Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Dstyk'

671969

Institutional Source

Beutler Lab

Gene Symbol

Dstyk

Ensembl Gene

ENSMUSG00000042046

Gene Name

dual serine/threonine and tyrosine protein kinase

Synonyms

A930019K20Rik, C430014H23Rik

MMRRC Submission

068642-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.334) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132345293-132394696 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132361963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 131 (L131Q)

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: L131Q

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

SMART Domains

Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: L131Q

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 damaging
Transcript: ENSMUST00000188389
AA Change: L131Q

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

SMART Domains

Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
AA Change: L131Q

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (70/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,226,737 (GRCm39)	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,313,285 (GRCm39)		probably benign	Het
Actl6b	G	A	5: 137,552,918 (GRCm39)	M82I	probably benign	Het
Bmp2	T	A	2: 133,403,254 (GRCm39)	D268E	probably damaging	Het
Cacng7	T	A	7: 3,415,298 (GRCm39)	L221H	probably damaging	Het
Ccser2	A	G	14: 36,601,712 (GRCm39)	V224A	probably damaging	Het
Cdc40	A	G	10: 40,733,576 (GRCm39)	F125L	probably damaging	Het
Cfap46	C	T	7: 139,211,979 (GRCm39)	A1669T	unknown	Het
Cfap58	A	T	19: 47,941,535 (GRCm39)	E301V	probably damaging	Het
Clcn2	C	A	16: 20,532,168 (GRCm39)	G96C	probably damaging	Het
Cotl1	T	A	8: 120,536,944 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,216,110 (GRCm39)	A812T	probably damaging	Het
Cracd	T	C	5: 77,006,489 (GRCm39)	V950A	unknown	Het
Crnkl1	T	C	2: 145,773,350 (GRCm39)		probably null	Het
Cry1	A	G	10: 84,992,969 (GRCm39)	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,540,530 (GRCm39)	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,327,462 (GRCm39)	F425L	probably damaging	Het
Dek	A	T	13: 47,252,930 (GRCm39)	N158K	unknown	Het
Dgcr8	T	A	16: 18,076,161 (GRCm39)	Q674L	probably damaging	Het
Dlec1	C	A	9: 118,941,650 (GRCm39)	S345R	probably benign	Het
Dnah7b	T	A	1: 46,273,305 (GRCm39)	C2478S	possibly damaging	Het
Fbxw7	T	A	3: 84,862,227 (GRCm39)	L186M		Het
Fn1	T	C	1: 71,644,239 (GRCm39)	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,813,453 (GRCm39)	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,681,042 (GRCm39)	V238A	probably damaging	Het
Gm9611	T	C	14: 42,116,657 (GRCm39)	D131G		Het
Gpatch8	T	C	11: 102,371,018 (GRCm39)	E840G	unknown	Het
Grm5	G	A	7: 87,453,176 (GRCm39)	R271Q	probably damaging	Het
