Mutagenetix > Incidental Mutation

Incidental Mutation 'R6802:Dhx57'

533409

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

044915-MU

Accession Numbers

Essential gene?

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

Stock #

R6802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80275321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 285 (F285S)

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: F232S

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: F232S

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 benign
Transcript: ENSMUST00000086555
AA Change: F285S

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: F285S

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: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (54/54)

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	A	T	7: 116,099,490 (GRCm38)	K38N	probably damaging	Het
Agap3	T	A	5: 24,487,793 (GRCm38)	I408N	possibly damaging	Het
Apold1	G	A	6: 134,983,730 (GRCm38)	R49H	probably damaging	Het
Arfgef1	A	T	1: 10,189,452 (GRCm38)	M597K	probably benign	Het
Bsn	C	T	9: 108,110,624 (GRCm38)		probably benign	Het
Ccdc177	A	T	12: 80,759,283 (GRCm38)	D72E	probably damaging	Het
Coa8	G	T	12: 111,751,191 (GRCm38)	G162W	probably benign	Het
Ctdp1	A	T	18: 80,420,441 (GRCm38)		probably null	Het
Ctsj	A	T	13: 61,003,074 (GRCm38)	L190M	probably benign	Het
Dnah2	A	T	11: 69,423,690 (GRCm38)	V4051E	probably damaging	Het
F5	A	T	1: 164,179,356 (GRCm38)	D243V	probably damaging	Het
Fat3	C	T	9: 15,915,061 (GRCm38)	E4532K	possibly damaging	Het
Fbxo30	G	T	10: 11,291,480 (GRCm38)	G649C	probably damaging	Het
Focad	T	C	4: 88,274,203 (GRCm38)	S590P	unknown	Het
Focad	G	A	4: 88,344,684 (GRCm38)	V973I	unknown	Het
Glb1l3	T	C	9: 26,859,352 (GRCm38)		probably null	Het
Gli2	G	A	1: 118,842,065 (GRCm38)	R586C	probably damaging	Het
Gm6401	T	A	14: 41,966,917 (GRCm38)	E65V	probably damaging	Het
Gml2	T	A	15: 74,824,246 (GRCm38)	L163H	probably damaging	Het
Grm6	A	T	11: 50,853,389 (GRCm38)	Q229L	probably benign	Het
Gtf2h2	T	C	13: 100,480,543 (GRCm38)	M252V	probably benign	Het
Hsf4	G	A	8: 105,274,668 (GRCm38)	G309S	probably damaging	Het
Iglc1	T	C	16: 19,061,910 (GRCm38)		probably benign	Het
Irgq	A	G	7: 24,531,651 (GRCm38)	E89G	probably benign	Het
Kcnj6	T	C	16: 94,762,577 (GRCm38)	N354S	probably benign	Het
Lrguk	A	G	6: 34,062,457 (GRCm38)	H301R	probably damaging	Het
Mc4r	C	A	18: 66,859,417 (GRCm38)	M208I	probably benign	Het
Mrpl15	A	G	1: 4,776,730 (GRCm38)	S208P	probably benign	Het
Neil2	A	G	14: 63,191,814 (GRCm38)	F10S	probably damaging	Het
Nrg1	T	C	8: 31,821,264 (GRCm38)	R476G	probably damaging	Het
Or12k7	A	G	2: 37,068,415 (GRCm38)	M37V	probably benign	Het
Or4c100	A	G	2: 88,525,597 (GRCm38)	T5A	probably benign	Het
Or8k22	G	T	2: 86,333,185 (GRCm38)	T57K	possibly damaging	Het
Pacs1	T	C	19: 5,152,784 (GRCm38)	I357V	probably damaging	Het
Pla2g15	T	C	8: 106,150,581 (GRCm38)	L32P	probably damaging	Het
Pms1	A	T	1: 53,206,792 (GRCm38)	S529R	probably benign	Het
Prkra	A	T	2: 76,633,537 (GRCm38)	D260E	probably damaging	Het
Qsox1	A	C	1: 155,795,393 (GRCm38)	F127V	probably damaging	Het
Rabgap1l	A	T	1: 160,733,680 (GRCm38)	V161E	probably benign	Het
Robo1	T	G	16: 72,933,313 (GRCm38)	V214G	probably benign	Het
Ryr2	G	A	13: 11,686,966 (GRCm38)	A2935V	probably damaging	Het
Sgtb	A	T	13: 104,132,050 (GRCm38)	Q198L	probably benign	Het
Slc39a12	C	T	2: 14,420,085 (GRCm38)	L376F	probably benign	Het
Socs1	C	A	16: 10,784,358 (GRCm38)	V172L	probably benign	Het
Sprr2k	A	G	3: 92,433,364 (GRCm38)		probably benign	Het
Tgm1	C	T	14: 55,712,482 (GRCm38)		probably benign	Het
Tph2	A	T	10: 115,184,873 (GRCm38)	M6K	probably damaging	Het
Trav16	T	A	14: 53,743,484 (GRCm38)	C43*	probably null	Het
Ttll5	A	G	12: 85,879,386 (GRCm38)	E318G	probably damaging	Het
Vmn2r90	T	A	17: 17,712,089 (GRCm38)	I86N	probably damaging	Het
Zdhhc19	T	C	16: 32,506,358 (GRCm38)	S165P	possibly damaging	Het
Zfp352	A	T	4: 90,225,200 (GRCm38)	T526S	probably benign	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
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'- AAAGGTTGTGTCGTCATCAGCG -3'
(R):5'- TCCGCCAGTGTTTCTCAGAG -3'

Sequencing Primer
(F):5'- TGTCGTCATCAGCGTCAAG -3'
(R):5'- CCAGTGTTTCTCAGAGACGTTTG -3'

Posted On

2018-09-12