Mutagenetix > Incidental Mutation

Incidental Mutation 'R2001:Syk'

225963

Institutional Source

Beutler Lab

Gene Symbol

Syk

Ensembl Gene

ENSMUSG00000021457

Gene Name

spleen tyrosine kinase

Synonyms

Sykb

MMRRC Submission

040011-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52583173-52648792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52611238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 134 (T134A)

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 benign
Transcript: ENSMUST00000055087
AA Change: T134A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: T134A

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 benign
Transcript: ENSMUST00000118756
AA Change: T134A

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: T134A

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 benign
Transcript: ENSMUST00000120135
AA Change: T134A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: T134A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150672

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,741,456	S559P	probably benign	Het
A430005L14Rik	T	A	4: 153,959,857	C42S	probably damaging	Het
Abca13	A	T	11: 9,273,967	T449S	probably benign	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Adamts13	C	T	2: 26,973,990	P60L	probably benign	Het
Adamts20	T	C	15: 94,347,718	T568A	possibly damaging	Het
Ago1	T	C	4: 126,454,394	I44V	probably null	Het
Agtpbp1	TGAAGATGCATCTTGAGAAGA	TGAAGA	13: 59,475,803		probably null	Het
Ankrd28	A	T	14: 31,745,336	V39E	possibly damaging	Het
Apaf1	A	G	10: 91,061,814	V269A	possibly damaging	Het
Asna1	T	C	8: 85,025,160	S36G	probably damaging	Het
Astn1	A	G	1: 158,520,521	N506D	probably damaging	Het
BC051019	G	A	7: 109,720,551	Q102*	probably null	Het
Bpifb5	A	G	2: 154,233,279	T376A	possibly damaging	Het
Ccdc121	G	T	1: 181,510,986	Q134K	probably benign	Het
Ccl20	ATT	ATTT	1: 83,117,855		probably null	Het
Ccl6	G	T	11: 83,589,337	P68T	possibly damaging	Het
Cd300ld	A	T	11: 114,987,330	F119I	probably benign	Het
Cdk2ap2	A	G	19: 4,097,903	M57V	possibly damaging	Het
Chkb	C	T	15: 89,428,766	G36E	probably damaging	Het
Col11a1	A	G	3: 114,165,293		probably null	Het
Ctla2b	T	C	13: 60,896,067	Y120C	probably damaging	Het
Ctnnd1	T	C	2: 84,620,360	N172S	probably benign	Het
Cyp2a22	G	A	7: 26,934,772	P319L	probably damaging	Het
Dcaf12	A	C	4: 41,302,804	V117G	probably damaging	Het
Ddx6	A	G	9: 44,607,534	T48A	probably benign	Het
Dgki	T	C	6: 36,865,801	D923G	possibly damaging	Het
Dhx37	G	T	5: 125,427,464	T345K	probably damaging	Het
Dhx9	A	T	1: 153,456,111	Y1370*	probably null	Het
Dnah7b	T	C	1: 46,142,087	S1045P	possibly damaging	Het
Dnmbp	G	C	19: 43,850,173	T1071S	possibly damaging	Het
Dspp	T	A	5: 104,178,559	S929R	unknown	Het
Dst	A	T	1: 34,184,063	E1625D	probably damaging	Het
Egflam	T	A	15: 7,242,567	H630L	probably benign	Het
Elane	T	C	10: 79,887,759	V186A	possibly damaging	Het
Fam209	C	A	2: 172,472,769	N59K	probably benign	Het
Gbe1	A	G	16: 70,528,926	E617G	probably damaging	Het
Gfra1	A	G	19: 58,300,275	L246P	probably damaging	Het
Gm14139	T	A	2: 150,192,947	M396K	probably benign	Het
Gria2	T	C	3: 80,710,805	T308A	probably benign	Het
Grip2	A	T	6: 91,779,850	V540D	probably benign	Het
Hhipl1	A	T	12: 108,321,859	I575F	possibly damaging	Het
