Mutagenetix > Incidental Mutation

Incidental Mutation 'R0336:Fyn'

34128

Institutional Source

Beutler Lab

Gene Symbol

Fyn

Ensembl Gene

ENSMUSG00000019843

Gene Name

Fyn proto-oncogene

Synonyms

Src Kinase p59

MMRRC Submission

038545-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0336 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39245735-39441377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 39402897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 223 (T223K)

Ref Sequence

ENSEMBL: ENSMUSP00000118131 (fasta)

Gene Model

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

AlphaFold

P39688

Predicted Effect

probably benign
Transcript: ENSMUST00000063091
AA Change: T223K

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000057707
Gene: ENSMUSG00000019843
AA Change: T223K

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: T223K

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097547
Gene: ENSMUSG00000019843
AA Change: T223K

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

probably benign
Transcript: ENSMUST00000126486
AA Change: T223K

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115233
Gene: ENSMUSG00000019843
AA Change: T223K

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
AA Change: T223K

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117111
Gene: ENSMUSG00000019843
AA Change: T223K

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: T223K

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118131
Gene: ENSMUSG00000019843
AA Change: T223K

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
AA Change: T223K

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114188
Gene: ENSMUSG00000019843
AA Change: T223K

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

0.2552

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.1%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,481 (GRCm39)	I2743V	probably benign	Het
Adamts16	A	G	13: 70,939,913 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,458,998 (GRCm39)	I427V	probably benign	Het
Arhgef1	T	A	7: 24,621,382 (GRCm39)	F510I	possibly damaging	Het
B3glct	A	G	5: 149,670,057 (GRCm39)	D342G	probably damaging	Het
Bcl2a1c	G	T	9: 114,159,353 (GRCm39)	V44F	probably damaging	Het
Brca1	A	G	11: 101,414,819 (GRCm39)	V1105A	probably benign	Het
Ccn5	C	A	2: 163,674,242 (GRCm39)	A214D	probably damaging	Het
Cep135	A	G	5: 76,749,349 (GRCm39)	H272R	probably benign	Het
Coa8	T	C	12: 111,700,092 (GRCm39)		probably benign	Het
Cog1	A	C	11: 113,553,076 (GRCm39)	H365P	probably benign	Het
Col12a1	A	T	9: 79,609,627 (GRCm39)	L293Q	probably damaging	Het
Col18a1	A	G	10: 76,894,570 (GRCm39)	L1493P	probably damaging	Het
Ctsh	A	G	9: 89,957,791 (GRCm39)	Y290C	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb39	G	T	8: 19,102,985 (GRCm39)	H37N	possibly damaging	Het
Epha3	A	G	16: 63,387,011 (GRCm39)	I875T	probably damaging	Het
Fbrsl1	A	G	5: 110,595,817 (GRCm39)	S73P	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fndc1	C	T	17: 7,983,939 (GRCm39)	R1329Q	unknown	Het
Galnt6	A	T	15: 100,597,087 (GRCm39)	S360T	probably damaging	Het
Grsf1	C	A	5: 88,811,012 (GRCm39)	V336F	probably damaging	Het
Hip1	A	T	5: 135,457,467 (GRCm39)	Y720N	probably benign	Het
Hivep3	G	A	4: 119,961,044 (GRCm39)	E1700K	probably damaging	Het
Ifna6	T	C	4: 88,746,178 (GRCm39)	S176P	probably damaging	Het
Lilrb4b	T	A	10: 51,357,389 (GRCm39)	L75Q	probably benign	Het
Lrig3	C	T	10: 125,802,574 (GRCm39)	T77I	probably benign	Het
Mpped1	C	T	15: 83,720,483 (GRCm39)	P135L	probably damaging	Het
Mss51	T	A	14: 20,533,254 (GRCm39)	I406F	possibly damaging	Het
Mybpc2	T	C	7: 44,155,040 (GRCm39)	N956D	probably damaging	Het
Or4a27	T	C	2: 88,559,498 (GRCm39)	I148M	possibly damaging	Het
Podxl2	G	A	6: 88,826,577 (GRCm39)	T243I	probably benign	Het
Polr2a	C	T	11: 69,627,719 (GRCm39)	R1396Q	possibly damaging	Het
Pramel51	T	C	12: 88,144,961 (GRCm39)	I122V	probably benign	Het
Pygm	C	T	19: 6,438,788 (GRCm39)	R205W	probably damaging	Het
Rfx3	A	G	19: 27,783,662 (GRCm39)	M428T	probably benign	Het
Ric1	A	T	19: 29,565,193 (GRCm39)	T647S	probably damaging	Het
Rictor	G	A	15: 6,806,234 (GRCm39)		probably null	Het
Rnf38	A	T	4: 44,152,350 (GRCm39)		probably benign	Het
Slc6a21	T	A	7: 44,935,892 (GRCm39)	I41K	probably damaging	Het
St8sia4	T	A	1: 95,581,283 (GRCm39)	D153V	probably benign	Het
Stk33	T	C	7: 108,930,681 (GRCm39)	N226S	probably benign	Het
Strn3	A	G	12: 51,708,391 (GRCm39)		probably null	Het
Tlr6	G	T	5: 65,111,289 (GRCm39)	N539K	probably benign	Het
Tmem129	G	T	5: 33,812,946 (GRCm39)	P134Q	probably damaging	Het
Tmem94	A	G	11: 115,678,211 (GRCm39)	I145V	probably benign	Het
Trap1	A	C	16: 3,862,490 (GRCm39)	V596G	probably damaging	Het
Tspan2	A	G	3: 102,642,343 (GRCm39)	I11V	probably null	Het
Ttc23	A	T	7: 67,312,231 (GRCm39)	H46L	probably benign	Het
Txnip	T	A	3: 96,467,295 (GRCm39)	D292E	probably benign	Het
Vmn1r121	T	A	7: 20,832,387 (GRCm39)	I18F	possibly damaging	Het
Vmn1r61	G	A	7: 5,614,066 (GRCm39)	H83Y	probably benign	Het
Vmn1r82	T	C	7: 12,039,248 (GRCm39)	S174P	probably benign	Het
Vmn2r79	A	C	7: 86,651,287 (GRCm39)	T229P	probably benign	Het
Vps13b	T	G	15: 35,455,279 (GRCm39)	Y729*	probably null	Het
Xdh	C	T	17: 74,229,458 (GRCm39)	V332M	possibly damaging	Het
Xkr5	C	A	8: 18,990,652 (GRCm39)	R205L	possibly damaging	Het
Zc3h4	T	C	7: 16,169,103 (GRCm39)	S1071P	unknown	Het
Zc3h6	A	G	2: 128,857,332 (GRCm39)	H617R	possibly damaging	Het
Zfp597	A	G	16: 3,684,243 (GRCm39)	V171A	probably benign	Het
Zfp709	T	C	8: 72,644,449 (GRCm39)	F626S	probably damaging	Het
Zfp944	C	A	17: 22,558,009 (GRCm39)	D413Y	probably damaging	Het
Zfp979	A	C	4: 147,697,592 (GRCm39)	S372R	possibly 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
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
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'- GTGGCTAATGCTTGCACGTTTACC -3'
(R):5'- CACAGTTCTGCATGGCAATGAAGG -3'

Sequencing Primer
(F):5'- GATATGAAAGGGGACCACGT -3'
(R):5'- AAACTACTGCCTTCTACTGGGG -3'

Posted On

2013-05-09