Mutagenetix > Incidental Mutation

Incidental Mutation 'R6177:Dhx57'

487849

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

044319-MU

Accession Numbers

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

Essential gene?

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

Stock #

R6177 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80272966 bp (GRCm38)

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
1700017D01Rik	A	G	19: 11,105,750 (GRCm38)	I102T	possibly damaging	Het
Abcd2	T	C	15: 91,190,693 (GRCm38)	I306V	probably damaging	Het
Actrt3	A	T	3: 30,598,167 (GRCm38)	Y259*	probably null	Het
Ankfy1	G	A	11: 72,754,459 (GRCm38)	C788Y	probably benign	Het
Ano1	T	A	7: 144,678,741 (GRCm38)	M25L	possibly damaging	Het
Apol10b	A	T	15: 77,585,787 (GRCm38)	D63E	possibly damaging	Het
Atp6v1c1	C	A	15: 38,673,928 (GRCm38)	S55*	probably null	Het
C1s2	T	G	6: 124,630,001 (GRCm38)	D296A	probably damaging	Het
Cabs1	C	T	5: 87,979,754 (GRCm38)	T88I	possibly damaging	Het
Cadm4	G	A	7: 24,502,761 (GRCm38)	V342M	possibly damaging	Het
Cat	T	C	2: 103,473,075 (GRCm38)	E119G	probably damaging	Het
Cavin2	G	T	1: 51,289,495 (GRCm38)	S37I	probably damaging	Het
Cdk5rap2	G	A	4: 70,281,482 (GRCm38)	R802C	probably damaging	Het
Clip1	A	G	5: 123,613,834 (GRCm38)		probably benign	Het
Dpep2	T	C	8: 105,986,199 (GRCm38)	D260G	probably damaging	Het
Edem1	T	A	6: 108,851,198 (GRCm38)		probably null	Het
Epb41l4a	A	T	18: 33,798,815 (GRCm38)		probably null	Het
Esp1	T	C	17: 40,728,832 (GRCm38)	S3P	possibly damaging	Het
Fam111a	A	G	19: 12,587,382 (GRCm38)	Y165C	probably damaging	Het
Fstl4	A	G	11: 53,168,204 (GRCm38)	T497A	probably benign	Het
Gm281	T	C	14: 13,868,002 (GRCm38)	D229G	probably benign	Het
Gstcd	T	C	3: 133,082,073 (GRCm38)	D288G	probably damaging	Het
Hmcn2	T	A	2: 31,420,106 (GRCm38)	L3264*	probably null	Het
Hyal4	T	A	6: 24,766,090 (GRCm38)	L481*	probably null	Het
Ighv2-7	A	G	12: 113,807,435 (GRCm38)	Y77H	possibly damaging	Het
Jdp2	G	T	12: 85,638,840 (GRCm38)	R125L	probably benign	Het
Lrp1b	A	T	2: 41,123,736 (GRCm38)		probably null	Het
Lrp2	AC	A	2: 69,510,419 (GRCm38)		probably null	Het
