Mutagenetix > Incidental Mutation

Incidental Mutation 'R5267:Syk'

401797

Institutional Source

Beutler Lab

Gene Symbol

Syk

Ensembl Gene

ENSMUSG00000021457

Gene Name

spleen tyrosine kinase

Synonyms

Sykb

MMRRC Submission

042859-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5267 (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 52795962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 519 (K519R)

Ref Sequence

ENSEMBL: ENSMUSP00000112914 (fasta)

Gene Model

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

AlphaFold

P48025

Predicted Effect

probably benign
Transcript: ENSMUST00000055087
AA Change: K542R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: K542R

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: K519R

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: K519R

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: K542R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: K542R

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

0.1446

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (86/88)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,374,933 (GRCm39)		probably benign	Het
Adam15	T	G	3: 89,257,206 (GRCm39)		probably benign	Het
Albfm1	T	C	5: 90,732,716 (GRCm39)	F509S	probably damaging	Het
Atp12a	T	C	14: 56,621,668 (GRCm39)	S768P	probably damaging	Het
Atp8a1	G	A	5: 67,919,887 (GRCm39)	T393I	probably damaging	Het
B4galnt4	T	G	7: 140,650,524 (GRCm39)	I3S	probably damaging	Het
Bfsp1	G	A	2: 143,668,971 (GRCm39)	T536I	probably benign	Het
Brsk1	G	T	7: 4,707,708 (GRCm39)	W284L	probably damaging	Het
Cadm3	A	T	1: 173,164,669 (GRCm39)	D370E	probably damaging	Het
Cadps2	A	G	6: 23,626,667 (GRCm39)	I207T	possibly damaging	Het
Calr4	A	C	4: 109,101,273 (GRCm39)	T52P	probably damaging	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Ckap5	T	A	2: 91,422,097 (GRCm39)	N1166K	probably null	Het
Clca4a	G	A	3: 144,659,573 (GRCm39)	T761I	probably damaging	Het
Cnksr3	A	T	10: 7,076,633 (GRCm39)		probably null	Het
Diaph3	A	G	14: 86,893,989 (GRCm39)	S7P	probably benign	Het
Dnah7a	G	A	1: 53,518,851 (GRCm39)	P2969S	probably damaging	Het
Dnai2	A	T	11: 114,631,293 (GRCm39)	T221S	probably benign	Het
Dsc2	A	G	18: 20,167,640 (GRCm39)		probably null	Het
Eif4g1	A	G	16: 20,504,283 (GRCm39)	N789S	probably damaging	Het
Fn1	C	T	1: 71,668,863 (GRCm39)	R694H	probably damaging	Het
Gm5478	G	A	15: 101,552,837 (GRCm39)	R365C	probably damaging	Het
Gm5591	A	T	7: 38,218,338 (GRCm39)	M845K	possibly damaging	Het
Gm5800	A	T	14: 51,951,294 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
H2-Q2	A	T	17: 35,562,155 (GRCm39)	Y134F	probably benign	Het
Hcfc1r1	A	G	17: 23,893,648 (GRCm39)	R76G	possibly damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Herc1	G	T	9: 66,369,091 (GRCm39)	L2928F	probably damaging	Het
Hmx3	C	T	7: 131,145,898 (GRCm39)	A202V	probably benign	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Il20ra	A	G	10: 19,625,107 (GRCm39)	T129A	probably damaging	Het
Il21	T	C	3: 37,281,946 (GRCm39)	H66R	probably benign	Het
Kcnh5	A	T	12: 75,134,190 (GRCm39)	M453K	probably damaging	Het
Kdf1	C	G	4: 133,256,258 (GRCm39)	A325G	probably damaging	Het
Klhl10	C	T	11: 100,338,047 (GRCm39)	A262V	probably benign	Het
Krt81	T	A	15: 101,357,340 (GRCm39)	N464I	probably benign	Het
Ksr1	A	T	11: 78,911,251 (GRCm39)	I698N	probably damaging	Het
Lrp2	A	G	2: 69,379,322 (GRCm39)	V130A	possibly damaging	Het
Mcm2	T	C	6: 88,874,432 (GRCm39)	T25A	probably benign	Het
Mrps18c	T	A	5: 100,950,960 (GRCm39)	Y93*	probably null	Het
Mycl	C	T	4: 122,894,289 (GRCm39)	A363V	probably damaging	Het
Mylk2	C	A	2: 152,755,469 (GRCm39)	A211E	probably benign	Het
Myo5a	G	A	9: 75,059,292 (GRCm39)	D507N	probably damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Oas1a	A	T	5: 121,037,284 (GRCm39)	C248S	probably benign	Het
Or2ag2b	T	C	7: 106,418,015 (GRCm39)	S242P	probably damaging	Het
Or4c15b	C	T	2: 89,112,574 (GRCm39)	W301*	probably null	Het
Or51aa2	T	C	7: 103,188,031 (GRCm39)	I137V	probably benign	Het
Or5b116	A	G	19: 13,422,475 (GRCm39)	Y33C	probably damaging	Het
Or5m9b	T	A	2: 85,905,882 (GRCm39)	V266E	probably benign	Het
Or5p67	A	G	7: 107,922,185 (GRCm39)	S233P	probably damaging	Het
Or8d1	G	A	9: 38,767,101 (GRCm39)	V248M	probably damaging	Het
Otub1	C	A	19: 7,177,357 (GRCm39)	G67C	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr8	A	G	1: 21,004,920 (GRCm39)	I25V	probably benign	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pde4d	T	G	13: 109,397,343 (GRCm39)		probably benign	Het
Pdzd8	C	A	19: 59,289,458 (GRCm39)	K647N	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Praf2	T	C	X: 7,596,641 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,939,575 (GRCm39)		probably benign	Het
Psg25	A	T	7: 18,258,711 (GRCm39)	Y322N	possibly damaging	Het
Rxrg	A	G	1: 167,463,335 (GRCm39)	E402G	probably damaging	Het
Selenok	T	A	14: 29,692,022 (GRCm39)	V20E	probably benign	Het
Sipa1	G	A	19: 5,705,786 (GRCm39)	T394I	probably benign	Het
Spag17	A	T	3: 99,969,264 (GRCm39)	N1247I	probably damaging	Het
Spata31d1c	A	G	13: 65,183,718 (GRCm39)	D420G	probably damaging	Het
Syne2	A	T	12: 75,985,515 (GRCm39)	E1654D	possibly damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Thsd7a	T	A	6: 12,379,601 (GRCm39)	E941V	probably damaging	Het
Tjp1	T	C	7: 64,972,797 (GRCm39)	T548A	probably damaging	Het
Tube1	C	A	10: 39,020,552 (GRCm39)	D210E	probably benign	Het
Vmn1r183	T	A	7: 23,754,971 (GRCm39)	I258N	possibly damaging	Het
Vmn1r89	A	T	7: 12,954,140 (GRCm39)	N292I	probably damaging	Het
Vmp1	C	A	11: 86,554,377 (GRCm39)	V79L	probably benign	Het
Zfp182	T	A	X: 20,902,605 (GRCm39)	D125V	possibly damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Znrf1	G	A	8: 112,263,899 (GRCm39)	A43T	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
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
R5114:Syk	UTSW	13	52,765,071 (GRCm39)	missense	probably damaging	1.00
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'- ACTGTGACTTTCAGCAGAGG -3'
(R):5'- CCCACTGTTAGAAGGTGATGG -3'

Sequencing Primer
(F):5'- GCAGAGGCTTTTTCCTACCC -3'
(R):5'- TCCTCAGATTCCAGGGGTTCAG -3'

Posted On

2016-07-06