Mutagenetix > Incidental Mutation

Incidental Mutation 'R6137:Styk1'

488397

Institutional Source

Beutler Lab

Gene Symbol

Styk1

Ensembl Gene

ENSMUSG00000032899

Gene Name

serine/threonine/tyrosine kinase 1

Synonyms

MMRRC Submission

044284-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131299142-131353597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131311016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 128 (G128D)

Ref Sequence

ENSEMBL: ENSMUSP00000044098 (fasta)

Gene Model

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

AlphaFold

Q6J9G1

Predicted Effect

probably damaging
Transcript: ENSMUST00000049150
AA Change: G128D

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

SMART Domains

Protein: ENSMUSP00000044098
Gene: ENSMUSG00000032899
AA Change: G128D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135859

Meta Mutation Damage Score

0.9349

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092M07Rik	A	T	19: 8,740,784	D6V	probably damaging	Het
2310057M21Rik	G	T	7: 131,357,613	H165Q	probably damaging	Het
Akap13	T	A	7: 75,677,416	F721Y	probably damaging	Het
Akap6	A	T	12: 53,140,354	D1517V	probably damaging	Het
Amigo3	T	A	9: 108,053,728	S117T	probably damaging	Het
Atf7ip2	T	A	16: 10,201,411	N34K	probably damaging	Het
Cacnb1	A	C	11: 98,005,782	V351G	probably damaging	Het
Casp9	T	A	4: 141,805,349		probably null	Het
Ccdc51	C	T	9: 109,089,415	T24I	probably benign	Het
Cdh23	T	A	10: 60,434,512	Y618F	probably damaging	Het
Chd1	T	A	17: 15,758,688	W1271R	probably damaging	Het
Dars	T	C	1: 128,368,439	T386A	probably benign	Het
Dchs1	T	A	7: 105,765,106	D834V	probably damaging	Het
Dgkd	T	A	1: 87,936,381	V933E	possibly damaging	Het
Dnah17	A	G	11: 118,025,654	F4203S	probably damaging	Het
Fancm	T	C	12: 65,130,382	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,008,669	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,276,222	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,559,206	S237P	probably damaging	Het
Frem3	T	C	8: 80,615,047	I1323T	probably benign	Het
Grin2a	A	G	16: 9,653,449	F652L	probably benign	Het
Grin2b	T	A	6: 135,923,458	M142L	possibly damaging	Het
Helz	A	G	11: 107,619,060	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,859,295	Y69H	probably benign	Het
Il17ra	A	G	6: 120,475,582	N242S	probably benign	Het
Immp1l	G	C	2: 105,964,208	G117A	probably damaging	Het
Itm2c	T	C	1: 85,894,692	V10A	probably benign	Het
Kif1b	T	C	4: 149,238,426	K679E	possibly damaging	Het
Kng1	T	C	16: 23,074,645	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,166,153	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,598,793	F621S	probably damaging	Het
Lpl	T	A	8: 68,892,747	D134E	probably damaging	Het
Lypd3	T	C	7: 24,640,494	Y329H	probably benign	Het
Mettl13	T	C	1: 162,535,886	D225G	probably benign	Het
Myo7b	A	G	18: 31,999,974	F441L	probably damaging	Het
Nnt	T	A	13: 119,336,328	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,191,851	M144K	probably damaging	Het
Olfr1040	A	G	2: 86,145,969	V255A	probably benign	Het
Olfr1347	T	C	7: 6,488,845	T3A	probably benign	Het
Olfr325	A	T	11: 58,581,068	M75L	probably benign	Het
Pappa2	A	T	1: 158,871,543	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,238,888	I155V	probably benign	Het
Ptgs2	T	A	1: 150,100,993	N24K	probably benign	Het
Ralgds	A	T	2: 28,547,588	M514L	probably damaging	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,569,005	V254D	probably damaging	Het
Selenot	A	T	3: 58,585,284	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,850,851	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,542,724	V10A	probably benign	Het
Spem2	G	T	11: 69,816,696	S481*	probably null	Het
Tmc6	A	T	11: 117,776,328	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,574,835		probably null	Het
Tnpo3	A	G	6: 29,555,268	V772A	probably benign	Het
Topaz1	T	C	9: 122,797,756	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,216,055	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,849,016	I129T	probably benign	Het
Wwc2	A	T	8: 47,856,263	M828K	unknown	Het
Zfp236	A	T	18: 82,671,794	S187T	possibly damaging	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
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
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'- AACTCTGCATCAAGCTTCCC -3'
(R):5'- TGCCTCTGTACCTGCATCTAGG -3'

Sequencing Primer
(F):5'- CATGTGTGCTAATAGGCTTCTTAATG -3'
(R):5'- TGTACCTGCATCTAGGGGCAG -3'

Posted On

2017-10-10