Has3	A	T	8: 107,601,135 (GRCm39)	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Il2	T	A	3: 37,177,282 (GRCm39)	T85S	possibly damaging	Het
Kank4	T	C	4: 98,668,273 (GRCm39)	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,905,379 (GRCm39)	I154F	probably damaging	Het
Krt1c	T	C	15: 101,724,379 (GRCm39)	K295R	possibly damaging	Het
Lipm	A	T	19: 34,090,308 (GRCm39)	D163V	probably damaging	Het
Lpl	A	G	8: 69,340,215 (GRCm39)	N70S	probably damaging	Het
Mgme1	A	G	2: 144,114,451 (GRCm39)		probably benign	Het
Mnd1	T	A	3: 83,995,432 (GRCm39)	E187D	probably benign	Het
Morn5	A	G	2: 35,969,533 (GRCm39)	D149G	probably benign	Het
Mrrf	G	A	2: 36,037,965 (GRCm39)	V79I	probably damaging	Het
Msh4	T	A	3: 153,563,270 (GRCm39)	Q896L	probably benign	Het
Mtus2	A	C	5: 148,015,303 (GRCm39)	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,803,880 (GRCm39)	C130S	unknown	Het
Ntn5	A	T	7: 45,333,899 (GRCm39)	Y4F	probably benign	Het
Or7e174	T	C	9: 20,012,580 (GRCm39)	V175A	probably benign	Het
Osm	A	G	11: 4,189,839 (GRCm39)	S208G	probably benign	Het
Pcsk6	T	A	7: 65,578,891 (GRCm39)	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,390,104 (GRCm39)	E486G	probably benign	Het
Pdzk1	T	A	3: 96,758,910 (GRCm39)	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,435,155 (GRCm39)	S524T	probably benign	Het
Prkd1	T	A	12: 50,435,156 (GRCm39)	S524C	probably damaging	Het
Rab4b	T	C	7: 26,874,148 (GRCm39)	I90V		Het
Rc3h1	T	C	1: 160,795,222 (GRCm39)	V1083A	probably benign	Het
Rfx7	C	T	9: 72,524,316 (GRCm39)	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,702,558 (GRCm39)	Y332C	probably damaging	Het
Senp2	A	G	16: 21,846,789 (GRCm39)	T265A	probably benign	Het
Slc38a3	T	C	9: 107,532,345 (GRCm39)	M396V	probably benign	Het
Sord	G	A	2: 122,094,607 (GRCm39)	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,344,653 (GRCm39)		probably benign	Het
Star	G	A	8: 26,299,577 (GRCm39)	R53H	probably benign	Het
Stard4	T	G	18: 33,336,749 (GRCm39)	I189L	possibly damaging	Het
Stk38	G	T	17: 29,219,094 (GRCm39)	T7K	probably benign	Het
Stxbp5	T	A	10: 9,713,859 (GRCm39)	K227*	probably null	Het
Taf4b	C	T	18: 14,946,485 (GRCm39)	P436L	possibly damaging	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Tmem158	A	G	9: 123,089,309 (GRCm39)	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281 (GRCm39)	S77P	probably benign	Het
Ttn	A	T	2: 76,720,307 (GRCm39)	L6973*	probably null	Het
Tubal3	T	C	13: 3,983,293 (GRCm39)	F358L	probably damaging	Het
Tut4	T	C	4: 108,406,575 (GRCm39)	V1381A	possibly damaging	Het
Vmn1r214	C	T	13: 23,219,273 (GRCm39)	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,282,396 (GRCm39)	V740A	probably benign	Het
Yipf1	A	T	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zdhhc2	G	T	8: 40,898,846 (GRCm39)		probably null	Het
Zfp655	C	T	5: 145,181,290 (GRCm39)	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,622,410 (GRCm39)	T445I	possibly damaging	Het

