Mutagenetix > Incidental Mutation

Incidental Mutation 'R2043:Dhx57'

225251

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

040050-MU

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R2043 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 80253080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

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

AlphaFold

Q6P5D3

Predicted Effect

probably benign
Transcript: ENSMUST00000038166

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051

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

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (47/49)

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	G	8: 24,996,653		probably null	Het
Adnp2	A	C	18: 80,128,326	M956R	probably damaging	Het
Aldh1l1	T	A	6: 90,557,332	D36E	probably benign	Het
Ankmy1	T	C	1: 92,876,527		probably benign	Het
Apaf1	T	C	10: 91,037,028	D718G	probably damaging	Het
Ascc3	C	T	10: 50,700,520	P857L	probably damaging	Het
Atp8b1	T	C	18: 64,605,200	K60R	possibly damaging	Het
Bub1	A	T	2: 127,804,220	C947S	probably damaging	Het
Cacna1c	C	T	6: 118,596,088	G2017D	probably benign	Het
Capn3	A	G	2: 120,491,901	N414S	possibly damaging	Het
Ccdc110	T	C	8: 45,942,827	M585T	probably benign	Het
Cep85l	A	T	10: 53,358,128	N51K	possibly damaging	Het
Cftr	T	C	6: 18,320,935	F1415L	probably benign	Het
Cln5	T	C	14: 103,075,944	S211P	probably damaging	Het
Dcaf5	A	T	12: 80,340,217	D378E	probably benign	Het
Dsn1	G	A	2: 157,005,353	S55L	possibly damaging	Het
Eif5b	T	C	1: 38,041,819	F747S	probably damaging	Het
Fam189b	A	G	3: 89,185,567	Y251C	probably damaging	Het
Fbxo25	A	G	8: 13,921,905	I86V	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Glcci1	T	A	6: 8,582,590	I130K	probably damaging	Het
Gm5424	A	G	10: 62,071,211		noncoding transcript	Het
Gsdma	G	A	11: 98,666,220	V54M	possibly damaging	Het
Heatr3	T	A	8: 88,147,694		probably benign	Het
Hist1h3c	A	G	13: 23,745,295	F68S	probably damaging	Het
Hspa13	A	G	16: 75,758,268	L310S	probably benign	Het
Il6st	A	C	13: 112,480,219	Q100P	probably benign	Het
Ly6g6e	G	A	17: 35,077,864	R27Q	possibly damaging	Het
Mis18bp1	A	T	12: 65,149,418	I524K	probably damaging	Het
Myo18a	T	C	11: 77,823,363	I761T	probably damaging	Het
Mypop	T	C	7: 19,001,019		probably benign	Het
Olfr610	A	G	7: 103,506,943	M1T	probably null	Het
Pcdh20	G	A	14: 88,467,155	T903I	probably benign	Het
Pdk4	A	T	6: 5,485,502	C396S	probably benign	Het
Piwil2	A	G	14: 70,391,470	V699A	probably benign	Het
Plekha5	T	C	6: 140,552,804		probably benign	Het
Ralgapa1	T	A	12: 55,677,026	I1572L	probably damaging	Het
Rasgrf2	T	A	13: 92,030,843	M241L	possibly damaging	Het
Ryr1	C	T	7: 29,059,631	R3374H	probably damaging	Het
Slc24a2	A	T	4: 86,996,645	M519K	probably damaging	Het
Smg9	T	A	7: 24,405,576	I67N	possibly damaging	Het
Spg20	G	A	3: 55,127,548	A452T	probably damaging	Het
Ush2a	T	A	1: 188,916,256	F4686Y	probably benign	Het
Zfp146	T	C	7: 30,162,239	K126R	possibly damaging	Het
Zfp386	T	A	12: 116,059,161	D131E	probably benign	Het
Zfp423	T	C	8: 87,782,618	D366G	probably damaging	Het
Zfp729a	T	C	13: 67,621,172	K313E	probably damaging	Het
Zfp955a	G	A	17: 33,242,553	H202Y	possibly 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
PIT4377001:Dhx57	UTSW	17	80263975	missense	probably damaging	0.96
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
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'- TCTTCTTGAGGATGTGAAAGTCTC -3'
(R):5'- CCTTTCCAGATACGACGCAG -3'

Sequencing Primer
(F):5'- ATGTGAAAGTCTCTGTGTGCAG -3'
(R):5'- AGTCTAGAGGACACGTTCGTG -3'

Posted On

2014-08-25