Mutagenetix > Incidental Mutation

Incidental Mutation 'R5114:Syk'

394110

Institutional Source

Beutler Lab

Gene Symbol

Syk

Ensembl Gene

ENSMUSG00000021457

Gene Name

spleen tyrosine kinase

Synonyms

Sykb

MMRRC Submission

042702-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5114 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52737209-52802828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52765071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 66 (E66G)

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: E66G

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

SMART Domains

Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: E66G

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: E66G

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

SMART Domains

Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: E66G

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: E66G

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

SMART Domains

Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: E66G

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

Meta Mutation Damage Score

0.5029

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (93/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	A	9: 120,406,693 (GRCm39)		probably benign	Het
Ada	G	A	2: 163,572,406 (GRCm39)	R225C	probably benign	Het
Adamts9	T	C	6: 92,867,254 (GRCm39)	K625R	probably benign	Het
Ano1	T	C	7: 144,210,820 (GRCm39)	I182V	possibly damaging	Het
Aoc1l2	A	T	6: 48,908,292 (GRCm39)	M431L	probably benign	Het
Aox4	T	C	1: 58,285,445 (GRCm39)	V643A	possibly damaging	Het
Arcn1	T	C	9: 44,671,441 (GRCm39)	I29V	probably benign	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Asb10	A	T	5: 24,745,740 (GRCm39)	L62Q	probably damaging	Het
Atp23	T	A	10: 126,723,403 (GRCm39)	H233L	possibly damaging	Het
Bglap2	C	T	3: 88,289,432 (GRCm39)		probably benign	Het
Carnmt1	T	C	19: 18,655,098 (GRCm39)	S84P	probably damaging	Het
Ccdc152	A	G	15: 3,312,319 (GRCm39)	I180T	probably damaging	Het
Cdr2l	T	C	11: 115,284,186 (GRCm39)	F174S	probably damaging	Het
Celsr2	C	T	3: 108,301,312 (GRCm39)	V2695I	probably benign	Het
Chd1	C	A	17: 15,948,460 (GRCm39)	S127R	probably benign	Het
Chmp4c	T	A	3: 10,450,646 (GRCm39)	F75L	probably benign	Het
Col13a1	A	C	10: 61,725,880 (GRCm39)	V260G	possibly damaging	Het
Col5a1	A	G	2: 27,915,664 (GRCm39)	N183D	probably damaging	Het
Cpn1	C	T	19: 43,974,634 (GRCm39)	V32M	probably damaging	Het
Cxcl1	A	G	5: 91,039,373 (GRCm39)	M39V	probably benign	Het
Dpep2	T	A	8: 106,712,825 (GRCm39)	D455V	probably damaging	Het
Dpp7	G	A	2: 25,242,749 (GRCm39)	T441I	possibly damaging	Het
Dst	C	A	1: 34,241,640 (GRCm39)	H4001N	probably damaging	Het
Epg5	G	A	18: 78,038,828 (GRCm39)	A1519T	probably benign	Het
Esrp2	C	T	8: 106,858,820 (GRCm39)	V606I	probably benign	Het
Fbxo40	T	C	16: 36,789,236 (GRCm39)	K625E	probably damaging	Het
Gbp2b	A	T	3: 142,303,946 (GRCm39)	I14F	probably damaging	Het
Gpr37l1	G	T	1: 135,094,676 (GRCm39)	F189L	probably damaging	Het
Heatr5a	G	A	12: 52,003,020 (GRCm39)	Q161*	probably null	Het
Hspa4l	T	C	3: 40,700,197 (GRCm39)	Y30H	possibly damaging	Het
Hspg2	G	A	4: 137,239,237 (GRCm39)	C388Y	probably damaging	Het
Kcna1	A	G	6: 126,619,330 (GRCm39)	I330T	probably damaging	Het
Klhl3	T	A	13: 58,166,781 (GRCm39)	Y350F	probably benign	Het
