Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4377001:Dhx57'

554956

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

PIT4377001 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80263975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 732 (F732Y)

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

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

AlphaFold

Q6P5D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038166
AA Change: F679Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: F679Y

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 damaging
Transcript: ENSMUST00000086555
AA Change: F732Y

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: F732Y

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: 92.9%
3x: 90.8%
10x: 85.9%
20x: 75.6%

Validation Efficiency

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	T	C	4: 39,451,129	C112R	possibly damaging	Het
Acadl	G	A	1: 66,838,405	T329M	probably damaging	Het
Adgrv1	A	G	13: 81,528,985	L1909P	probably damaging	Het
Aff3	A	C	1: 38,538,963	V31G	probably damaging	Het
Bag3	A	G	7: 128,545,717	D352G	probably damaging	Het
Bcas3	A	T	11: 85,495,842	T368S	probably damaging	Het
Bmp3	A	G	5: 98,879,749	I434V	unknown	Het
Casq1	T	A	1: 172,212,001	T336S	probably benign	Het
Cib2	T	G	9: 54,559,987	E11A	probably damaging	Het
Cttn	C	A	7: 144,440,096	E393D	possibly damaging	Het
Dchs1	G	A	7: 105,757,588	R2237W	probably damaging	Het
Dclre1a	C	T	19: 56,544,405	A586T	probably benign	Het
Defb1	C	A	8: 21,776,700	Q17K	possibly damaging	Het
Dgat2	T	C	7: 99,157,135	Y285C	probably damaging	Het
Dock2	T	G	11: 34,721,008	D176A	probably benign	Het
Epha6	A	G	16: 60,205,552	I509T	probably damaging	Het
Fblim1	C	T	4: 141,595,409	R21H	probably damaging	Het
Fbxw20	T	A	9: 109,221,727	H371L	probably benign	Het
Foxa1	T	A	12: 57,542,781	I218F	probably damaging	Het
Fstl1	A	T	16: 37,815,805	I53F	probably benign	Het
Gdnf	A	G	15: 7,834,530	R141G	probably benign	Het
Gemin7	G	A	7: 19,565,317	R118*	probably null	Het
Gm43218	T	C	6: 70,240,581	T64A	probably benign	Het
Gnat3	G	A	5: 18,015,559	M243I		Het
Gramd1a	A	T	7: 31,143,670	I71N	possibly damaging	Het
Hist1h4k	C	G	13: 21,750,484	G8R	unknown	Het
Htt	A	T	5: 34,875,965	D1859V	probably benign	Het
Hyal1	T	C	9: 107,579,269	F415S	probably damaging	Het
Ighv1-47	T	C	12: 114,991,238	N74S	probably benign	Het
Igkv1-131	T	C	6: 67,766,208	R64G	probably benign	Het
Itgb1	T	A	8: 128,710,383	V95D	probably damaging	Het
Jak1	A	C	4: 101,179,551	N297K	probably benign	Het
Kcna4	T	A	2: 107,296,860	N646K	possibly damaging	Het
Krt42	A	G	11: 100,263,105	S442P	probably damaging	Het
Mcm3ap	G	A	10: 76,502,762	S1408N	possibly damaging	Het
Mdga2	T	A	12: 66,716,695	Q278L	probably damaging	Het
Mkln1	C	T	6: 31,474,354	T410M	probably damaging	Het
Nav3	T	C	10: 109,716,605	E1792G	probably damaging	Het
Ndrg1	A	G	15: 66,948,439	C49R	probably benign	Het
Neurl4	A	G	11: 69,910,406	H1201R	probably benign	Het
Nfasc	T	C	1: 132,583,066	Y1073C	unknown	Het
Nrbp2	A	G	15: 76,087,096	Y253H	probably benign	Het
Olfr1279	T	A	2: 111,306,880	V225D	probably damaging	Het
Olfr1295	T	C	2: 111,565,211	T78A	probably damaging	Het
Olfr95	T	A	17: 37,211,089	I255F	probably benign	Het
Pcsk5	A	T	19: 17,439,102	C1661S	probably damaging	Het
Qsox2	T	G	2: 26,220,912	D147A	probably damaging	Het
Siglec15	T	A	18: 78,057,375		probably benign	Het
Skint5	T	A	4: 113,597,703	T1011S	unknown	Het
Slc9a2	A	G	1: 40,743,841	T422A	probably damaging	Het
Tert	C	T	13: 73,628,261	T377I	possibly damaging	Het
Tex15	T	A	8: 33,571,101	S186R	probably damaging	Het
Tgfb1	A	G	7: 25,696,918	D212G	probably benign	Het
Tnc	T	G	4: 64,017,736	D321A	probably damaging	Het
Topbp1	G	A	9: 103,309,889	E98K	possibly damaging	Het
Ugp2	C	A	11: 21,370,203	M1I	probably null	Het
Vipr2	G	A	12: 116,094,798	D112N	probably benign	Het
Vps13a	T	C	19: 16,740,901	E485G	probably damaging	Het
Vps37a	T	A	8: 40,537,046	I198N	possibly damaging	Het
Zbtb9	T	C	17: 26,974,761	V380A	probably damaging	Het
Zfhx4	G	C	3: 5,242,742	V343L	probably damaging	Het

