Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Fyn'

238503

Institutional Source

Beutler Lab

Gene Symbol

Fyn

Ensembl Gene

ENSMUSG00000019843

Gene Name

Fyn proto-oncogene

Synonyms

Src Kinase p59

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39245735-39441377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39405541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 269 (E269G)

Ref Sequence

ENSEMBL: ENSMUSP00000097547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063091] [ENSMUST00000099967] [ENSMUST00000126486] [ENSMUST00000135242] [ENSMUST00000136659] [ENSMUST00000146287]

AlphaFold

P39688

Predicted Effect

probably benign
Transcript: ENSMUST00000063091

SMART Domains

Protein: ENSMUSP00000057707
Gene: ENSMUSG00000019843

Domain	Start	End	E-Value	Type
SH3	85	142	4.21e-24	SMART
SH2	147	237	3.86e-34	SMART
TyrKc	268	517	8.07e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099967
AA Change: E269G

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097547
Gene: ENSMUSG00000019843
AA Change: E269G

Domain	Start	End	E-Value	Type
SH3	85	142	4.21e-24	SMART
SH2	147	237	1.65e-33	SMART
TyrKc	271	520	1.08e-133	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123205

Predicted Effect

probably benign
Transcript: ENSMUST00000126486

SMART Domains

Protein: ENSMUSP00000115233
Gene: ENSMUSG00000019843

Domain	Start	End	E-Value	Type
SH3	85	142	4.21e-24	SMART
SH2	147	237	3.86e-34	SMART
TyrKc	268	517	8.07e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135242

SMART Domains

Protein: ENSMUSP00000117111
Gene: ENSMUSG00000019843

Domain	Start	End	E-Value	Type
SH3	85	142	4.21e-24	SMART
SH2	147	237	3.86e-34	SMART
TyrKc	268	517	8.07e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136659

SMART Domains

Protein: ENSMUSP00000118131
Gene: ENSMUSG00000019843

Domain	Start	End	E-Value	Type
SH3	85	142	4.21e-24	SMART
SH2	147	237	4.37e-33	SMART
TyrKc	222	465	7.5e-119	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146287

SMART Domains

Protein: ENSMUSP00000114188
Gene: ENSMUSG00000019843

Domain	Start	End	E-Value	Type
SH3	85	142	4.21e-24	SMART
SH2	147	237	3.86e-34	SMART
TyrKc	268	517	8.07e-133	SMART

Meta Mutation Damage Score

0.1017

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Different targeted allele homozygotes show different defects, including seizure susceptibility, anxiety, impaired suckling, myelination, LTP and spatial learning, and defects in immune system, circadian rhythm, testes weight and olfactory bulb formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	C	14: 66,875,385 (GRCm39)	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,627,464 (GRCm39)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,483,255 (GRCm39)	K251R	probably benign	Het
Ank2	T	C	3: 126,728,226 (GRCm39)	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacna2d4	T	C	6: 119,324,220 (GRCm39)		probably benign	Het
Carf	G	A	1: 60,180,643 (GRCm39)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Celf6	G	T	9: 59,510,622 (GRCm39)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,223,419 (GRCm39)	I475N	probably benign	Het
Chdh	T	A	14: 29,753,489 (GRCm39)	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,227,800 (GRCm39)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 64,838,524 (GRCm39)	T867K	probably benign	Het
Ctse	T	G	1: 131,600,185 (GRCm39)	Y311*	probably null	Het
Ddx60	T	A	8: 62,411,097 (GRCm39)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,750,325 (GRCm39)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,594,499 (GRCm39)	S543P	probably benign	Het
Dspp	A	T	5: 104,323,567 (GRCm39)	T237S	probably benign	Het
Eml6	T	G	11: 29,800,935 (GRCm39)	H357P	probably benign	Het
Epha3	T	C	16: 63,664,507 (GRCm39)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,794,806 (GRCm39)	T155I	probably damaging	Het
Erh	T	C	12: 80,689,559 (GRCm39)		probably benign	Het
F5	A	T	1: 164,034,603 (GRCm39)	K1834M	probably damaging	Het
Gm4884	A	G	7: 40,690,229 (GRCm39)	T42A	probably benign	Het
Grm1	T	G	10: 10,658,520 (GRCm39)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,658,235 (GRCm39)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 105,682,758 (GRCm39)	M166L	probably benign	Het
Ldlr	A	G	9: 21,643,698 (GRCm39)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,101,575 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,289,100 (GRCm39)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,257,130 (GRCm39)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,487,925 (GRCm39)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,437,950 (GRCm39)	M1T	probably null	Het
Or2y16	C	T	11: 49,334,786 (GRCm39)	S36F	probably benign	Het
Or6c88	T	A	10: 129,406,915 (GRCm39)	Y130*	probably null	Het
Or8g18	G	A	9: 39,149,048 (GRCm39)	T224I	possibly damaging	Het
Pip4k2a	A	T	2: 18,852,466 (GRCm39)	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,640,704 (GRCm39)	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm39)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,481,266 (GRCm39)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,691,001 (GRCm39)		probably benign	Het
Slc8a1	T	A	17: 81,715,685 (GRCm39)	K783*	probably null	Het
Sobp	A	C	10: 42,898,520 (GRCm39)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,899,779 (GRCm39)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,426,147 (GRCm39)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,723,293 (GRCm39)	P251L	probably damaging	Het
Tnks	A	T	8: 35,315,803 (GRCm39)	D994E	probably benign	Het
Tnks	C	T	8: 35,340,221 (GRCm39)	D466N	probably benign	Het
Tonsl	A	G	15: 76,520,872 (GRCm39)	F394L	probably benign	Het
Trpa1	T	A	1: 14,980,970 (GRCm39)	Y144F	probably benign	Het
Usp22	A	G	11: 61,050,163 (GRCm39)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 11,886,487 (GRCm39)	V33F	probably benign	Het
Wdr81	C	T	11: 75,336,907 (GRCm39)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,226,697 (GRCm39)		noncoding transcript	Het
Zc3h14	G	A	12: 98,719,068 (GRCm39)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,719,069 (GRCm39)	V145M	possibly damaging	Het
Zfp82	T	C	7: 29,756,936 (GRCm39)	T49A	probably benign	Het