Kntc1	T	C	5: 123,919,118 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,520 (GRCm39)	C109*	probably null	Het
Lrch4	T	C	5: 137,636,179 (GRCm39)	S377P	probably benign	Het
Lrrc8c	C	A	5: 105,755,349 (GRCm39)	H375N	probably damaging	Het
Lsg1	T	C	16: 30,380,538 (GRCm39)	E633G	probably damaging	Het
Mcoln1	T	C	8: 3,560,697 (GRCm39)		probably benign	Het
Med12l	C	A	3: 59,167,109 (GRCm39)	T1523K	possibly damaging	Het
Mrps27	A	T	13: 99,547,973 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,780,717 (GRCm39)	Y158F	probably benign	Het
Nat8l	T	A	5: 34,155,823 (GRCm39)	C160S	probably damaging	Het
Ncf4	T	C	15: 78,146,593 (GRCm39)		probably benign	Het
Or1b1	A	T	2: 36,994,814 (GRCm39)	Y283N	probably damaging	Het
Or1o3	T	C	17: 37,573,730 (GRCm39)	Y275C	probably damaging	Het
Pak2	T	A	16: 31,861,936 (GRCm39)		probably benign	Het
Pcdhga12	T	C	18: 37,901,160 (GRCm39)	I664T	probably benign	Het
Pcnx2	A	C	8: 126,564,749 (GRCm39)	L1048R	possibly damaging	Het
Pcsk5	T	C	19: 17,652,949 (GRCm39)	M246V	probably damaging	Het
Pkd2l2	T	A	18: 34,566,355 (GRCm39)	V522D	probably benign	Het
Plekhh1	A	T	12: 79,115,880 (GRCm39)	M808L	probably benign	Het
Plpp2	C	A	10: 79,362,973 (GRCm39)	R157L	probably benign	Het
Plrg1	T	A	3: 82,978,558 (GRCm39)	H441Q	probably benign	Het
Pnpla6	T	C	8: 3,572,613 (GRCm39)	V300A	probably damaging	Het
Ptprb	A	T	10: 116,184,088 (GRCm39)	K1633N	possibly damaging	Het
Ralgapa1	A	G	12: 55,659,508 (GRCm39)	V2004A	possibly damaging	Het
Rasd1	G	T	11: 59,854,933 (GRCm39)	S182R	possibly damaging	Het
Rc3h2	A	T	2: 37,288,373 (GRCm39)		probably null	Het
Rrp1b	T	A	17: 32,255,445 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,474,272 (GRCm39)	I425T	probably benign	Het
Shisal1	T	C	15: 84,301,427 (GRCm39)	D72G	probably damaging	Het
Sipa1l1	C	T	12: 82,487,682 (GRCm39)	A1652V	probably benign	Het
Slc12a2	A	G	18: 58,032,344 (GRCm39)	Y348C	probably damaging	Het
Slc14a2	C	A	18: 78,238,963 (GRCm39)	V219L	possibly damaging	Het
Smc1b	G	T	15: 84,949,185 (GRCm39)	P1242Q	probably damaging	Het
Smim33	A	G	18: 35,861,894 (GRCm39)	Y126C	probably damaging	Het
Snx27	T	A	3: 94,431,551 (GRCm39)	D281V	probably damaging	Het
Spem2	C	T	11: 69,707,973 (GRCm39)	V331I	probably benign	Het
Sptb	C	A	12: 76,656,052 (GRCm39)	K1343N	probably damaging	Het
Sult2a8	T	C	7: 14,147,584 (GRCm39)	I236V	probably benign	Het
Synm	T	A	7: 67,385,406 (GRCm39)	E310V	probably damaging	Het
Tas2r118	G	A	6: 23,969,209 (GRCm39)	A284V	probably benign	Het
Thoc2l	T	A	5: 104,667,742 (GRCm39)	F755I	probably damaging	Het
Tlr11	A	G	14: 50,600,578 (GRCm39)	N855D	possibly damaging	Het
Tmem230	G	T	2: 132,087,871 (GRCm39)		probably benign	Het
Trappc8	G	A	18: 20,977,237 (GRCm39)	T844I	probably benign	Het
Trmt44	T	C	5: 35,722,812 (GRCm39)	S419G	possibly damaging	Het
Trpv1	T	A	11: 73,132,574 (GRCm39)	V396E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp2	A	G	7: 139,587,354 (GRCm39)	I337T	possibly damaging	Het
Ubr4	T	C	4: 139,137,934 (GRCm39)	I1097T	probably damaging	Het
Vmn2r61	T	C	7: 41,949,953 (GRCm39)	F791S	possibly damaging	Het
Zdhhc2	T	A	8: 40,898,825 (GRCm39)	M45K	probably benign	Het
Zfp383	T	A	7: 29,614,166 (GRCm39)	D140E	probably damaging	Het
Zfp712	C	A	13: 67,189,425 (GRCm39)	K367N	probably damaging	Het
Zfp763	C	T	17: 33,237,949 (GRCm39)	A399T	probably damaging	Het

