Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Fyn'

513076

Institutional Source

Beutler Lab

Gene Symbol

Fyn

Ensembl Gene

ENSMUSG00000019843

Gene Name

Fyn proto-oncogene

Synonyms

Src Kinase p59

MMRRC Submission

044510-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39245735-39441377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 39402879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 217 (T217K)

Ref Sequence

ENSEMBL: ENSMUSP00000114188 (fasta)

Gene Model

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

AlphaFold

P39688

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063091
AA Change: T217K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057707
Gene: ENSMUSG00000019843
AA Change: T217K

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

possibly damaging
Transcript: ENSMUST00000099967
AA Change: T217K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097547
Gene: ENSMUSG00000019843
AA Change: T217K

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

possibly damaging
Transcript: ENSMUST00000126486
AA Change: T217K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115233
Gene: ENSMUSG00000019843
AA Change: T217K

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

possibly damaging
Transcript: ENSMUST00000135242
AA Change: T217K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117111
Gene: ENSMUSG00000019843
AA Change: T217K

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

possibly damaging
Transcript: ENSMUST00000136659
AA Change: T217K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118131
Gene: ENSMUSG00000019843
AA Change: T217K

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

possibly damaging
Transcript: ENSMUST00000146287
AA Change: T217K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114188
Gene: ENSMUSG00000019843
AA Change: T217K

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,985,831 (GRCm39)	Q657*	probably null	Het
Car15	T	C	16: 17,655,930 (GRCm39)	T560A	probably benign	Het
Cass4	C	T	2: 172,274,531 (GRCm39)	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,546 (GRCm39)	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,415,388 (GRCm39)	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,359,461 (GRCm39)	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Dab2ip	A	G	2: 35,600,278 (GRCm39)	H355R	probably benign	Het
Dennd2a	C	T	6: 39,470,076 (GRCm39)	A539T	probably benign	Het
Dnajc18	T	C	18: 35,819,762 (GRCm39)	E173G	probably damaging	Het
Dock7	T	C	4: 98,857,899 (GRCm39)	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931 (GRCm39)	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619 (GRCm38)	H73P	probably damaging	Het
Flg	A	G	3: 93,197,908 (GRCm39)		probably benign	Het
Gbp9	T	C	5: 105,231,596 (GRCm39)	D330G	probably benign	Het
Gin1	T	C	1: 97,720,264 (GRCm39)	S509P	possibly damaging	Het
Gm17067	A	C	7: 42,357,906 (GRCm39)	S199A	probably benign	Het
Grk4	A	T	5: 34,831,881 (GRCm39)	K50M	probably damaging	Het
Inpp4b	A	G	8: 82,629,481 (GRCm39)	H272R	probably benign	Het
Ipo7	T	A	7: 109,626,336 (GRCm39)	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,756,191 (GRCm39)	I515T	probably damaging	Het
Kcnu1	T	A	8: 26,351,208 (GRCm39)	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,064,096 (GRCm39)	N336S	probably benign	Het
Lbr	G	T	1: 181,659,720 (GRCm39)	D158E	probably benign	Het
Mphosph10	T	C	7: 64,039,703 (GRCm39)	Q89R	probably benign	Het
Nectin3	T	A	16: 46,231,472 (GRCm39)	T21S	probably benign	Het
Numb	C	A	12: 83,844,036 (GRCm39)	R383L	probably damaging	Het
Or2p2	A	T	13: 21,256,753 (GRCm39)	N239K	probably damaging	Het
Or9a7	G	T	6: 40,521,647 (GRCm39)	Q89K	possibly damaging	Het
Pcdhb11	A	T	18: 37,555,212 (GRCm39)	I181F	probably benign	Het
Pcgf2	T	A	11: 97,583,235 (GRCm39)		probably null	Het
Pdzd8	T	C	19: 59,289,415 (GRCm39)	T662A	probably benign	Het
Pex13	A	C	11: 23,605,690 (GRCm39)	V180G	probably benign	Het
Pira1	A	T	7: 3,739,503 (GRCm39)	L455Q	probably damaging	Het
Pkp4	T	A	2: 59,045,091 (GRCm39)	V22D	probably benign	Het
Prkn	T	C	17: 12,222,939 (GRCm39)	F363S	probably damaging	Het
Prpf4b	A	C	13: 35,085,416 (GRCm39)	D954A	probably damaging	Het
Rfx8	T	C	1: 39,720,125 (GRCm39)	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,598,868 (GRCm39)	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778 (GRCm39)	C453S	possibly damaging	Het
Saxo4	T	C	19: 10,456,845 (GRCm39)	N167D	probably damaging	Het
Scarf1	G	T	11: 75,406,495 (GRCm39)	G260W	probably damaging	Het
Scyl1	T	C	19: 5,810,599 (GRCm39)	E538G	probably damaging	Het
Sec14l5	A	T	16: 4,990,859 (GRCm39)	I267F	probably damaging	Het
Senp6	T	A	9: 80,021,088 (GRCm39)	V256D	probably benign	Het
Sf3b4	G	A	3: 96,084,044 (GRCm39)		probably benign	Het
Ssh1	T	C	5: 114,099,408 (GRCm39)		probably null	Het
Tas2r143	A	C	6: 42,377,769 (GRCm39)	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,098,830 (GRCm39)	P19S	probably damaging	Het
Tent5b	T	C	4: 133,214,067 (GRCm39)	F313L	probably damaging	Het
Tmc5	T	A	7: 118,233,189 (GRCm39)	M1K	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,468,866 (GRCm39)	E285G	probably damaging	Het
Txndc11	C	T	16: 10,902,656 (GRCm39)	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,553,908 (GRCm39)	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476 (GRCm39)	I369L	probably benign	Het
Vwf	A	T	6: 125,660,489 (GRCm39)	T2666S	probably benign	Het
Yif1a	A	G	19: 5,142,369 (GRCm39)	M259V	probably benign	Het
Zbtb46	T	C	2: 181,033,248 (GRCm39)	D471G	probably damaging	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
R2198:Fyn	UTSW	10	39,405,541 (GRCm39)	missense	probably benign	0.13
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
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'- ACATAAATGAGGCCTGCAGAGC -3'
(R):5'- ATCCTATCTGGGGCAGAAGAGC -3'

Sequencing Primer
(F):5'- TGCAGAGCAGACTGGGGC -3'
(R):5'- GAACCCCGGACTCCATCTGTC -3'

Posted On

2018-04-27