Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Dhx57'

636289

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

067655-MU

Accession Numbers

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

Essential gene?

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

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80275156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 340 (D340V)

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: D287V

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: D287V

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: D340V

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: D340V

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,756 (GRCm38)	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710 (GRCm38)	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866 (GRCm38)	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265 (GRCm38)	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607 (GRCm38)		probably benign	Het
Avil	A	T	10: 127,008,321 (GRCm38)	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883 (GRCm38)		probably null	Het
C77080	A	T	4: 129,221,459 (GRCm38)	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291 (GRCm38)	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881 (GRCm38)	E319K	unknown	Het
Chka	A	C	19: 3,885,882 (GRCm38)	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637 (GRCm38)	R753C	probably damaging	Het
Dicer1	A	T	12: 104,702,693 (GRCm38)	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133 (GRCm38)	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444 (GRCm38)	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071 (GRCm38)	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783 (GRCm38)	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052 (GRCm38)	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113 (GRCm38)	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092 (GRCm38)	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185 (GRCm38)	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460 (GRCm38)	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443 (GRCm38)	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888 (GRCm38)	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175 (GRCm38)		probably benign	Het
Igsf5	A	T	16: 96,372,988 (GRCm38)	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034 (GRCm38)	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805 (GRCm38)	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269 (GRCm38)	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515 (GRCm38)	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356 (GRCm38)	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721 (GRCm38)	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759 (GRCm38)	E40D	probably benign	Het
Npat	G	T	9: 53,570,570 (GRCm38)	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003 (GRCm38)	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203 (GRCm38)	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501 (GRCm38)	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092 (GRCm38)	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519 (GRCm38)	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696 (GRCm38)	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771 (GRCm38)	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257 (GRCm38)	L30Q	probably damaging	Het
Prdm15	T	A	16: 97,807,060 (GRCm38)	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386 (GRCm38)	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242 (GRCm38)	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691 (GRCm38)	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914 (GRCm38)	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408 (GRCm38)	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277 (GRCm38)	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999 (GRCm38)	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053 (GRCm38)	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011 (GRCm38)	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302 (GRCm38)		probably null	Het
Syt14	T	C	1: 192,986,829 (GRCm38)	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064 (GRCm38)	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586 (GRCm38)		probably null	Het
Trpv1	T	C	11: 73,254,251 (GRCm38)	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234 (GRCm38)	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525 (GRCm38)	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088 (GRCm38)	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939 (GRCm38)	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866 (GRCm38)	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722 (GRCm38)	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947 (GRCm38)	P232S	possibly 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
R6177:Dhx57	UTSW	17	80,272,966 (GRCm38)	missense	possibly damaging	0.91
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
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'- TTGCAAATTCCAAGGCCTTGC -3'
(R):5'- AACAGAGTCTGGACCATTGG -3'

Sequencing Primer
(F):5'- TGCCATAAAGGAACTCAGAAATATG -3'
(R):5'- AGTCTGGACCATTGGATTGGAAC -3'

Posted On

2020-07-13