	G	5: 109,201,724 (GRCm39)	Y260S	possibly damaging	Het
Vmn2r89	C	A	14: 51,693,693 (GRCm39)	H348N	possibly damaging	Het
Vmn2r96	A	T	17: 18,817,988 (GRCm39)	M714L	probably benign	Het
Zbtb18	T	C	1: 177,275,329 (GRCm39)	S221P	probably benign	Het
Zfp418	A	G	7: 7,184,789 (GRCm39)	T251A	probably benign	Het
Zmynd15	A	G	11: 70,354,328 (GRCm39)	Y267C	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
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
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'- TCCAGAATCAGCCTGTCAGTCTCTTTA -3'
(R):5'- GTTTAAGAAGCAAGTAACACAACAGCCC -3'

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

Posted On

2014-05-09