Other mutations in Dhx57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Dhx57	APN	17	80274976	missense	probably benign	0.00
IGL00811:Dhx57	APN	17	80253243	missense	probably damaging	1.00
IGL01389:Dhx57	APN	17	80281223	missense	probably benign	0.28
IGL01468:Dhx57	APN	17	80255610	nonsense	probably null
IGL01908:Dhx57	APN	17	80251443	missense	probably damaging	1.00
IGL01965:Dhx57	APN	17	80268850	missense	probably damaging	1.00
IGL02147:Dhx57	APN	17	80260323	missense	possibly damaging	0.95
IGL02275:Dhx57	APN	17	80274839	missense	probably benign	0.13
IGL02349:Dhx57	APN	17	80255571	missense	probably damaging	1.00
IGL02405:Dhx57	APN	17	80255550	critical splice donor site	probably null
IGL02588:Dhx57	APN	17	80268871	missense	probably damaging	1.00
IGL02673:Dhx57	APN	17	80267545	missense	probably damaging	1.00
IGL02836:Dhx57	APN	17	80267549	missense	probably damaging	1.00
IGL02889:Dhx57	APN	17	80247152	missense	possibly damaging	0.90
IGL03085:Dhx57	APN	17	80258097	missense	possibly damaging	0.48
P0014:Dhx57	UTSW	17	80275191	missense	probably benign	0.00
R0100:Dhx57	UTSW	17	80275156	missense	possibly damaging	0.82
R0100:Dhx57	UTSW	17	80275156	missense	possibly damaging	0.82
R0129:Dhx57	UTSW	17	80238914	missense	probably damaging	1.00
R0200:Dhx57	UTSW	17	80251473	missense	probably damaging	1.00
R0309:Dhx57	UTSW	17	80274881	missense	probably damaging	1.00
R0375:Dhx57	UTSW	17	80258121	missense	probably damaging	1.00
R0396:Dhx57	UTSW	17	80274797	missense	probably benign	0.34
R0520:Dhx57	UTSW	17	80258175	missense	possibly damaging	0.95
R0554:Dhx57	UTSW	17	80260236	nonsense	probably null
R0661:Dhx57	UTSW	17	80268864	missense	probably damaging	1.00
R0883:Dhx57	UTSW	17	80270371	missense	probably damaging	1.00
R0900:Dhx57	UTSW	17	80275582	missense	probably benign
R0963:Dhx57	UTSW	17	80275527	missense	probably benign	0.01
R1469:Dhx57	UTSW	17	80254418	missense	probably damaging	1.00
R1469:Dhx57	UTSW	17	80254418	missense	probably damaging	1.00
R1660:Dhx57	UTSW	17	80245728	missense	possibly damaging	0.83
R1707:Dhx57	UTSW	17	80275226	missense	probably damaging	0.96
R1822:Dhx57	UTSW	17	80253085	critical splice donor site	probably null
R1853:Dhx57	UTSW	17	80274879	nonsense	probably null
R1942:Dhx57	UTSW	17	80265144	missense	probably damaging	1.00
R2043:Dhx57	UTSW	17	80253080	splice site	probably benign
R2106:Dhx57	UTSW	17	80275363	missense	probably damaging	1.00
R2127:Dhx57	UTSW	17	80273048	missense	probably damaging	1.00
R2183:Dhx57	UTSW	17	80275331	missense	probably benign	0.07
R2249:Dhx57	UTSW	17	80281234	missense	probably damaging	0.98
R2400:Dhx57	UTSW	17	80260416	missense	probably damaging	0.99
R2404:Dhx57	UTSW	17	80254304	missense	probably damaging	0.98
R2513:Dhx57	UTSW	17	80241949	splice site	probably null
