Mutagenetix > Incidental Mutations

Incidental Mutation 'R7240:Dstyk'

563121

Institutional Source

Beutler Lab

Gene Symbol

Dstyk

Ensembl Gene

ENSMUSG00000042046

Gene Name

dual serine/threonine and tyrosine protein kinase

Synonyms

C430014H23Rik, A930019K20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132417555-132466958 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132454123 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 538 (M538I)

Ref Sequence

ENSEMBL: ENSMUSP00000035358 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045110
AA Change: M538I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: M538I

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

probably benign
Transcript: ENSMUST00000188389
AA Change: M538I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
AA Change: M538I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	probably benign	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
R1509:Dstyk	UTSW	1	132456346	missense	probably damaging	1.00
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
R7411:Dstyk	UTSW	1	132417666	missense	probably benign	0.01
R7714:Dstyk	UTSW	1	132456876	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTGTTTGGGCAAGCAGAAGG -3'
(R):5'- AGGCTGAGTCTTTACTGTCTTTAC -3'

Sequencing Primer
(F):5'- CTTGCTATATAGAACAGGCTGGCC -3'
(R):5'- ACCTAATGATGTAGAATTTTGTGGC -3'

Posted On

2019-06-26