Mutagenetix > Incidental Mutation

Incidental Mutation 'R7496:Syk'

581092

Institutional Source

Beutler Lab

Gene Symbol

Syk

Ensembl Gene

ENSMUSG00000021457

Gene Name

spleen tyrosine kinase

Synonyms

Sykb

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7496 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52583173-52648792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52612416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 179 (Q179R)

Ref Sequence

ENSEMBL: ENSMUSP00000060828 (fasta)

Gene Model

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

AlphaFold

P48025

Predicted Effect

probably benign
Transcript: ENSMUST00000055087
AA Change: Q179R

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

SMART Domains

Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: Q179R

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

possibly damaging
Transcript: ENSMUST00000118756
AA Change: Q179R

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: Q179R

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: Q179R

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

SMART Domains

Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: Q179R

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

Meta Mutation Damage Score

0.2004

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,732,857	I626V	probably benign	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Ago1	C	T	4: 126,461,752	R88H	probably benign	Het
Ankrd6	C	T	4: 32,810,299	D461N	probably damaging	Het
Bcl2l14	A	G	6: 134,427,454	N202D	probably benign	Het
Bnip2	A	G	9: 70,003,404	I245V	probably damaging	Het
Cdhr3	T	C	12: 33,060,265	D340G	probably damaging	Het
Dchs1	T	C	7: 105,761,859	E1653G	probably damaging	Het
Dhdds	C	A	4: 133,971,254	Q256H	possibly damaging	Het
Dsc2	A	T	18: 20,035,394	C669*	probably null	Het
Dync2h1	T	C	9: 7,135,015		probably null	Het
Dysf	T	C	6: 84,067,478	S276P	probably benign	Het
Galc	A	T	12: 98,259,238	L31*	probably null	Het
Gm527	C	T	12: 64,922,410	R204C	possibly damaging	Het
Hivep3	G	A	4: 120,132,402	D2017N	probably benign	Het
Inf2	C	T	12: 112,600,318	R106C	probably damaging	Het
Itgb1	A	G	8: 128,720,305	K434E	probably benign	Het
Lamb1	A	C	12: 31,300,021	N700T	probably benign	Het
Macc1	T	G	12: 119,446,999	F501V	possibly damaging	Het
Man2a2	G	A	7: 80,352,997	H1079Y	probably damaging	Het
Nedd4l	G	A	18: 65,080,018	V82I	possibly damaging	Het
Nr2f1	T	C	13: 78,195,242	E301G	probably damaging	Het
Olfr1129	A	G	2: 87,575,371	R96G	probably damaging	Het
Olfr1246	T	C	2: 89,590,696	I140V	probably benign	Het
Olfr695	A	G	7: 106,714,228	L151P	probably benign	Het
Pdgfrb	G	A	18: 61,078,932	V844I	possibly damaging	Het
Pkd1l2	T	C	8: 117,060,594	E570G	possibly damaging	Het
R3hdm4	A	T	10: 79,916,874	L4Q	probably damaging	Het
Rb1cc1	A	G	1: 6,248,191	K639R	probably null	Het
Robo3	A	T	9: 37,427,825	C257S	probably damaging	Het
Rprd2	A	T	3: 95,765,775	L772Q	probably damaging	Het
Sall2	T	C	14: 52,315,561	D59G	possibly damaging	Het
Sall3	T	C	18: 80,973,364	T450A	probably benign	Het
Sdhd	T	C	9: 50,597,085	*160W	probably null	Het
Sgca	T	C	11: 94,971,244	E194G	possibly damaging	Het
Shtn1	G	A	19: 59,028,184	R228C	probably damaging	Het
Skor1	A	T	9: 63,146,850	S22T	probably benign	Het
Slc26a8	C	A	17: 28,644,850	G645V	probably benign	Het
Smtn	T	C	11: 3,529,988	E411G	probably damaging	Het
Sox17	A	G	1: 4,492,327	Y217H	probably damaging	Het
Tpp2	A	G	1: 43,983,517	I959M	probably benign	Het
Trim65	T	A	11: 116,126,316	N440I	probably damaging	Het
Ubr2	C	T	17: 46,990,991		probably null	Het
Ush2a	T	C	1: 188,351,087	S276P	possibly damaging	Het
Vmn1r61	A	G	7: 5,610,431	S295P	probably benign	Het
Wdhd1	T	C	14: 47,274,024	Q77R	probably benign	Het
Xylb	T	A	9: 119,391,816	*552R	probably null	Het
Zfp932	C	T	5: 110,008,828	P131S	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
R1917:Syk	UTSW	13	52622708	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
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'- GTGTTGATAGGACCTGGGAC -3'
(R):5'- CAATCTTTACGGGCAGGCTAG -3'

Sequencing Primer
(F):5'- ACAGATGGGTCTAATGTCTTTCTACC -3'
(R):5'- TCTTTACGGGCAGGCTAGATAAAAC -3'

Posted On

2019-10-17