Marveld2	C	T	13: 100,597,378 (GRCm38)	D250N	probably damaging	Het
Mast3	A	G	8: 70,790,018 (GRCm38)	S53P	probably damaging	Het
Myo3b	T	C	2: 70,313,363 (GRCm38)	V1041A	probably benign	Het
Nkpd1	T	A	7: 19,523,084 (GRCm38)	F113I	probably damaging	Het
Obscn	A	G	11: 59,032,664 (GRCm38)	S6470P	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654 (GRCm38)		probably null	Het
Olfr1015	C	T	2: 85,785,660 (GRCm38)	R50C	probably damaging	Het
Olfr1246	T	C	2: 89,590,317 (GRCm38)	D266G	possibly damaging	Het
Pdcd11	G	T	19: 47,120,283 (GRCm38)	G1246V	probably damaging	Het
Phc3	A	T	3: 30,942,565 (GRCm38)	S219T	probably damaging	Het
Plxnb1	C	T	9: 109,102,925 (GRCm38)		probably null	Het
Polh	T	C	17: 46,184,744 (GRCm38)	D276G	possibly damaging	Het
Polq	T	A	16: 37,071,709 (GRCm38)	V1991E	probably damaging	Het
Polr2g	G	A	19: 8,794,177 (GRCm38)	R144C	probably damaging	Het
Pramef25	G	A	4: 143,949,006 (GRCm38)	H417Y	possibly damaging	Het
Prex2	A	C	1: 11,136,777 (GRCm38)	T520P	possibly damaging	Het
Psg21	T	A	7: 18,652,354 (GRCm38)	T236S	possibly damaging	Het
Ptpru	A	T	4: 131,793,525 (GRCm38)	S761R	probably benign	Het
Rapgef6	G	A	11: 54,620,016 (GRCm38)	R253Q	probably damaging	Het
Rc3h2	C	T	2: 37,389,646 (GRCm38)	V524I	probably benign	Het
Sde2	T	C	1: 180,858,219 (GRCm38)	V112A	probably damaging	Het
Sept7	T	C	9: 25,293,804 (GRCm38)		probably null	Het
Spef2	A	G	15: 9,727,532 (GRCm38)	V155A	possibly damaging	Het
St7	T	C	6: 17,819,334 (GRCm38)		probably null	Het
Tmcc3	A	T	10: 94,582,387 (GRCm38)	Y339F	probably damaging	Het
Tmed6	T	C	8: 107,065,451 (GRCm38)	E54G	probably damaging	Het
Tnks1bp1	C	T	2: 85,059,280 (GRCm38)		probably benign	Het
Trim43c	T	C	9: 88,840,547 (GRCm38)	L82P	possibly damaging	Het
Txndc2	T	C	17: 65,638,471 (GRCm38)	D237G	probably benign	Het
Vmn1r91	T	A	7: 20,101,479 (GRCm38)	C108S	possibly damaging	Het
Vtn	A	T	11: 78,500,010 (GRCm38)	D165V	probably damaging	Het
Wdr3	A	T	3: 100,161,152 (GRCm38)	S13R	probably damaging	Het
Zdhhc16	A	G	19: 41,937,759 (GRCm38)	Y31C	probably benign	Het
Zfp39	A	T	11: 58,891,061 (GRCm38)	W292R	probably benign	Het
Zfp612	A	T	8: 110,089,974 (GRCm38)	L604F	probably damaging	Het

