Mutagenetix > Incidental Mutations

Incidental Mutation 'R1917:Syk'

212637

Institutional Source

Beutler Lab

Gene Symbol

Syk

Ensembl Gene

ENSMUSG00000021457

Gene Name

spleen tyrosine kinase

Synonyms

Sykb

MMRRC Submission

039935-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1917 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

52583173-52648792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52622708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 248 (D248V)

Ref Sequence

ENSEMBL: ENSMUSP00000113852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055087] [ENSMUST00000118756] [ENSMUST00000120135]

AlphaFold

P48025

PDB Structure

Solution structure of the Vav1 SH2 domain complexed with a Syk-derived doubly phosphorylated peptide [SOLUTION NMR]
Solution structure of the Vav1 SH2 domain complexed with a Syk-derived singly phosphorylated peptide [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000055087
AA Change: D248V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: D248V

Domain	Start	End	E-Value	Type
SH2	12	97	4.51e-26	SMART
SH2	165	249	5.06e-29	SMART
TyrKc	365	620	7.61e-120	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118756
AA Change: D248V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: D248V

Domain	Start	End	E-Value	Type
SH2	12	97	4.51e-26	SMART
SH2	165	249	5.06e-29	SMART
TyrKc	342	582	2.68e-106	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120135
AA Change: D248V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: D248V

Domain	Start	End	E-Value	Type
SH2	12	97	4.51e-26	SMART
SH2	165	249	5.06e-29	SMART
TyrKc	365	620	7.61e-120	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140339

