Mutagenetix > Incidental Mutation

Incidental Mutation 'R0129:Dhx57'

21597

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

038414-MU

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R0129 (G1)

Quality Score

133

Status

Validated (trace)

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80238914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1347 (K1347R)

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: K1294R

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: K1294R

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: K1347R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: K1347R

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

0.1532

Coding Region Coverage

1x: 99.1%
3x: 97.7%
10x: 92.2%
20x: 74.4%

Validation Efficiency

100% (80/80)

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	G	18: 74,787,194	D31G	probably damaging	Het
Actr2	A	G	11: 20,100,939		probably benign	Het
Adcy8	A	G	15: 64,747,013	C764R	probably benign	Het
Ago4	A	C	4: 126,517,183	F171C	possibly damaging	Het
Akt2	T	C	7: 27,636,970	F408S	probably damaging	Het
Ankrd24	T	C	10: 81,638,329	L26P	probably damaging	Het
Appl1	A	T	14: 26,928,643	M524K	probably damaging	Het
Arhgef11	T	A	3: 87,728,063	I922N	probably damaging	Het
Atp5h	T	C	11: 115,417,918	E47G	probably damaging	Het
Birc6	A	G	17: 74,528,760	D70G	probably benign	Het
Bola2	G	A	7: 126,696,559	V56M	probably damaging	Het
Ccdc151	G	T	9: 21,993,552	R313S	probably damaging	Het
Cd300lg	A	G	11: 102,054,092		probably null	Het
Cdc42bpb	A	G	12: 111,304,959		probably benign	Het
Ceacam20	A	G	7: 19,976,260	N403S	probably damaging	Het
Cenpf	T	C	1: 189,659,650	M662V	probably benign	Het
Chd3	C	A	11: 69,348,501	E1607*	probably null	Het
Chtf18	A	T	17: 25,727,311	Y9*	probably null	Het
Clta	A	G	4: 44,032,424	N200S	probably benign	Het
Csmd1	G	A	8: 16,079,942	S1722F	possibly damaging	Het
Dennd4a	T	C	9: 64,893,294	S905P	probably damaging	Het
Dmc1	A	T	15: 79,596,240		probably benign	Het
Dnhd1	G	T	7: 105,720,924	A4519S	probably benign	Het
Dnmbp	A	G	19: 43,850,027	C1120R	probably benign	Het
Efs	C	T	14: 54,917,223	A427T	probably damaging	Het
Erich6	T	C	3: 58,624,378	E399G	probably damaging	Het
Espl1	A	G	15: 102,316,648	T1431A	probably benign	Het
Fam184b	A	G	5: 45,532,778	S830P	probably damaging	Het
Fam49a	C	T	12: 12,362,349	T204I	probably damaging	Het
Herc1	T	A	9: 66,448,075	C2203S	probably damaging	Het
Itpr1	G	A	6: 108,349,676	V120M	probably damaging	Het
Kcnh7	G	A	2: 62,716,159	T1026I	probably benign	Het
Kif1b	A	G	4: 149,261,201	I394T	probably benign	Het
Ldlrap1	A	C	4: 134,757,422	V87G	probably damaging	Het
Lgals12	C	T	19: 7,603,038	V155I	probably damaging	Het
Limch1	A	T	5: 66,959,590	N116I	probably damaging	Het
Lonp2	C	T	8: 86,634,890	R232C	probably damaging	Het
Lrch1	C	A	14: 74,835,746	C151F	probably benign	Het
Lrig3	A	G	10: 126,006,943	Y579C	probably damaging	Het
Macf1	T	C	4: 123,433,275	S4808G	probably damaging	Het
Mapkap1	A	T	2: 34,623,482	K501N	probably damaging	Het
Mdc1	G	T	17: 35,854,445	R1523L	probably benign	Het
Mlh3	C	T	12: 85,266,140		probably benign	Het
Mul1	T	C	4: 138,437,721		probably benign	Het
Mybl2	G	A	2: 163,059,491		probably benign	Het
Notch1	G	C	2: 26,460,458	H2223Q	probably benign	Het
Notch2	C	A	3: 98,146,620	L2200M	probably benign	Het
Olfr1329	A	T	4: 118,917,470		probably null	Het
Olfr160	T	C	9: 37,711,940	Y113C	probably damaging	Het
Olfr291	T	A	7: 84,856,988	F206L	probably benign	Het
Olfr358	G	A	2: 37,005,045	R190*	probably null	Het
Plekhs1	T	C	19: 56,477,290		probably null	Het
Ppm1h	G	A	10: 122,941,355	G509R	probably damaging	Het
Ppp2r3c	C	T	12: 55,298,422	E94K	probably damaging	Het
Ppp2r5e	T	A	12: 75,462,390	I372F	probably damaging	Het
Ptprt	G	A	2: 162,278,070	T159I	probably benign	Het
Rab20	A	G	8: 11,454,415	F95S	probably damaging	Het
Rfc3	A	C	5: 151,651,151	M1R	probably null	Het
Skp2	A	G	15: 9,125,193	S100P	probably damaging	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sspo	A	T	6: 48,455,418	T684S	probably benign	Het
Syt3	A	G	7: 44,393,358	K355E	probably damaging	Het
Tcp10a	A	T	17: 7,343,504	K355N	probably damaging	Het
Tnrc18	A	G	5: 142,765,045		probably benign	Het
Tsfm	A	G	10: 127,030,470	L74P	probably benign	Het
Ttn	G	C	2: 76,734,265	N28509K	probably damaging	Het
Ube2l6	G	A	2: 84,798,908	M1I	probably null	Het
Vmn2r80	T	A	10: 79,169,496	H322Q	probably damaging	Het
Zkscan8	A	T	13: 21,522,271	S212T	probably benign	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
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'- TGTCCCCACGTTTTCAGAAACACC -3'
(R):5'- GCCTGAATCCAGATTTTCAAGCACAC -3'

Sequencing Primer
(F):5'- CGTTTTCAGAAACACCAGTGTGG -3'
(R):5'- gaaacacatgctgtaacccc -3'

Posted On

2013-04-11