Mutagenetix > Incidental Mutation

Incidental Mutation 'R4903:Syk'

377979

Institutional Source

Beutler Lab

Gene Symbol

Syk

Ensembl Gene

ENSMUSG00000021457

Gene Name

spleen tyrosine kinase

Synonyms

Sykb

MMRRC Submission

042506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52737209-52802828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52765117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 81 (H81Q)

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: H81Q

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

SMART Domains

Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: H81Q

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: H81Q

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

SMART Domains

Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: H81Q

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: H81Q

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

SMART Domains

Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: H81Q

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: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abca9	A	G	11: 110,037,827 (GRCm39)	Y508H	probably damaging	Het
Abcc9	A	T	6: 142,546,691 (GRCm39)	L1347H	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Agbl2	A	G	2: 90,627,817 (GRCm39)	I207M	possibly damaging	Het
Akna	C	A	4: 63,292,274 (GRCm39)	R1130S	probably damaging	Het
Alg12	A	T	15: 88,698,743 (GRCm39)	I194N	probably damaging	Het
Alk	T	A	17: 72,176,558 (GRCm39)	H1582L	probably damaging	Het
Atn1	G	C	6: 124,720,220 (GRCm39)		probably benign	Het
Carhsp1	T	C	16: 8,478,864 (GRCm39)	T130A	probably damaging	Het
Chrna3	T	C	9: 54,922,810 (GRCm39)	T333A	probably benign	Het
Ctsr	T	A	13: 61,310,945 (GRCm39)	I34L	probably benign	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Dars2	G	C	1: 160,878,941 (GRCm39)	P362R	probably benign	Het
Dnah10	A	G	5: 124,894,812 (GRCm39)	E3459G	probably damaging	Het
Dus2	G	A	8: 106,771,437 (GRCm39)	D188N	probably benign	Het
Ece2	C	T	16: 20,449,972 (GRCm39)	R189*	probably null	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Egr2	T	A	10: 67,374,163 (GRCm39)	I51N	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Gm11564	A	C	11: 99,705,858 (GRCm39)	C191G	unknown	Het
Gpatch8	A	G	11: 102,370,959 (GRCm39)	S860P	unknown	Het
Gprin1	C	G	13: 54,885,742 (GRCm39)	W844S	probably damaging	Het
Hhipl2	T	A	1: 183,207,698 (GRCm39)	Y252*	probably null	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hrg	A	G	16: 22,779,901 (GRCm39)		probably benign	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Jak2	A	G	19: 29,252,436 (GRCm39)	S129G	probably benign	Het
Kif1a	C	T	1: 92,949,456 (GRCm39)	E1579K	probably damaging	Het
Lhcgr	A	T	17: 89,049,789 (GRCm39)	I579N	probably damaging	Het
Lrig3	A	T	10: 125,832,482 (GRCm39)		probably null	Het
Man2c1	C	A	9: 57,046,240 (GRCm39)	Q465K	probably benign	Het
Map3k5	T	A	10: 19,994,235 (GRCm39)	L1043Q	probably null	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mapk8ip3	A	G	17: 25,120,183 (GRCm39)	S946P	probably benign	Het
Mrpl50	T	C	4: 49,514,488 (GRCm39)	Y61C	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Nek11	T	C	9: 105,191,921 (GRCm39)	K163R	possibly damaging	Het
Or1l4b	A	T	2: 37,036,383 (GRCm39)	H53L	probably benign	Het
Or4c105	A	T	2: 88,648,342 (GRCm39)	I276L	probably benign	Het
Pcdhga9	C	A	18: 37,872,058 (GRCm39)	T629K	probably damaging	Het
Pglyrp1	A	G	7: 18,624,128 (GRCm39)	N137S	probably benign	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pitpnm2	T	A	5: 124,290,668 (GRCm39)	Y6F	probably damaging	Het
Pkd1	T	G	17: 24,790,976 (GRCm39)	V1057G	probably benign	Het
Plcb3	C	A	19: 6,933,211 (GRCm39)	R970L	probably damaging	Het
Plekha5	T	A	6: 140,532,093 (GRCm39)	M586K	probably damaging	Het
Ppp4r4	T	A	12: 103,557,030 (GRCm39)		probably null	Het
Rasal3	C	T	17: 32,616,357 (GRCm39)	C278Y	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Sema3d	A	G	5: 12,613,125 (GRCm39)	K401E	probably benign	Het
Sema7a	T	C	9: 57,862,378 (GRCm39)	Y194H	probably benign	Het
Senp5	A	T	16: 31,802,117 (GRCm39)	Y585N	probably damaging	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Shbg	C	T	11: 69,505,912 (GRCm39)	S365N	probably benign	Het
Slc39a6	A	T	18: 24,730,925 (GRCm39)	S65T	probably damaging	Het
Stk3	T	C	15: 34,959,212 (GRCm39)	E320G	probably damaging	Het
Tet1	A	G	10: 62,658,437 (GRCm39)	W1470R	probably damaging	Het
Thada	C	A	17: 84,559,828 (GRCm39)	V1450L	possibly damaging	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trdv1	T	A	14: 54,119,375 (GRCm39)		probably benign	Het
Trim40	T	C	17: 37,194,117 (GRCm39)	E192G	possibly damaging	Het
Trip11	A	T	12: 101,853,065 (GRCm39)		probably null	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Tshr	A	G	12: 91,367,962 (GRCm39)	D35G	probably benign	Het
Tssc4	T	C	7: 142,624,322 (GRCm39)	V210A	probably damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl4a	T	C	18: 80,250,493 (GRCm39)	F30L	probably damaging	Het
Ubac2	G	T	14: 122,231,650 (GRCm39)	C192F	probably benign	Het
Vmn1r12	A	G	6: 57,136,502 (GRCm39)	T156A	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,578 (GRCm39)	T175S	probably benign	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
R4997:Syk	UTSW	13	52,766,484 (GRCm39)	nonsense	probably null
R5066:Syk	UTSW	13	52,796,018 (GRCm39)	missense	possibly damaging	0.49
R5114:Syk	UTSW	13	52,765,071 (GRCm39)	missense	probably damaging	1.00
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'- AGAGGCTGAAGACTACCTGGTC -3'
(R):5'- GCACAGGCTCTGAATATGTTTAGAG -3'

Sequencing Primer
(F):5'- TGGTCCAGGGAGGCATGAC -3'
(R):5'- TTAGAGAACTCTGTGGGCTCAAGC -3'

Posted On

2016-04-15