Meta Mutation Damage Score

0.8912

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.6%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mice have high rates of postnatal lethality, exhibit developmental defects of B cells, T cells and osteoclasts, and have defective dendritic cell cross-presentation of antigens from necrotic cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	A	G	11: 29,824,039	S473P	probably benign	Het
Abca8a	A	G	11: 110,091,515		probably benign	Het
Adgre5	A	G	8: 83,729,109	V190A	probably damaging	Het
Akap6	A	G	12: 53,104,612	N1153S	probably benign	Het
Aldh1a7	G	A	19: 20,727,455	H20Y	probably benign	Het
B430306N03Rik	A	G	17: 48,324,148	E278G	probably benign	Het
Cacna1b	C	A	2: 24,616,879	R72L	probably null	Het
Cc2d2a	C	G	5: 43,706,222	S675R	probably damaging	Het
Ccdc88b	T	A	19: 6,849,226	E1040D	probably damaging	Het
Cmtm7	A	G	9: 114,763,364	V55A	probably damaging	Het
Coq4	A	C	2: 29,789,926	T77P	probably damaging	Het
Cyp2j11	C	A	4: 96,339,974	W136L	probably damaging	Het
Dctn2	T	A	10: 127,275,049	Y86*	probably null	Het
Ddx56	A	G	11: 6,263,937		probably null	Het
Dopey2	T	C	16: 93,716,262	S30P	probably damaging	Het
Ep400	T	C	5: 110,703,575	K1347R	unknown	Het
Fat3	T	A	9: 15,997,057	T2550S	possibly damaging	Het
Fcrla	G	T	1: 170,927,526	C5*	probably null	Het
Fermt1	T	A	2: 132,922,842	D365V	probably damaging	Het
Fhod3	A	G	18: 24,989,965		probably benign	Het
Fhod3	A	G	18: 25,085,601	D807G	probably benign	Het
Fnip1	C	T	11: 54,480,684	T177I	probably damaging	Het
Gart	T	C	16: 91,628,149	Y662C	probably damaging	Het
Gda	A	T	19: 21,397,640		probably benign	Het
Gk	A	G	X: 85,760,580	I85T	probably damaging	Het
Gm12169	A	G	11: 46,528,531	D58G	possibly damaging	Het
Gm14548	C	T	7: 3,897,638	V38M	probably damaging	Het
Gm3476	A	G	14: 6,118,358	L255P	possibly damaging	Het
Gm9966	T	C	7: 95,958,477	C2R	unknown	Het
Gnpda1	T	C	18: 38,333,190		probably null	Het
Gtf2h4	G	A	17: 35,670,198	L246F	possibly damaging	Het
Hao1	A	T	2: 134,523,060	S216T	probably benign	Het
Hnrnpr	C	A	4: 136,332,488	S301*	probably null	Het
Hsd3b2	A	G	3: 98,712,026	I201T	probably benign	Het
Jade2	T	C	11: 51,818,538	E548G	possibly damaging	Het
Katnbl1	T	C	2: 112,409,179	I241T	probably benign	Het
Keap1	G	T	9: 21,233,806	Q299K	probably benign	Het
Kif1a	T	C	1: 93,019,031	I1650V	possibly damaging	Het
Lrba	G	A	3: 86,664,501	G275R	probably damaging	Het
Map3k9	C	A	12: 81,780,790	E29*	probably null	Het
Mat1a	G	A	14: 41,121,437	V307I	probably damaging	Het
Mcm2	A	T	6: 88,891,803	M324K	possibly damaging	Het
Metap1d	T	C	2: 71,511,527	V155A	probably damaging	Het
Mtbp	A	G	15: 55,564,677		probably benign	Het
Myh14	T	C	7: 44,657,925	T231A	probably benign	Het
Mylk4	A	T	13: 32,724,853	D90E	probably benign	Het
Myo15b	T	A	11: 115,882,254	I1837K	possibly damaging	Het
Myo3a	T	A	2: 22,291,922	H242Q	probably damaging	Het
Nxn	A	G	11: 76,261,672		probably benign	Het
Olfr791	T	A	10: 129,527,049	V274D	probably damaging	Het
Pak3	C	A	X: 143,791,302	A553E	possibly damaging	Het
Pdia2	T	A	17: 26,198,105	T122S	possibly damaging	Het
Plod2	A	G	9: 92,581,257	T132A	probably benign	Het
Ptprz1	T	A	6: 23,035,040		probably benign	Het
Rad54b	A	C	4: 11,601,693	N416T	probably damaging	Het
Recql4	A	T	15: 76,703,837	Y1142*	probably null	Het
Rnf216	A	G	5: 142,992,806	V859A	probably benign	Het
Scnm1	G	T	3: 95,130,273	P161T	possibly damaging	Het
Serpinb6b	A	G	13: 32,978,240	I222V	probably benign	Het
Serpinf1	A	G	11: 75,411,007	I274T	possibly damaging	Het
Slc28a1	T	C	7: 81,169,586	F641L	probably benign	Het
Slc8a2	A	G	7: 16,152,920	I657V	probably benign	Het
Smchd1	A	G	17: 71,407,237	I877T	possibly damaging	Het
Spata31	T	C	13: 64,920,865	Y276H	possibly damaging	Het
Spire2	A	G	8: 123,363,071	D447G	probably benign	Het
Stk3	G	A	15: 35,073,217	T119I	probably damaging	Het
Stxbp5	C	A	10: 9,812,298	V420F	possibly damaging	Het
Sult2a5	T	C	7: 13,670,684	F282S	probably damaging	Het
Thoc6	C	T	17: 23,669,390		probably benign	Het
Tll2	T	A	19: 41,128,497	D293V	possibly damaging	Het
Umodl1	G	A	17: 30,984,043	V457M	probably damaging	Het
Usp19	T	A	9: 108,499,325	C689*	probably null	Het
Usp24	T	G	4: 106,410,286	V1955G	probably damaging	Het
Vmn1r226	T	C	17: 20,687,580	S25P	probably damaging	Het
Vmn2r69	C	T	7: 85,411,683	C231Y	probably damaging	Het
Wdr73	C	T	7: 80,893,333	D176N	probably benign	Het
Wnt7b	T	A	15: 85,559,080	I41F	probably damaging	Het
Zfhx3	T	C	8: 108,956,248	S3440P	unknown	Het
Zfp52	T	G	17: 21,560,164	N91K	probably benign	Het
Zfp930	C	A	8: 69,228,705	Q350K	probably benign	Het
Zfp949	T	C	9: 88,570,062	S562P	probably damaging	Het

