Mutagenetix > Incidental Mutation

Incidental Mutation 'R9789:Dstyk'

734487

Institutional Source

Beutler Lab

Gene Symbol

Dstyk

Ensembl Gene

ENSMUSG00000042046

Gene Name

dual serine/threonine and tyrosine protein kinase

Synonyms

A930019K20Rik, C430014H23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R9789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132345293-132394696 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132381859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 538 (M538L)

Ref Sequence

ENSEMBL: ENSMUSP00000035358 (fasta)

Gene Model

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

AlphaFold

Q6XUX1

Predicted Effect

probably benign
Transcript: ENSMUST00000045110
AA Change: M538L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: M538L

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: M538L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
AA Change: M538L

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,231,357 (GRCm39)	S1038R	probably benign	Het
Aar2	T	C	2: 156,392,745 (GRCm39)	F45L	probably damaging	Het
Abcg2	A	G	6: 58,641,533 (GRCm39)	Y122C	probably damaging	Het
Arfgef1	A	T	1: 10,243,427 (GRCm39)	W1041R	probably damaging	Het
Ash1l	A	G	3: 88,873,373 (GRCm39)	N52S	probably benign	Het
Asrgl1	T	A	19: 9,093,974 (GRCm39)	T185S	probably damaging	Het
Astl	T	A	2: 127,192,146 (GRCm39)	S234T	probably damaging	Het
Atp5mf	T	C	5: 145,120,656 (GRCm39)	Y87C	probably damaging	Het
Atxn7l1	A	T	12: 33,396,062 (GRCm39)	R264W	probably damaging	Het
Axin2	T	C	11: 108,840,180 (GRCm39)	Y828H	probably damaging	Het
Bnipl	T	C	3: 95,153,140 (GRCm39)	D145G	possibly damaging	Het
C8b	A	T	4: 104,640,191 (GRCm39)	M165L	probably benign	Het
Cd109	T	C	9: 78,541,944 (GRCm39)	L87P	possibly damaging	Het
Cdk17	C	T	10: 93,060,891 (GRCm39)	P232S	probably damaging	Het
Cnot1	T	C	8: 96,455,772 (GRCm39)	E1995G	probably damaging	Het
Csf2rb2	G	A	15: 78,169,196 (GRCm39)	A653V	probably benign	Het
Cutc	A	G	19: 43,756,699 (GRCm39)	N264D	probably benign	Het
Cxcr4	C	T	1: 128,516,884 (GRCm39)	W259*	probably null	Het
Dnah8	T	C	17: 30,980,104 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,367,937 (GRCm39)	I652T	probably benign	Het
Eppk1	T	A	15: 75,993,219 (GRCm39)	I1221F	probably benign	Het
Ern2	T	A	7: 121,769,485 (GRCm39)	Y847F	probably damaging	Het
Exosc7	T	A	9: 122,959,990 (GRCm39)	V197D	probably damaging	Het
Gabra1	T	C	11: 42,024,352 (GRCm39)	Y441C	probably damaging	Het
Garem1	G	A	18: 21,262,985 (GRCm39)	P610S	possibly damaging	Het
Garem2	T	A	5: 30,319,330 (GRCm39)	V264E	probably damaging	Het
Gata2	G	A	6: 88,177,272 (GRCm39)	G101S	probably benign	Het
Gcnt4	A	G	13: 97,083,429 (GRCm39)	T242A	probably benign	Het
Ghitm	A	C	14: 36,852,719 (GRCm39)	Y120*	probably null	Het
Gimap7	A	G	6: 48,700,470 (GRCm39)	S19G	probably damaging	Het
Gm5475	G	A	15: 100,324,881 (GRCm39)	G103E	unknown	Het
Gstcd	A	T	3: 132,790,357 (GRCm39)	C137S	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Hfm1	T	C	5: 107,065,346 (GRCm39)	D111G	probably benign	Het
Ighg2b	A	G	12: 113,270,304 (GRCm39)	I238T		Het
Il2ra	A	C	2: 11,685,161 (GRCm39)	M166L	probably benign	Het
Itga1	A	T	13: 115,171,820 (GRCm39)	L95*	probably null	Het
Itpr3	A	G	17: 27,308,915 (GRCm39)	T373A	probably benign	Het
Klhl28	A	G	12: 64,996,871 (GRCm39)	V490A	probably damaging	Het
Kntc1	A	T	5: 123,898,706 (GRCm39)	N200I	possibly damaging	Het
L3mbtl4	A	G	17: 68,766,794 (GRCm39)	K167R	probably benign	Het
Lgals1	A	T	15: 78,813,930 (GRCm39)	T63S	probably benign	Het