Other mutations in Dhx57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Dhx57	APN	17	80,274,976 (GRCm38)	missense	probably benign	0.00
IGL00811:Dhx57	APN	17	80,253,243 (GRCm38)	missense	probably damaging	1.00
IGL01389:Dhx57	APN	17	80,281,223 (GRCm38)	missense	probably benign	0.28
IGL01468:Dhx57	APN	17	80,255,610 (GRCm38)	nonsense	probably null
IGL01908:Dhx57	APN	17	80,251,443 (GRCm38)	missense	probably damaging	1.00
IGL01965:Dhx57	APN	17	80,268,850 (GRCm38)	missense	probably damaging	1.00
IGL02147:Dhx57	APN	17	80,260,323 (GRCm38)	missense	possibly damaging	0.95
IGL02275:Dhx57	APN	17	80,274,839 (GRCm38)	missense	probably benign	0.13
IGL02349:Dhx57	APN	17	80,255,571 (GRCm38)	missense	probably damaging	1.00
IGL02405:Dhx57	APN	17	80,255,550 (GRCm38)	critical splice donor site	probably null
IGL02588:Dhx57	APN	17	80,268,871 (GRCm38)	missense	probably damaging	1.00
IGL02673:Dhx57	APN	17	80,267,545 (GRCm38)	missense	probably damaging	1.00
IGL02836:Dhx57	APN	17	80,267,549 (GRCm38)	missense	probably damaging	1.00
IGL02889:Dhx57	APN	17	80,247,152 (GRCm38)	missense	possibly damaging	0.90
IGL03085:Dhx57	APN	17	80,258,097 (GRCm38)	missense	possibly damaging	0.48
P0014:Dhx57	UTSW	17	80,275,191 (GRCm38)	missense	probably benign	0.00
PIT4377001:Dhx57	UTSW	17	80,263,975 (GRCm38)	missense	probably damaging	0.96
R0100:Dhx57	UTSW	17	80,275,156 (GRCm38)	missense	possibly damaging	0.82
R0100:Dhx57	UTSW	17	80,275,156 (GRCm38)	missense	possibly damaging	0.82
R0129:Dhx57	UTSW	17	80,238,914 (GRCm38)	missense	probably damaging	1.00
R0200:Dhx57	UTSW	17	80,251,473 (GRCm38)	missense	probably damaging	1.00
R0309:Dhx57	UTSW	17	80,274,881 (GRCm38)	missense	probably damaging	1.00
R0375:Dhx57	UTSW	17	80,258,121 (GRCm38)	missense	probably damaging	1.00
R0396:Dhx57	UTSW	17	80,274,797 (GRCm38)	missense	probably benign	0.34
R0520:Dhx57	UTSW	17	80,258,175 (GRCm38)	missense	possibly damaging	0.95
R0554:Dhx57	UTSW	17	80,260,236 (GRCm38)	nonsense	probably null
R0661:Dhx57	UTSW	17	80,268,864 (GRCm38)	missense	probably damaging	1.00
R0883:Dhx57	UTSW	17	80,270,371 (GRCm38)	missense	probably damaging	1.00
R0900:Dhx57	UTSW	17	80,275,582 (GRCm38)	missense	probably benign
R0963:Dhx57	UTSW	17	80,275,527 (GRCm38)	missense	probably benign	0.01
R1469:Dhx57	UTSW	17	80,254,418 (GRCm38)	missense	probably damaging	1.00
R1469:Dhx57	UTSW	17	80,254,418 (GRCm38)	missense	probably damaging	1.00
R1660:Dhx57	UTSW	17	80,245,728 (GRCm38)	missense	possibly damaging	0.83
R1707:Dhx57	UTSW	17	80,275,226 (GRCm38)	missense	probably damaging	0.96
R1822:Dhx57	UTSW	17	80,253,085 (GRCm38)	critical splice donor site	probably null
R1853:Dhx57	UTSW	17	80,274,879 (GRCm38)	nonsense	probably null
R1942:Dhx57	UTSW	17	80,265,144 (GRCm38)	missense	probably damaging	1.00
R2043:Dhx57	UTSW	17	80,253,080 (GRCm38)	splice site	probably benign
R2106:Dhx57	UTSW	17	80,275,363 (GRCm38)	missense	probably damaging	1.00
R2127:Dhx57	UTSW	17	80,273,048 (GRCm38)	missense	probably damaging	1.00
R2183:Dhx57	UTSW	17	80,275,331 (GRCm38)	missense	probably benign	0.07
R2249:Dhx57	UTSW	17	80,281,234 (GRCm38)	missense	probably damaging	0.98
R2400:Dhx57	UTSW	17	80,260,416 (GRCm38)	missense	probably damaging	0.99