Other mutations in Fyn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01988:Fyn	APN	10	39,409,917 (GRCm39)	nonsense	probably null
IGL02626:Fyn	APN	10	39,402,798 (GRCm39)	missense	probably damaging	1.00
H8562:Fyn	UTSW	10	39,387,950 (GRCm39)	missense	probably benign	0.00
R0128:Fyn	UTSW	10	39,387,978 (GRCm39)	missense	probably benign	0.00
R0130:Fyn	UTSW	10	39,387,978 (GRCm39)	missense	probably benign	0.00
R0336:Fyn	UTSW	10	39,402,897 (GRCm39)	missense	possibly damaging	0.52
R1446:Fyn	UTSW	10	39,398,775 (GRCm39)	missense	probably benign	0.43
R1498:Fyn	UTSW	10	39,408,120 (GRCm39)	missense	possibly damaging	0.90
R1539:Fyn	UTSW	10	39,408,066 (GRCm39)	missense	possibly damaging	0.94
R1912:Fyn	UTSW	10	39,402,828 (GRCm39)	missense	possibly damaging	0.94
R2339:Fyn	UTSW	10	39,398,781 (GRCm39)	missense	probably benign	0.00
R3107:Fyn	UTSW	10	39,427,451 (GRCm39)	missense	probably damaging	1.00
R3109:Fyn	UTSW	10	39,427,451 (GRCm39)	missense	probably damaging	1.00
R5068:Fyn	UTSW	10	39,402,839 (GRCm39)	missense	probably damaging	1.00
R5233:Fyn	UTSW	10	39,405,936 (GRCm39)	missense	probably benign
R5929:Fyn	UTSW	10	39,427,457 (GRCm39)	missense	probably damaging	1.00
R6360:Fyn	UTSW	10	39,402,879 (GRCm39)	missense	possibly damaging	0.83
R6379:Fyn	UTSW	10	39,331,070 (GRCm39)	start gained	probably benign
R6490:Fyn	UTSW	10	39,427,398 (GRCm39)	missense	probably damaging	1.00
R7179:Fyn	UTSW	10	39,408,120 (GRCm39)	missense	possibly damaging	0.90
R8087:Fyn	UTSW	10	39,405,553 (GRCm39)	nonsense	probably null
R8246:Fyn	UTSW	10	39,405,525 (GRCm39)	missense	probably damaging	1.00
R9084:Fyn	UTSW	10	39,402,845 (GRCm39)	missense	probably damaging	0.97
R9167:Fyn	UTSW	10	39,402,811 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGCGTCGAATCTCCTGTG -3'
(R):5'- AGACAGCTGTAGTTCTTGCC -3'

Sequencing Primer
(F):5'- GTCGAATCTCCTGTGGCCTG -3'
(R):5'- GACAGCTGTAGTTCTTGCCTGTTTC -3'

Posted On

2014-10-02