Other mutations in Syk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01478:Syk	APN	13	52,778,784 (GRCm39)	missense	probably benign	0.00
IGL01522:Syk	APN	13	52,797,097 (GRCm39)	missense	probably benign
IGL01957:Syk	APN	13	52,785,776 (GRCm39)	missense	probably benign
IGL01962:Syk	APN	13	52,764,993 (GRCm39)	missense	probably damaging	1.00
IGL02613:Syk	APN	13	52,797,076 (GRCm39)	missense	probably damaging	0.97
IGL02824:Syk	APN	13	52,777,319 (GRCm39)	splice site	probably benign
IGL03130:Syk	APN	13	52,776,768 (GRCm39)	missense	probably benign	0.12
Apricot	UTSW	13	52,794,769 (GRCm39)	missense	probably damaging	1.00
Poppy	UTSW	13	52,794,769 (GRCm39)	missense	probably damaging	1.00
Sisyphus	UTSW	13	52,794,826 (GRCm39)	missense	probably damaging	1.00
H8562:Syk	UTSW	13	52,794,657 (GRCm39)	missense	probably damaging	1.00
R0091:Syk	UTSW	13	52,794,769 (GRCm39)	missense	probably damaging	1.00
R0346:Syk	UTSW	13	52,794,695 (GRCm39)	missense	probably damaging	1.00
R1888:Syk	UTSW	13	52,794,826 (GRCm39)	missense	probably damaging	1.00
R1888:Syk	UTSW	13	52,794,826 (GRCm39)	missense	probably damaging	1.00
R1917:Syk	UTSW	13	52,776,744 (GRCm39)	missense	probably damaging	1.00
R2001:Syk	UTSW	13	52,765,274 (GRCm39)	missense	probably benign	0.21
R2919:Syk	UTSW	13	52,765,157 (GRCm39)	missense	probably benign
R3413:Syk	UTSW	13	52,785,775 (GRCm39)	missense	probably benign
R3695:Syk	UTSW	13	52,776,801 (GRCm39)	splice site	probably null
R4363:Syk	UTSW	13	52,794,766 (GRCm39)	missense	probably damaging	1.00
R4754:Syk	UTSW	13	52,766,295 (GRCm39)	intron	probably benign
R4755:Syk	UTSW	13	52,796,022 (GRCm39)	missense	probably benign	0.25
R4806:Syk	UTSW	13	52,786,963 (GRCm39)	missense	probably benign	0.14
R4817:Syk	UTSW	13	52,765,242 (GRCm39)	missense	probably benign	0.03
R4903:Syk	UTSW	13	52,765,117 (GRCm39)	missense	probably damaging	1.00
R4997:Syk	UTSW	13	52,766,484 (GRCm39)	nonsense	probably null
R5066:Syk	UTSW	13	52,796,018 (GRCm39)	missense	possibly damaging	0.49
R5267:Syk	UTSW	13	52,795,962 (GRCm39)	missense	probably benign	0.05
R5323:Syk	UTSW	13	52,785,753 (GRCm39)	missense	probably benign	0.00
R5705:Syk	UTSW	13	52,765,083 (GRCm39)	missense	probably benign	0.03
R6190:Syk	UTSW	13	52,765,089 (GRCm39)	missense	probably damaging	0.97
R6892:Syk	UTSW	13	52,786,934 (GRCm39)	missense	probably benign	0.00
R6932:Syk	UTSW	13	52,766,495 (GRCm39)	splice site	probably null
R6977:Syk	UTSW	13	52,787,094 (GRCm39)	missense	probably benign	0.00
R7496:Syk	UTSW	13	52,766,452 (GRCm39)	missense	probably benign
R7650:Syk	UTSW	13	52,765,131 (GRCm39)	missense	probably benign	0.24
R8081:Syk	UTSW	13	52,792,195 (GRCm39)	missense	probably benign	0.00
R8199:Syk	UTSW	13	52,778,768 (GRCm39)	missense	probably benign	0.00
R8350:Syk	UTSW	13	52,774,935 (GRCm39)	missense	probably damaging	1.00
R8381:Syk	UTSW	13	52,787,085 (GRCm39)	missense	probably benign	0.08
R8420:Syk	UTSW	13	52,778,763 (GRCm39)	missense	probably benign	0.02
R8450:Syk	UTSW	13	52,774,935 (GRCm39)	missense	probably damaging	1.00
R9177:Syk	UTSW	13	52,766,480 (GRCm39)	missense	probably benign	0.37
R9689:Syk	UTSW	13	52,778,808 (GRCm39)	missense	probably benign
Z1177:Syk	UTSW	13	52,786,949 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TACACTTCCCAGAACTCTGAAG -3'
(R):5'- TTCAGGTCCTCAAAGGGTCC -3'

Sequencing Primer
(F):5'- TTCCCAGAACTCTGAAGGGGTG -3'
(R):5'- TCCTCAAAGGGTCCGGTCTTG -3'

Posted On

2016-06-15