Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Dhx57'

60787

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

038457-MU

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R0200 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80251473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1019 (L1019H)

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: L966H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: L966H

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: L1019H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: L1019H

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: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

Validation Efficiency

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Aatf	T	C	11: 84,445,676	K466E	probably damaging	Het
Abcc3	T	C	11: 94,355,074	D1245G	probably damaging	Het
Adam12	T	C	7: 133,974,416		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ank1	T	G	8: 23,096,812	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,441,966	S402G	possibly damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,979,814	Q107*	probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Cacng3	T	A	7: 122,671,785	C4*	probably null	Het
Ccdc129	T	C	6: 55,897,956	L297P	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cecr2	T	G	6: 120,761,797	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,480,720	V17A	probably benign	Het
Col20a1	T	C	2: 181,000,438	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,261,776	M156K	possibly damaging	Het
Defb25	C	A	2: 152,622,412	V71L	probably benign	Het
Dhx35	A	T	2: 158,829,623	M325L	probably benign	Het
Dnah6	T	A	6: 73,069,420	D3195V	probably damaging	Het
Dph5	A	G	3: 115,928,703	S277G	probably benign	Het
Dpm1	C	A	2: 168,223,155		probably null	Het
Dsg1a	A	T	18: 20,340,938	M1023L	probably benign	Het
Egf	A	G	3: 129,706,233	Y252H	probably benign	Het
Egf	A	G	3: 129,737,549	S126P	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,361,040	Y455C	probably damaging	Het
Gm14085	T	A	2: 122,527,447	*661R	probably null	Het
Iars	A	T	13: 49,726,202	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,634,676	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,441,303	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,145,025	D350N	probably damaging	Het
Irgc1	T	C	7: 24,432,006	D462G	probably benign	Het
Jph3	A	G	8: 121,784,833	E520G	probably benign	Het
Kcna2	T	A	3: 107,105,160	D352E	probably benign	Het
Klk4	T	A	7: 43,885,361	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,985,297	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,970,690		probably null	Het
Lhpp	C	T	7: 132,610,677		probably benign	Het
Lypd3	T	A	7: 24,640,231	V241D	probably damaging	Het
Lyz2	T	A	10: 117,280,773	N57Y	possibly damaging	Het
Man1a	A	G	10: 54,074,498	V176A	probably damaging	Het
Mcm4	G	A	16: 15,629,639	T487I	probably benign	Het
Mettl21c	T	A	1: 44,013,654	I68F	probably damaging	Het
Miip	T	A	4: 147,862,263	T313S	probably damaging	Het
Mog	A	T	17: 37,012,419	I209K	probably damaging	Het
Myo1c	C	A	11: 75,672,182	D997E	probably benign	Het
Npc1	T	C	18: 12,219,204	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr231	T	C	1: 174,117,512	H168R	probably benign	Het
Olfr531	T	C	7: 140,400,875	Y57C	probably damaging	Het
Olfr56	T	A	11: 49,135,047	M285K	probably damaging	Het
Opa1	A	G	16: 29,614,129	N544S	probably benign	Het
Pam	C	T	1: 97,894,401		probably null	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,323,593	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,197,088	V1191M	probably damaging	Het
Polk	T	A	13: 96,496,822	N238Y	probably benign	Het
Ptprq	T	C	10: 107,685,157	N718S	probably benign	Het
Rsrc1	A	T	3: 67,180,861	H176L	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,483,831	K238R	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Slc12a4	T	C	8: 105,951,617	R315G	probably benign	Het
Slc16a10	A	G	10: 40,040,616	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spata7	T	A	12: 98,663,169	S332T	probably benign	Het
Spsb1	A	G	4: 149,898,216	*274R	probably null	Het
Sspo	T	G	6: 48,486,415	V3767G	probably null	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Tgm6	T	A	2: 130,152,945		probably null	Het
Them7	A	C	2: 105,297,917	N81T	probably damaging	Het
Tinag	C	A	9: 76,951,935	A464S	probably damaging	Het
Tmem217	T	G	17: 29,526,310	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,795,683	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,432,099	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,544,380	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,883,818	M242T	probably benign	Het
Xkr4	T	C	1: 3,670,663	N229S	probably benign	Het
Zcchc2	T	A	1: 106,004,123	L352M	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp638	T	C	6: 83,967,354	L1018P	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
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
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'- GAGCATCAGCTTGCCTATCCTCAC -3'
(R):5'- GAACTGCCTGTCATAATCCGAACCC -3'

Sequencing Primer
(F):5'- TATCCTCACGTCCACGGG -3'
(R):5'- AAGATCCCTCTGCTTCATTCTAC -3'

Posted On

2013-07-24