Other mutations in Syk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01478:Syk	APN	13	52624748	missense	probably benign	0.00
IGL01522:Syk	APN	13	52643061	missense	probably benign
IGL01957:Syk	APN	13	52631740	missense	probably benign
IGL01962:Syk	APN	13	52610957	missense	probably damaging	1.00
IGL02613:Syk	APN	13	52643040	missense	probably damaging	0.97
IGL02824:Syk	APN	13	52623283	splice site	probably benign
IGL03130:Syk	APN	13	52622732	missense	probably benign	0.12
Apricot	UTSW	13	52640733	missense	probably damaging	1.00
Poppy	UTSW	13	52640733	missense	probably damaging	1.00
Sisyphus	UTSW	13	52640790	missense	probably damaging	1.00
H8562:Syk	UTSW	13	52640621	missense	probably damaging	1.00
R0091:Syk	UTSW	13	52640733	missense	probably damaging	1.00
R0346:Syk	UTSW	13	52640659	missense	probably damaging	1.00
R1888:Syk	UTSW	13	52640790	missense	probably damaging	1.00
R1888:Syk	UTSW	13	52640790	missense	probably damaging	1.00
R2001:Syk	UTSW	13	52611238	missense	probably benign	0.21
R2919:Syk	UTSW	13	52611121	missense	probably benign
R3413:Syk	UTSW	13	52631739	missense	probably benign
R3695:Syk	UTSW	13	52622765	splice site	probably null
R4363:Syk	UTSW	13	52640730	missense	probably damaging	1.00
R4754:Syk	UTSW	13	52612259	intron	probably benign
R4755:Syk	UTSW	13	52641986	missense	probably benign	0.25
R4806:Syk	UTSW	13	52632927	missense	probably benign	0.14
R4817:Syk	UTSW	13	52611206	missense	probably benign	0.03
R4903:Syk	UTSW	13	52611081	missense	probably damaging	1.00
R4997:Syk	UTSW	13	52612448	nonsense	probably null
R5066:Syk	UTSW	13	52641982	missense	possibly damaging	0.49
R5114:Syk	UTSW	13	52611035	missense	probably damaging	1.00
R5267:Syk	UTSW	13	52641926	missense	probably benign	0.05
R5323:Syk	UTSW	13	52631717	missense	probably benign	0.00
R5705:Syk	UTSW	13	52611047	missense	probably benign	0.03
R6190:Syk	UTSW	13	52611053	missense	probably damaging	0.97
R6892:Syk	UTSW	13	52632898	missense	probably benign	0.00
R6932:Syk	UTSW	13	52612459	splice site	probably null
R6977:Syk	UTSW	13	52633058	missense	probably benign	0.00
R7496:Syk	UTSW	13	52612416	missense	probably benign
R7650:Syk	UTSW	13	52611095	missense	probably benign	0.24
R8081:Syk	UTSW	13	52638159	missense	probably benign	0.00
R8199:Syk	UTSW	13	52624732	missense	probably benign	0.00
R8350:Syk	UTSW	13	52620899	missense	probably damaging	1.00
R8381:Syk	UTSW	13	52633049	missense	probably benign	0.08
R8420:Syk	UTSW	13	52624727	missense	probably benign	0.02
R8450:Syk	UTSW	13	52620899	missense	probably damaging	1.00
R9177:Syk	UTSW	13	52612444	missense	probably benign	0.37
Z1177:Syk	UTSW	13	52632913	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTTGACTCTATCCAAGGACATCTTTG -3'
(R):5'- TTTTCACACATTCCACCAAGTAAGC -3'

Sequencing Primer
(F):5'- GGACATCTTTGGCCCATCC -3'
(R):5'- CTGAAGATATGTGCCAACATCCTGG -3'

Posted On

2014-07-14