Other mutations in Dstyk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Dstyk	APN	1	132,387,726 (GRCm39)	missense	probably damaging	1.00
IGL01753:Dstyk	APN	1	132,390,677 (GRCm39)	missense	probably damaging	1.00
IGL02156:Dstyk	APN	1	132,377,664 (GRCm39)	missense	probably benign	0.27
IGL02175:Dstyk	APN	1	132,377,129 (GRCm39)	nonsense	probably null
IGL02721:Dstyk	APN	1	132,377,054 (GRCm39)	missense	probably benign	0.03
IGL03194:Dstyk	APN	1	132,384,054 (GRCm39)	splice site	probably benign
PIT4305001:Dstyk	UTSW	1	132,383,634 (GRCm39)	nonsense	probably null
PIT4791001:Dstyk	UTSW	1	132,377,665 (GRCm39)	missense	probably benign	0.00
R0135:Dstyk	UTSW	1	132,390,672 (GRCm39)	missense	probably damaging	1.00
R0309:Dstyk	UTSW	1	132,384,602 (GRCm39)	splice site	probably benign
R0399:Dstyk	UTSW	1	132,380,818 (GRCm39)	splice site	probably benign
R0781:Dstyk	UTSW	1	132,381,063 (GRCm39)	splice site	probably benign
R1110:Dstyk	UTSW	1	132,381,063 (GRCm39)	splice site	probably benign
R1138:Dstyk	UTSW	1	132,391,224 (GRCm39)	missense	probably benign	0.00
R1300:Dstyk	UTSW	1	132,377,651 (GRCm39)	missense	probably benign	0.02
R1330:Dstyk	UTSW	1	132,377,618 (GRCm39)	missense	probably benign	0.25
R1509:Dstyk	UTSW	1	132,384,084 (GRCm39)	missense	probably damaging	1.00
R1667:Dstyk	UTSW	1	132,384,657 (GRCm39)	missense	probably damaging	1.00
R1728:Dstyk	UTSW	1	132,384,722 (GRCm39)	missense	probably damaging	1.00
R1729:Dstyk	UTSW	1	132,384,722 (GRCm39)	missense	probably damaging	1.00
R1730:Dstyk	UTSW	1	132,384,722 (GRCm39)	missense	probably damaging	1.00
R1739:Dstyk	UTSW	1	132,384,722 (GRCm39)	missense	probably damaging	1.00
R1757:Dstyk	UTSW	1	132,361,832 (GRCm39)	splice site	probably benign
R1762:Dstyk	UTSW	1	132,384,722 (GRCm39)	missense	probably damaging	1.00
R1783:Dstyk	UTSW	1	132,384,722 (GRCm39)	missense	probably damaging	1.00
R1784:Dstyk	UTSW	1	132,384,722 (GRCm39)	missense	probably damaging	1.00
R1785:Dstyk	UTSW	1	132,384,722 (GRCm39)	missense	probably damaging	1.00
R1829:Dstyk	UTSW	1	132,377,333 (GRCm39)	missense	probably benign	0.06
R2031:Dstyk	UTSW	1	132,380,929 (GRCm39)	missense	probably damaging	0.99
R2124:Dstyk	UTSW	1	132,380,857 (GRCm39)	missense	possibly damaging	0.64
R2132:Dstyk	UTSW	1	132,377,222 (GRCm39)	missense	probably null
R2143:Dstyk	UTSW	1	132,391,113 (GRCm39)	missense	probably damaging	1.00
R2144:Dstyk	UTSW	1	132,391,113 (GRCm39)	missense	probably damaging	1.00
R2145:Dstyk	UTSW	1	132,391,113 (GRCm39)	missense	probably damaging	1.00
R3804:Dstyk	UTSW	1	132,377,464 (GRCm39)	missense	probably damaging	1.00
R4277:Dstyk	UTSW	1	132,383,151 (GRCm39)	splice site	probably null
R4504:Dstyk	UTSW	1	132,362,127 (GRCm39)	missense	possibly damaging	0.81
R4674:Dstyk	UTSW	1	132,391,128 (GRCm39)	missense	probably benign	0.42
R4697:Dstyk	UTSW	1	132,377,225 (GRCm39)	missense	probably damaging	0.98
R4828:Dstyk	UTSW	1	132,361,875 (GRCm39)	missense	probably benign
R4940:Dstyk	UTSW	1	132,380,844 (GRCm39)	missense	probably damaging	0.96
R5029:Dstyk	UTSW	1	132,377,062 (GRCm39)	missense	probably benign	0.01
R5678:Dstyk	UTSW	1	132,381,029 (GRCm39)	missense	probably benign
R5900:Dstyk	UTSW	1	132,384,717 (GRCm39)	missense	probably damaging	1.00
R5935:Dstyk	UTSW	1	132,381,875 (GRCm39)	missense	probably damaging	0.99
R5973:Dstyk	UTSW	1	132,362,149 (GRCm39)	missense	probably damaging	0.99
R6217:Dstyk	UTSW	1	132,387,677 (GRCm39)	missense	probably damaging	1.00
R6381:Dstyk	UTSW	1	132,384,503 (GRCm39)	splice site	probably null
R6429:Dstyk	UTSW	1	132,377,542 (GRCm39)	nonsense	probably null
R7038:Dstyk	UTSW	1	132,381,847 (GRCm39)	missense	probably benign	0.32
R7240:Dstyk	UTSW	1	132,381,861 (GRCm39)	missense	probably benign	0.02
R7411:Dstyk	UTSW	1	132,345,404 (GRCm39)	missense	probably benign	0.01
R7714:Dstyk	UTSW	1	132,384,614 (GRCm39)	missense	possibly damaging	0.93
R9564:Dstyk	UTSW	1	132,362,023 (GRCm39)	missense	probably damaging	1.00
R9785:Dstyk	UTSW	1	132,381,038 (GRCm39)	missense	probably damaging	0.96
R9789:Dstyk	UTSW	1	132,381,859 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAAAAGTCTCCTGGAAGTGTTC -3'
(R):5'- GATAGTCTCCCAGTTGTCCTG -3'

Sequencing Primer
(F):5'- GCTCTGCCATTCAAGGTGAG -3'
(R):5'- CCCAGTTGTCCTGATGTGAAGC -3'

Posted On

2021-04-30