R2869:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2869:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2874:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R3819:Dhx57	UTSW	17	80265074	critical splice donor site	probably null
R3964:Dhx57	UTSW	17	80265112	nonsense	probably null
R4535:Dhx57	UTSW	17	80275082	missense	probably damaging	1.00
R4666:Dhx57	UTSW	17	80274961	missense	probably damaging	1.00
R4788:Dhx57	UTSW	17	80275331	missense	probably benign	0.01
R4822:Dhx57	UTSW	17	80242167	splice site	probably null
R4863:Dhx57	UTSW	17	80253111	missense	probably damaging	1.00
R4988:Dhx57	UTSW	17	80251398	missense	probably damaging	1.00
R5391:Dhx57	UTSW	17	80275081	missense	probably damaging	1.00
R5559:Dhx57	UTSW	17	80254379	missense	possibly damaging	0.53
R5644:Dhx57	UTSW	17	80238873	missense	possibly damaging	0.73
R5997:Dhx57	UTSW	17	80245806	missense	probably damaging	0.96
R6090:Dhx57	UTSW	17	80263946	critical splice donor site	probably null
R6177:Dhx57	UTSW	17	80272966	missense	possibly damaging	0.91
R6283:Dhx57	UTSW	17	80274805	missense	probably benign	0.00
R6802:Dhx57	UTSW	17	80275321	missense	probably benign	0.43
R6924:Dhx57	UTSW	17	80238815	missense	possibly damaging	0.71
R7151:Dhx57	UTSW	17	80273047	missense	probably damaging	1.00
R7386:Dhx57	UTSW	17	80267577	missense	possibly damaging	0.89
R7393:Dhx57	UTSW	17	80255571	missense	probably damaging	1.00
R7451:Dhx57	UTSW	17	80247113	missense	probably damaging	1.00
R7602:Dhx57	UTSW	17	80274861	missense	probably benign	0.06
R7733:Dhx57	UTSW	17	80265074	critical splice donor site	probably null
R7748:Dhx57	UTSW	17	80265117	missense	probably damaging	1.00
R7749:Dhx57	UTSW	17	80238858	missense	probably benign	0.04
R7772:Dhx57	UTSW	17	80273078	missense	possibly damaging	0.71
R8213:Dhx57	UTSW	17	80275156	missense	possibly damaging	0.82
R8370:Dhx57	UTSW	17	80245763	missense	probably damaging	1.00
R8371:Dhx57	UTSW	17	80275490	missense	probably benign	0.18
R8403:Dhx57	UTSW	17	80278289	missense	probably damaging	1.00
R8467:Dhx57	UTSW	17	80254424	missense	probably damaging	1.00
R8690:Dhx57	UTSW	17	80270365	critical splice donor site	probably benign
R9210:Dhx57	UTSW	17	80268909	missense	probably damaging	1.00
R9212:Dhx57	UTSW	17	80268909	missense	probably damaging	1.00
R9447:Dhx57	UTSW	17	80242094	missense	probably damaging	1.00
R9562:Dhx57	UTSW	17	80254388	missense	probably damaging	1.00
R9669:Dhx57	UTSW	17	80245701	missense	probably benign	0.09
R9717:Dhx57	UTSW	17	80275018	missense	probably damaging	1.00
Z1088:Dhx57	UTSW	17	80251348	missense	probably damaging	1.00
Z1176:Dhx57	UTSW	17	80245805	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATAGTCACACTCCATCCGCG -3'
(R):5'- TCCAGCTTCACAGACACTGC -3'

Sequencing Primer
(F):5'- GACACTAACCACAGTTCAGAGTTAG -3'
(R):5'- CAGCTTCACAGACACTGCTTTAATG -3'

Posted On

2019-06-07