Mutagenetix > Incidental Mutation

Incidental Mutation 'R9751:Styk1'

732512

Institutional Source

Beutler Lab

Gene Symbol

Styk1

Ensembl Gene

ENSMUSG00000032899

Gene Name

serine/threonine/tyrosine kinase 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R9751 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

131299142-131353597 bp(-) (GRCm38)

Type of Mutation

small deletion (4 aa in frame mutation)

DNA Base Change (assembly)

CTCTTCATGATTTTCTT to CTCTT at 131301649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049150] [ENSMUST00000121078]

AlphaFold

Q6J9G1

Predicted Effect

probably benign
Transcript: ENSMUST00000049150

SMART Domains

Protein: ENSMUSP00000044098
Gene: ENSMUSG00000032899

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:Pkinase	119	387	3.2e-31	PFAM
Pfam:Pkinase_Tyr	119	387	1.8e-59	PFAM
low complexity region	399	410	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121078

SMART Domains

Protein: ENSMUSP00000112900
Gene: ENSMUSG00000032899

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:Pkinase_Tyr	67	298	2.5e-53	PFAM
Pfam:Pkinase	68	298	5.7e-29	PFAM
low complexity region	310	321	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,011,740	I54M		Het
Abca4	A	G	3: 122,087,477	N514D	probably benign	Het
Adgre1	G	A	17: 57,450,101	R786H	probably null	Het
Ankrd7	G	A	6: 18,868,025	V97I	probably damaging	Het
Bmper	C	T	9: 23,406,713	P543S	possibly damaging	Het
Brwd1	A	T	16: 95,993,815	M2233K	possibly damaging	Het
C1s2	G	T	6: 124,625,594	P553T	probably damaging	Het
Cachd1	G	A	4: 100,966,241	V497I	possibly damaging	Het
Cacng4	A	G	11: 107,735,193	S191P	probably damaging	Het
Cd109	C	A	9: 78,698,160	T1015K	probably damaging	Het
Clstn2	A	G	9: 97,457,650	L756P	probably damaging	Het
Crybg3	A	T	16: 59,557,524	D1122E	possibly damaging	Het
Csf2	A	T	11: 54,249,594	L6*	probably null	Het
Csnk1g2	T	A	10: 80,637,911	Y71N	possibly damaging	Het
Dlg2	C	A	7: 90,915,523	H116N	probably benign	Het
Dnah14	C	T	1: 181,792,045	S3978L	probably damaging	Het
Dpp8	C	T	9: 65,053,171	T328I	probably null	Het
Dysf	T	C	6: 84,186,468	V1625A	probably damaging	Het
Egf	C	A	3: 129,754,889	V26F	probably damaging	Het
Fam126a	C	T	5: 23,991,750	E47K	probably benign	Het
Fam20a	T	A	11: 109,675,166	Y414F	probably damaging	Het
Fsip2	T	C	2: 82,987,897	I4658T	probably benign	Het
Gm11639	G	A	11: 104,893,085	G2754E	probably benign	Het
Gm21319	T	C	12: 87,773,756	N11S	possibly damaging	Het
Igflr1	A	T	7: 30,567,228	Q167L	possibly damaging	Het
Krt79	T	G	15: 101,930,761	E424D	probably benign	Het
Map3k6	A	G	4: 133,251,857		probably null	Het
Mcpt4	A	G	14: 56,060,054	I215T	probably damaging	Het
Med13	T	C	11: 86,299,158	Y975C	probably damaging	Het
Meioc	T	A	11: 102,675,593	Y678*	probably null	Het
Myof	T	C	19: 37,936,370	T1190A	probably benign	Het
Nap1l4	A	C	7: 143,534,395		probably benign	Het
Ncapg	T	C	5: 45,693,853	V796A	probably damaging	Het
Olfr1167	T	A	2: 88,149,270	I250L	probably benign	Het
Olfr1168	T	A	2: 88,184,916	V13E	possibly damaging	Het
Olfr1224-ps1	C	T	2: 89,156,438	V246M	possibly damaging	Het
Olfr1257	C	T	2: 89,881,612	T262I	probably benign	Het
Olfr493	T	C	7: 108,346,438	Y181C	probably benign	Het
Paxbp1	A	G	16: 91,027,300	S515P	probably benign	Het
Plce1	C	T	19: 38,728,970	S1401F	probably damaging	Het
Rptor	A	G	11: 119,887,138	K1043E	probably benign	Het
Rtn4rl2	T	G	2: 84,880,695	N75T	probably damaging	Het
Slc35f4	A	G	14: 49,298,834	I448T	possibly damaging	Het
Tas2r115	A	G	6: 132,737,955	I11T	possibly damaging	Het
Tbc1d5	A	G	17: 50,874,652	V351A	possibly damaging	Het
Tmem55b	A	G	14: 50,927,979	V257A	probably benign	Het
Trim43b	A	T	9: 89,089,517	D195E	probably benign	Het
Trim65	C	A	11: 116,130,738	A90S	probably benign	Het
Trip11	C	T	12: 101,884,506	V1100I	possibly damaging	Het
Tyrp1	A	G	4: 80,840,775	E295G	probably null	Het
Ube2g2	G	A	10: 77,644,473	V138I	probably benign	Het
Wdr60	T	A	12: 116,241,783		probably null	Het

