Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03194:Dstyk'

412759

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dstyk

Ensembl Gene

ENSMUSG00000042046

Gene Name

dual serine/threonine and tyrosine protein kinase

Synonyms

C430014H23Rik, A930019K20Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

IGL03194

Quality Score

Status

Chromosome

Chromosomal Location

132417555-132466958 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 132456316 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139652 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045110

SMART Domains

Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046

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 benign
Transcript: ENSMUST00000188389

SMART Domains

Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046

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

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 83,734,018	S64G	possibly damaging	Het
Clcn7	T	C	17: 25,150,548	V306A	probably damaging	Het
Clec4b2	G	A	6: 123,200,987	G87D	probably benign	Het
Disp2	A	T	2: 118,787,629	R219W	probably damaging	Het
F830045P16Rik	T	C	2: 129,460,320	S451G	possibly damaging	Het
Fam155a	T	C	8: 9,232,975	D358G	probably damaging	Het
Fat2	T	A	11: 55,310,995	T418S	probably benign	Het
Fto	G	A	8: 91,409,787	D228N	probably damaging	Het
Gins4	A	T	8: 23,234,746		probably benign	Het
Gm10220	T	A	5: 26,121,233	R40W	probably damaging	Het
Gm11149	G	A	9: 49,546,346		probably benign	Het
Gm5431	T	G	11: 48,895,537		probably benign	Het
Hebp1	A	G	6: 135,155,192	M59T	probably benign	Het
Lrp1	A	T	10: 127,568,685	V1989D	probably damaging	Het
Lrrc6	A	T	15: 66,442,199	D317E	probably benign	Het
Ltc4s	T	C	11: 50,236,571	*151W	probably null	Het
Map3k21	A	G	8: 125,924,062	T268A	possibly damaging	Het
Mdp1	A	G	14: 55,658,987	L164P	probably damaging	Het
Mroh4	T	C	15: 74,611,539	T650A	probably damaging	Het
Mss51	T	C	14: 20,485,097	N202D	probably benign	Het
Mtus2	G	A	5: 148,107,103	A834T	probably damaging	Het
Ncoa6	A	G	2: 155,415,868	M585T	possibly damaging	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Npvf	A	C	6: 50,650,898	D180E	possibly damaging	Het
Nup188	A	T	2: 30,304,334	Y173F	possibly damaging	Het
Oas3	C	A	5: 120,758,953	A868S	probably damaging	Het
Pkhd1l1	A	G	15: 44,518,135	T1086A	probably damaging	Het
Pla2g6	G	A	15: 79,317,785	P62L	probably damaging	Het
Rara	T	C	11: 98,971,664	M297T	possibly damaging	Het
Tmc1	T	C	19: 20,804,653	E567G	probably damaging	Het
Tnxb	C	T	17: 34,695,947	Q1970*	probably null	Het
Usp11	T	C	X: 20,712,417	I162T	probably benign	Het
Utrn	A	G	10: 12,406,429		probably benign	Het
Zfhx3	A	G	8: 108,794,727	E827G	probably 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
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
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

Posted On

2016-08-02