Hmcn1	T	A	1: 150,738,613	E1347D	possibly damaging	Het
Itga2b	C	A	11: 102,467,339	A187S	probably benign	Het
Kalrn	C	A	16: 34,028,045	R469M	probably damaging	Het
Kif23	A	T	9: 61,927,384	C426*	probably null	Het
Lck	T	C	4: 129,548,937	N475S	probably benign	Het
Leng8	A	G	7: 4,145,074	N642S	probably damaging	Het
Lingo4	T	A	3: 94,403,075	I440N	probably damaging	Het
Lrrc4	A	G	6: 28,830,905	F237S	probably damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Naip2	A	T	13: 100,144,588	I1316N	probably damaging	Het
Naip6	C	T	13: 100,300,729	G429S	probably benign	Het
Noct	C	T	3: 51,248,044	R78C	probably damaging	Het
Npbwr1	A	G	1: 5,917,175	V40A	possibly damaging	Het
Nsd2	A	G	5: 33,843,402	N88D	probably damaging	Het
Olfr1020	T	A	2: 85,850,400	V316E	probably benign	Het
Olfr1066	T	C	2: 86,455,473	H266R	probably benign	Het
Olfr389	T	A	11: 73,776,713	I205F	probably benign	Het
Olfr800	T	A	10: 129,660,421	I205N	probably benign	Het
Pak7	T	A	2: 136,116,637	H177L	probably benign	Het
Pard3	C	T	8: 127,064,347		probably null	Het
Pde4c	A	G	8: 70,747,358		probably null	Het
Pde6h	T	A	6: 136,963,205	I63N	probably damaging	Het
Phldb2	T	C	16: 45,774,195	K916E	possibly damaging	Het
Ppig	T	C	2: 69,741,644	S236P	unknown	Het
Ptprd	T	C	4: 75,954,122	Y1370C	probably damaging	Het
Pzp	T	C	6: 128,516,120	T352A	probably benign	Het
Rab3gap1	A	G	1: 127,903,719	Y177C	possibly damaging	Het
Rasgef1a	G	A	6: 118,089,196	V457M	probably benign	Het
Scel	A	T	14: 103,610,790	T616S	possibly damaging	Het
Sel1l	A	T	12: 91,826,550	Y228*	probably null	Het
Sgms1	A	G	19: 32,159,683	V161A	possibly damaging	Het
Slfnl1	T	C	4: 120,533,227	L25P	probably benign	Het
Smad5	A	G	13: 56,737,374	T432A	probably damaging	Het
Sohlh2	T	C	3: 55,192,341		probably null	Het
Sphkap	A	T	1: 83,276,662	M835K	probably damaging	Het
Sqor	A	C	2: 122,798,098	T174P	probably damaging	Het
Stkld1	T	C	2: 26,952,747	V577A	probably damaging	Het
Sulf2	T	A	2: 166,080,853	E652D	probably benign	Het
Sycp2	T	A	2: 178,378,055	Q556L	probably benign	Het
Tas2r122	T	A	6: 132,711,622	I103F	possibly damaging	Het
Tex10	A	G	4: 48,451,940	W729R	probably damaging	Het
Tex261	G	T	6: 83,773,731	P95T	probably damaging	Het
Tm2d2	T	C	8: 25,017,507	S47P	probably benign	Het
Tmem2	A	G	19: 21,801,987	D387G	probably benign	Het
Tmem95	A	G	11: 69,876,991	S128P	probably damaging	Het
Tnxb	G	A	17: 34,692,579	A1619T	possibly damaging	Het
Trappc9	A	G	15: 73,058,036	I157T	probably damaging	Het
Unc13c	T	A	9: 73,483,615		probably null	Het
Upb1	A	T	10: 75,429,969	Y210F	probably damaging	Het
Urb1	T	C	16: 90,762,344	M1684V	probably benign	Het
Wnk2	G	A	13: 49,078,682	P727S	possibly damaging	Het
Zfp551	A	T	7: 12,416,349	S378T	probably damaging	Het
Zfp598	T	C	17: 24,669,924	V56A	possibly damaging	Het
Zfp945	C	T	17: 22,857,249		probably null	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
R1917:Syk	UTSW	13	52622708	missense	probably damaging	1.00
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
R9689:Syk	UTSW	13	52624772	missense	probably benign
Z1177:Syk	UTSW	13	52632913	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGGGAACTTAATGGCACCTACG -3'
(R):5'- TCCTTCGTGGTGAAAGGAGG -3'

Sequencing Primer
(F):5'- ACCTACGCCATCTCCGG -3'
(R):5'- CAGAGAGGATGTGAGGACTCC -3'

Posted On

2014-08-25