Other mutations in Styk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Styk1	APN	6	131301662	missense	possibly damaging	0.75
IGL01370:Styk1	APN	6	131301652	missense	probably damaging	1.00
IGL01833:Styk1	APN	6	131302366	splice site	probably benign
IGL02705:Styk1	APN	6	131312583	missense	probably benign	0.02
IGL03029:Styk1	APN	6	131300560	missense	probably benign	0.27
conviction	UTSW	6	131312576	missense	probably benign	0.01
will	UTSW	6	131312917	critical splice donor site	probably null
R0201:Styk1	UTSW	6	131301730	splice site	probably benign
R2267:Styk1	UTSW	6	131312576	missense	probably benign	0.01
R2268:Styk1	UTSW	6	131312576	missense	probably benign	0.01
R2269:Styk1	UTSW	6	131312576	missense	probably benign	0.01
R2919:Styk1	UTSW	6	131313004	start gained	probably benign
R3153:Styk1	UTSW	6	131310012	nonsense	probably null
R3154:Styk1	UTSW	6	131310012	nonsense	probably null
R4041:Styk1	UTSW	6	131312917	critical splice donor site	probably null
R4650:Styk1	UTSW	6	131300569	missense	probably damaging	1.00
R4739:Styk1	UTSW	6	131300466	missense	probably damaging	1.00
R5079:Styk1	UTSW	6	131301713	missense	probably damaging	1.00
R5497:Styk1	UTSW	6	131304707	missense	probably damaging	0.97
R5637:Styk1	UTSW	6	131300418	missense	possibly damaging	0.82
R6137:Styk1	UTSW	6	131311016	missense	probably damaging	1.00
R6429:Styk1	UTSW	6	131310064	missense	possibly damaging	0.93
R7522:Styk1	UTSW	6	131312840	splice site	probably null
R8188:Styk1	UTSW	6	131304885	missense	probably benign	0.43
R9255:Styk1	UTSW	6	131309983	missense	probably damaging	1.00
R9704:Styk1	UTSW	6	131301649	small deletion	probably benign
R9705:Styk1	UTSW	6	131301649	small deletion	probably benign
R9712:Styk1	UTSW	6	131301649	small deletion	probably benign
R9714:Styk1	UTSW	6	131301649	small deletion	probably benign
R9715:Styk1	UTSW	6	131301649	small deletion	probably benign
R9725:Styk1	UTSW	6	131301647	small deletion	probably benign
R9725:Styk1	UTSW	6	131301649	small deletion	probably benign
R9750:Styk1	UTSW	6	131301649	small deletion	probably benign
R9752:Styk1	UTSW	6	131301649	small deletion	probably benign
R9753:Styk1	UTSW	6	131301649	small deletion	probably benign
R9771:Styk1	UTSW	6	131301649	small deletion	probably benign
R9778:Styk1	UTSW	6	131311029	nonsense	probably null
X0021:Styk1	UTSW	6	131307069	critical splice donor site	probably null
X0026:Styk1	UTSW	6	131310939	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCATGTGAACAAACTAAGTGCTC -3'
(R):5'- CCCATGGTTATGCTTTAGAGGC -3'

Sequencing Primer
(F):5'- CTGCACCATAATGGAACTGTG -3'
(R):5'- AGAGGCTGCTTTTCAGGTCACAG -3'

Posted On

2022-11-14