Mutagenetix > Incidental Mutation

Incidental Mutation 'R1509:Dstyk'

168107

Institutional Source

Beutler Lab

Gene Symbol

Dstyk

Ensembl Gene

ENSMUSG00000042046

Gene Name

dual serine/threonine and tyrosine protein kinase

Synonyms

C430014H23Rik, A930019K20Rik

MMRRC Submission

039556-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R1509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132417555-132466958 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132456346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 655 (E655G)

Ref Sequence

ENSEMBL: ENSMUSP00000035358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045110] [ENSMUST00000188389]

AlphaFold

Q6XUX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000045110
AA Change: E655G

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

SMART Domains

Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: E655G

Domain	Start	End	E-Value	Type
low complexity region	15	22	N/A	INTRINSIC
low complexity region	57	73	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
low complexity region	285	299	N/A	INTRINSIC
low complexity region	630	641	N/A	INTRINSIC
Pfam:Pkinase_Tyr	651	904	6.9e-37	PFAM
Pfam:Pkinase	651	905	5.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188006

Predicted Effect

probably damaging
Transcript: ENSMUST00000188389
AA Change: E655G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
AA Change: E655G

Domain	Start	End	E-Value	Type
low complexity region	15	22	N/A	INTRINSIC
low complexity region	57	73	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
low complexity region	285	299	N/A	INTRINSIC
low complexity region	630	641	N/A	INTRINSIC
S_TKc	650	859	2e-13	SMART