Lnpep	C	A	17: 17,795,596 (GRCm39)	C305F	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mcmbp	A	G	7: 128,311,583 (GRCm39)	I310T	possibly damaging	Het
Mical2	G	A	7: 111,945,996 (GRCm39)	R986H	probably damaging	Het
Muc5b	A	T	7: 141,415,330 (GRCm39)	S2759C	possibly damaging	Het
Myh7	A	G	14: 55,229,384 (GRCm39)	V138A	possibly damaging	Het
Ncr1	T	G	7: 4,344,300 (GRCm39)		probably null	Het
Ndufa10	A	T	1: 92,397,610 (GRCm39)	D145E	possibly damaging	Het
Neo1	T	A	9: 58,801,307 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,701 (GRCm39)	S941T	probably benign	Het
Nrm	T	A	17: 36,172,411 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,907,227 (GRCm39)	V1018A	possibly damaging	Het
Odf1	A	G	15: 38,219,716 (GRCm39)	I15V	probably benign	Het
Or10al2	T	A	17: 37,983,059 (GRCm39)	N48K	probably damaging	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or1e1c	A	T	11: 73,265,710 (GRCm39)	N48I	probably damaging	Het
Or4b1d	T	A	2: 89,969,004 (GRCm39)	T160S	probably benign	Het
Or52e18	A	T	7: 104,609,657 (GRCm39)	I94N	probably damaging	Het
Or5m10	C	T	2: 85,717,338 (GRCm39)	H65Y	probably damaging	Het
Or5p66	A	T	7: 107,885,898 (GRCm39)	V145D	probably benign	Het
Or7g32	C	A	9: 19,389,382 (GRCm39)	D55Y	probably benign	Het
Osgin2	A	T	4: 15,998,957 (GRCm39)	Y222N	probably damaging	Het
Pcdhga10	T	C	18: 37,882,363 (GRCm39)	V708A	probably benign	Het
Pfn3	T	C	13: 55,562,900 (GRCm39)	D27G	possibly damaging	Het
Plch2	A	G	4: 155,095,322 (GRCm39)		probably null	Het
Plin2	C	A	4: 86,576,914 (GRCm39)	Q270H	probably damaging	Het
Polk	A	G	13: 96,630,403 (GRCm39)	F386S	probably damaging	Het
Prkar1a	G	A	11: 109,556,778 (GRCm39)	G286E	probably damaging	Het
Prodh	A	T	16: 17,898,049 (GRCm39)	L276Q	probably damaging	Het
Ranbp10	T	C	8: 106,513,306 (GRCm39)	N202S	probably damaging	Het
Rapgef6	C	A	11: 54,540,097 (GRCm39)	T724K	probably benign	Het
Rnf144a	T	A	12: 26,377,574 (GRCm39)	K56N	probably benign	Het
Rpa1	T	A	11: 75,203,938 (GRCm39)	K303I	probably damaging	Het
Slc16a9	A	C	10: 70,118,340 (GRCm39)	N220H	possibly damaging	Het
Slc28a3	T	C	13: 58,724,664 (GRCm39)	I197V	probably benign	Het
Slc35d1	A	T	4: 103,071,946 (GRCm39)	F19I		Het
Sohlh2	A	T	3: 55,099,721 (GRCm39)	E164D	probably damaging	Het
Sord	A	T	2: 122,093,765 (GRCm39)	K295*	probably null	Het
Spata31d1b	A	G	13: 59,860,196 (GRCm39)	Y23C	probably benign	Het
Stard9	T	A	2: 120,510,417 (GRCm39)	Y333N	probably damaging	Het
Tas2r107	A	G	6: 131,636,753 (GRCm39)	F99L	probably damaging	Het
Thap12	C	T	7: 98,352,592 (GRCm39)		probably benign	Het
Tmprss9	A	T	10: 80,730,993 (GRCm39)	T840S	probably benign	Het
Trim16	T	A	11: 62,720,026 (GRCm39)		probably null	Het
Ttc16	C	T	2: 32,664,805 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Unc80	A	T	1: 66,651,371 (GRCm39)	Y1572F	possibly damaging	Het
Usp42	G	T	5: 143,706,060 (GRCm39)	A320D	possibly damaging	Het
Vmn2r94	T	C	17: 18,464,038 (GRCm39)	T751A	probably damaging	Het
Zbtb41	C	T	1: 139,368,084 (GRCm39)	L591F	probably damaging	Het
Zdhhc5	T	A	2: 84,524,662 (GRCm39)	E219D	probably damaging	Het
Zfp248	A	T	6: 118,406,012 (GRCm39)	F526I	probably damaging	Het
Zfp322a	T	C	13: 23,540,558 (GRCm39)	K395E	possibly damaging	Het
Zfp423	G	A	8: 88,506,877 (GRCm39)	P1156S	probably benign	Het
Zfp644	T	C	5: 106,786,131 (GRCm39)	T139A	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
R8805:Dstyk	UTSW	1	132,361,963 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CTTTGTTTGGGCAAGCAGAAGG -3'
(R):5'- GGTGTTTAACAGAATTCTCTCAGAG -3'

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

Posted On

2022-11-14