R2404:Dhx57	UTSW	17	80,254,304 (GRCm38)	missense	probably damaging	0.98
R2513:Dhx57	UTSW	17	80,241,949 (GRCm38)	splice site	probably null
R2869:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2869:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2874:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R3819:Dhx57	UTSW	17	80,265,074 (GRCm38)	critical splice donor site	probably null
R3964:Dhx57	UTSW	17	80,265,112 (GRCm38)	nonsense	probably null
R4535:Dhx57	UTSW	17	80,275,082 (GRCm38)	missense	probably damaging	1.00
R4666:Dhx57	UTSW	17	80,274,961 (GRCm38)	missense	probably damaging	1.00
R4788:Dhx57	UTSW	17	80,275,331 (GRCm38)	missense	probably benign	0.01
R4822:Dhx57	UTSW	17	80,242,167 (GRCm38)	splice site	probably null
R4863:Dhx57	UTSW	17	80,253,111 (GRCm38)	missense	probably damaging	1.00
R4988:Dhx57	UTSW	17	80,251,398 (GRCm38)	missense	probably damaging	1.00
R5391:Dhx57	UTSW	17	80,275,081 (GRCm38)	missense	probably damaging	1.00
R5559:Dhx57	UTSW	17	80,254,379 (GRCm38)	missense	possibly damaging	0.53
R5644:Dhx57	UTSW	17	80,238,873 (GRCm38)	missense	possibly damaging	0.73
R5997:Dhx57	UTSW	17	80,245,806 (GRCm38)	missense	probably damaging	0.96
R6090:Dhx57	UTSW	17	80,263,946 (GRCm38)	critical splice donor site	probably null
R6283:Dhx57	UTSW	17	80,274,805 (GRCm38)	missense	probably benign	0.00
R6802:Dhx57	UTSW	17	80,275,321 (GRCm38)	missense	probably benign	0.43
R6924:Dhx57	UTSW	17	80,238,815 (GRCm38)	missense	possibly damaging	0.71
R7151:Dhx57	UTSW	17	80,273,047 (GRCm38)	missense	probably damaging	1.00
R7386:Dhx57	UTSW	17	80,267,577 (GRCm38)	missense	possibly damaging	0.89
R7393:Dhx57	UTSW	17	80,255,571 (GRCm38)	missense	probably damaging	1.00
R7451:Dhx57	UTSW	17	80,247,113 (GRCm38)	missense	probably damaging	1.00
R7602:Dhx57	UTSW	17	80,274,861 (GRCm38)	missense	probably benign	0.06
R7733:Dhx57	UTSW	17	80,265,074 (GRCm38)	critical splice donor site	probably null
R7748:Dhx57	UTSW	17	80,265,117 (GRCm38)	missense	probably damaging	1.00
R7749:Dhx57	UTSW	17	80,238,858 (GRCm38)	missense	probably benign	0.04
R7772:Dhx57	UTSW	17	80,273,078 (GRCm38)	missense	possibly damaging	0.71
R8213:Dhx57	UTSW	17	80,275,156 (GRCm38)	missense	possibly damaging	0.82
R8370:Dhx57	UTSW	17	80,245,763 (GRCm38)	missense	probably damaging	1.00
R8371:Dhx57	UTSW	17	80,275,490 (GRCm38)	missense	probably benign	0.18
R8403:Dhx57	UTSW	17	80,278,289 (GRCm38)	missense	probably damaging	1.00
R8467:Dhx57	UTSW	17	80,254,424 (GRCm38)	missense	probably damaging	1.00
R8690:Dhx57	UTSW	17	80,270,365 (GRCm38)	critical splice donor site	probably benign
R9210:Dhx57	UTSW	17	80,268,909 (GRCm38)	missense	probably damaging	1.00
R9212:Dhx57	UTSW	17	80,268,909 (GRCm38)	missense	probably damaging	1.00
R9447:Dhx57	UTSW	17	80,242,094 (GRCm38)	missense	probably damaging	1.00
R9562:Dhx57	UTSW	17	80,254,388 (GRCm38)	missense	probably damaging	1.00
R9669:Dhx57	UTSW	17	80,245,701 (GRCm38)	missense	probably benign	0.09
R9717:Dhx57	UTSW	17	80,275,018 (GRCm38)	missense	probably damaging	1.00
Z1088:Dhx57	UTSW	17	80,251,348 (GRCm38)	missense	probably damaging	1.00
Z1176:Dhx57	UTSW	17	80,245,805 (GRCm38)	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