Meta Mutation Damage Score

0.1237

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

99% (89/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous knockout results in impaired spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,192,647	S132P	probably benign	Het
4930430A15Rik	A	T	2: 111,218,627	M269K	probably benign	Het
AC153895.1	T	C	6: 50,043,471	R54G	unknown	Het
Acot12	G	A	13: 91,771,875		probably null	Het
Adhfe1	T	A	1: 9,553,446	D98E	probably benign	Het
Ago2	A	G	15: 73,116,364	F594S	probably damaging	Het
Aldh18a1	A	G	19: 40,557,483	I620T	probably damaging	Het
Aspscr1	C	A	11: 120,701,516	A294D	probably damaging	Het
BC067074	A	G	13: 113,368,256	N431S	probably damaging	Het
Bod1l	C	G	5: 41,819,540	R1477T	probably damaging	Het
Ccdc18	C	A	5: 108,188,978	A741D	possibly damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap52	C	T	11: 67,938,993	V317I	probably benign	Het
Cgn	A	T	3: 94,774,258	L509Q	probably benign	Het
Crb2	A	G	2: 37,786,619	H204R	probably benign	Het
Ddx39	G	A	8: 83,719,898	V99M	probably damaging	Het
Dis3l2	T	A	1: 87,021,086	C582S	possibly damaging	Het
Dmbt1	G	A	7: 131,074,331		probably benign	Het
Dnah6	T	C	6: 73,027,442	E3846G	probably damaging	Het
Epha4	T	C	1: 77,380,886	Y825C	probably damaging	Het
Esp36	T	A	17: 38,417,282	N36I	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fem1c	A	G	18: 46,524,213	S145P	probably benign	Het
Galnt13	T	C	2: 54,733,082	I80T	probably damaging	Het
Gm10125	A	G	18: 5,583,794		noncoding transcript	Het
Gm5698	T	C	1: 30,977,647	T108A	probably benign	Het
Hipk3	A	G	2: 104,441,262	S442P	probably benign	Het
Hmcn2	T	A	2: 31,314,479	V22D	possibly damaging	Het
Hspg2	C	T	4: 137,511,241		probably benign	Het
Ide	A	G	19: 37,285,204		probably null	Het
Ifnar1	C	A	16: 91,503,496	P462Q	probably damaging	Het
Itgb2l	T	A	16: 96,426,849	I485F	probably benign	Het
Jakmip3	C	T	7: 139,027,776	R549W	possibly damaging	Het
Lrrc36	A	G	8: 105,461,129	Q680R	probably damaging	Het
Lysmd3	T	G	13: 81,669,271	H122Q	probably benign	Het
Macf1	C	A	4: 123,684,009	V61L	possibly damaging	Het
Map1b	T	C	13: 99,431,528	T1562A	unknown	Het
Map3k20	A	T	2: 72,364,624		probably benign	Het
Mroh8	A	G	2: 157,233,205	V457A	probably benign	Het
Mrpl40	T	A	16: 18,875,409		probably null	Het
Ms4a10	C	T	19: 10,964,108	V166I	probably benign	Het
Mycl	A	G	4: 123,000,307	D300G	probably damaging	Het
Naca	T	A	10: 128,043,397		probably benign	Het
Ncoa4	T	C	14: 32,173,434	S172P	probably damaging	Het
Nfatc3	T	C	8: 106,083,854	F421L	possibly damaging	Het
Nucb1	C	A	7: 45,495,225	K301N	probably benign	Het
Olfr1451	T	A	19: 12,999,451	I155N	possibly damaging	Het
Olfr366	A	G	2: 37,219,954	H155R	probably damaging	Het
Olfr629	A	T	7: 103,741,036	M68K	probably benign	Het
Panx1	A	T	9: 15,010,045	V178E	possibly damaging	Het
Pkd1l3	G	A	8: 109,640,770	V1210I	probably damaging	Het
Polr2a	A	T	11: 69,747,213	H143Q	possibly damaging	Het
Prdm12	G	A	2: 31,654,174	R263H	probably damaging	Het
Prkdc	A	C	16: 15,731,566	K1998T	probably damaging	Het
Rab11fip1	A	T	8: 27,153,023	S583T	probably damaging	Het
Rnf157	T	A	11: 116,347,095	T567S	probably benign	Het
Rp1	T	C	1: 4,347,694	K1065R	probably damaging	Het
Rp1	A	G	1: 4,348,537	I784T	probably benign	Het
Rps10	A	C	17: 27,631,208	F150V	probably benign	Het
Rrp12	A	T	19: 41,882,200	F499I	probably damaging	Het
Sez6l2	G	A	7: 126,963,363	R604H	probably damaging	Het
Slc25a21	G	T	12: 56,858,079	Q57K	probably benign	Het
Slc27a2	A	G	2: 126,553,314	T54A	possibly damaging	Het
Slc9a9	T	A	9: 95,228,958	S610T	probably benign	Het
Smc1b	A	T	15: 85,086,134	S973T	probably benign	Het
Smc6	G	A	12: 11,279,733	S164N	possibly damaging	Het
Sp1	A	G	15: 102,407,879	T32A	possibly damaging	Het
Spen	T	C	4: 141,475,635	I1894V	probably benign	Het
Spen	T	C	4: 141,475,700	K1872R	possibly damaging	Het
Stab1	C	A	14: 31,151,584		probably benign	Het
Taar7d	T	G	10: 24,028,204	F328C	probably damaging	Het
Ticam1	A	T	17: 56,271,113	S327R	probably benign	Het
Tmem248	C	T	5: 130,229,454		probably benign	Het
Tom1	T	C	8: 75,054,631	S83P	probably damaging	Het
Txk	T	A	5: 72,699,110	Y446F	probably damaging	Het
Ubap1l	T	A	9: 65,371,955	C179S	probably benign	Het
Utrn	T	C	10: 12,455,441	E474G	possibly damaging	Het
Vmn2r14	T	C	5: 109,215,996	M685V	probably benign	Het
Vmn2r7	A	T	3: 64,716,460	Y146*	probably null	Het
Wdr1	G	A	5: 38,540,562	T220M	probably damaging	Het
Xpo7	T	C	14: 70,678,142	D726G	probably damaging	Het
Zbtb14	C	G	17: 69,387,764	I152M	probably benign	Het
Zbtb3	A	G	19: 8,803,407	D128G	probably damaging	Het
Zfp462	T	A	4: 55,007,667	D35E	probably damaging	Het
Zfp467	A	G	6: 48,438,687	S344P	possibly damaging	Het
Zfpm1	A	T	8: 122,307,546	D73V	possibly damaging	Het

Other mutations in Dstyk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Dstyk	APN	1	132459988	missense	probably damaging	1.00
IGL01753:Dstyk	APN	1	132462939	missense	probably damaging	1.00
IGL02156:Dstyk	APN	1	132449926	missense	probably benign	0.27
IGL02175:Dstyk	APN	1	132449391	nonsense	probably null
IGL02721:Dstyk	APN	1	132449316	missense	probably benign	0.03
IGL03194:Dstyk	APN	1	132456316	splice site	probably benign
PIT4305001:Dstyk	UTSW	1	132455896	nonsense	probably null
PIT4791001:Dstyk	UTSW	1	132449927	missense	probably benign	0.00
R0135:Dstyk	UTSW	1	132462934	missense	probably damaging	1.00
R0309:Dstyk	UTSW	1	132456864	splice site	probably benign
R0399:Dstyk	UTSW	1	132453080	splice site	probably benign
R0781:Dstyk	UTSW	1	132453325	splice site	probably benign
R1110:Dstyk	UTSW	1	132453325	splice site	probably benign
R1138:Dstyk	UTSW	1	132463486	missense	probably benign	0.00
R1300:Dstyk	UTSW	1	132449913	missense	probably benign	0.02
R1330:Dstyk	UTSW	1	132449880	missense	probably benign	0.25
R1667:Dstyk	UTSW	1	132456919	missense	probably damaging	1.00
R1728:Dstyk	UTSW	1	132456984	missense	probably damaging	1.00
R1729:Dstyk	UTSW	1	132456984	missense	probably damaging	1.00
R1730:Dstyk	UTSW	1	132456984	missense	probably damaging	1.00
R1739:Dstyk	UTSW	1	132456984	missense	probably damaging	1.00
R1757:Dstyk	UTSW	1	132434094	splice site	probably benign
R1762:Dstyk	UTSW	1	132456984	missense	probably damaging	1.00
R1783:Dstyk	UTSW	1	132456984	missense	probably damaging	1.00
R1784:Dstyk	UTSW	1	132456984	missense	probably damaging	1.00
R1785:Dstyk	UTSW	1	132456984	missense	probably damaging	1.00
R1829:Dstyk	UTSW	1	132449595	missense	probably benign	0.06
R2031:Dstyk	UTSW	1	132453191	missense	probably damaging	0.99
R2124:Dstyk	UTSW	1	132453119	missense	possibly damaging	0.64
R2132:Dstyk	UTSW	1	132449484	missense	probably null
R2143:Dstyk	UTSW	1	132463375	missense	probably damaging	1.00
R2144:Dstyk	UTSW	1	132463375	missense	probably damaging	1.00
R2145:Dstyk	UTSW	1	132463375	missense	probably damaging	1.00
R3804:Dstyk	UTSW	1	132449726	missense	probably damaging	1.00
R4277:Dstyk	UTSW	1	132455413	splice site	probably null
R4504:Dstyk	UTSW	1	132434389	missense	possibly damaging	0.81
R4674:Dstyk	UTSW	1	132463390	missense	probably benign	0.42
R4697:Dstyk	UTSW	1	132449487	missense	probably damaging	0.98
R4828:Dstyk	UTSW	1	132434137	missense	probably benign
R4940:Dstyk	UTSW	1	132453106	missense	probably damaging	0.96
R5029:Dstyk	UTSW	1	132449324	missense	probably benign	0.01
R5678:Dstyk	UTSW	1	132453291	missense	probably benign
R5900:Dstyk	UTSW	1	132456979	missense	probably damaging	1.00
R5935:Dstyk	UTSW	1	132454137	missense	probably damaging	0.99
R5973:Dstyk	UTSW	1	132434411	missense	probably damaging	0.99
R6217:Dstyk	UTSW	1	132459939	missense	probably damaging	1.00
R6381:Dstyk	UTSW	1	132456765	splice site	probably null
R6429:Dstyk	UTSW	1	132449804	nonsense	probably null
R7038:Dstyk	UTSW	1	132454109	missense	probably benign	0.32
R7240:Dstyk	UTSW	1	132454123	missense	probably benign	0.02
R7411:Dstyk	UTSW	1	132417666	missense	probably benign	0.01
R7714:Dstyk	UTSW	1	132456876	missense	possibly damaging	0.93
R8805:Dstyk	UTSW	1	132434225	missense	probably damaging	1.00
R9564:Dstyk	UTSW	1	132434285	missense	probably damaging	1.00
R9785:Dstyk	UTSW	1	132453300	missense	probably damaging	0.96
R9789:Dstyk	UTSW	1	132454121	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAAAGCTGCCTCAGCACTTAG -3'
(R):5'- AGGTCCACACATAGTCCAAGTCCAG -3'

Sequencing Primer
(F):5'- CTGCTGCTTATGTAATGTGAACAAC -3'
(R):5'- TGTGATAGGAAACTTATCCCAGCC -3'

Posted On

2014-04-13