Mutagenetix > Incidental Mutation

Incidental Mutation 'R0128:Fyn'

60515

Institutional Source

Beutler Lab

Gene Symbol

Fyn

Ensembl Gene

ENSMUSG00000019843

Gene Name

Fyn proto-oncogene

Synonyms

Src Kinase p59

MMRRC Submission

038413-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0128 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

39245735-39441377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39387978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 78 (T78M)

Ref Sequence

ENSEMBL: ENSMUSP00000123445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063091] [ENSMUST00000099967] [ENSMUST00000126486] [ENSMUST00000135242] [ENSMUST00000136659] [ENSMUST00000146287] [ENSMUST00000148152] [ENSMUST00000157009]

AlphaFold

P39688

Predicted Effect

probably benign
Transcript: ENSMUST00000063091
AA Change: T78M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000057707
Gene: ENSMUSG00000019843
AA Change: T78M

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: T78M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097547
Gene: ENSMUSG00000019843
AA Change: T78M

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: T78M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115233
Gene: ENSMUSG00000019843
AA Change: T78M

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: T78M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117111
Gene: ENSMUSG00000019843
AA Change: T78M

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
AA Change: T78M

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

SMART Domains

Protein: ENSMUSP00000118131
Gene: ENSMUSG00000019843
AA Change: T78M

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: T78M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114188
Gene: ENSMUSG00000019843
AA Change: T78M

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: ENSMUST00000148152
AA Change: T78M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123445
Gene: ENSMUSG00000019843
AA Change: T78M

Domain	Start	End	E-Value	Type
low complexity region	73	86	N/A	INTRINSIC
Pfam:SH3_1	88	114	8.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000157009

Meta Mutation Damage Score

0.1003

Coding Region Coverage

1x: 99.0%
3x: 97.6%
10x: 93.0%
20x: 79.3%

Validation Efficiency

99% (84/85)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,552,602 (GRCm39)		probably benign	Het
Abcd4	T	G	12: 84,659,126 (GRCm39)	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,445,492 (GRCm39)	G178C	probably damaging	Het
Actl6b	A	G	5: 137,553,327 (GRCm39)	N113S	probably benign	Het
Actn3	A	T	19: 4,921,643 (GRCm39)	V179E	probably damaging	Het
Aff4	C	A	11: 53,306,293 (GRCm39)	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,241,067 (GRCm39)	Q431*	probably null	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Asap3	C	A	4: 135,961,915 (GRCm39)	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,790,248 (GRCm39)	N477S	probably damaging	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
C87436	G	A	6: 86,446,809 (GRCm39)	G533D	probably damaging	Het
Ccdc138	T	A	10: 58,364,182 (GRCm39)	I314N	probably damaging	Het
Ccs	A	G	19: 4,875,654 (GRCm39)	F237S	probably damaging	Het
Ccz1	T	G	5: 143,946,112 (GRCm39)		probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,613,829 (GRCm39)	N531S	probably damaging	Het
Clptm1	A	T	7: 19,368,932 (GRCm39)	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dlg1	G	T	16: 31,676,883 (GRCm39)		probably null	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Ergic3	C	A	2: 155,853,060 (GRCm39)	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Ghrl	A	T	6: 113,694,129 (GRCm39)		probably benign	Het
Gm4787	T	A	12: 81,424,521 (GRCm39)	K546*	probably null	Het
Gm6576	C	G	15: 27,026,086 (GRCm39)		noncoding transcript	Het
Got1	C	T	19: 43,512,816 (GRCm39)	D27N	probably benign	Het
Gucy2c	C	T	6: 136,681,247 (GRCm39)	V946I	probably damaging	Het
Hectd4	T	C	5: 121,487,306 (GRCm39)	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Itpr1	A	G	6: 108,448,170 (GRCm39)		probably benign	Het
Kctd1	G	A	18: 15,107,237 (GRCm39)	P743S	probably benign	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Krt24	T	C	11: 99,171,093 (GRCm39)	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Lipo3	C	T	19: 33,534,506 (GRCm39)		probably null	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k4	T	A	17: 12,466,950 (GRCm39)	D1104V	probably damaging	Het
Mpeg1	T	C	19: 12,438,587 (GRCm39)	V15A	probably benign	Het
Narf	C	T	11: 121,141,662 (GRCm39)	R356C	probably damaging	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Olfm5	G	A	7: 103,810,133 (GRCm39)	A76V	probably benign	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or52p1	A	T	7: 104,267,788 (GRCm39)	I301F	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Palb2	A	T	7: 121,727,389 (GRCm39)	Y160*	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pdcd11	G	A	19: 47,108,301 (GRCm39)	V1223I	probably benign	Het
Pde6c	T	C	19: 38,157,813 (GRCm39)		probably benign	Het
Prr12	A	G	7: 44,699,463 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sfr1	A	G	19: 47,723,457 (GRCm39)	*320W	probably null	Het
Sft2d1rt	A	G	11: 45,943,120 (GRCm39)	M1T	probably null	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,665,693 (GRCm39)	M519V	probably benign	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Spag9	T	A	11: 93,984,365 (GRCm39)	I327N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Unc79	A	G	12: 103,054,693 (GRCm39)		probably benign	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,226,957 (GRCm39)	D19G	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
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
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'- TCCGTGTTAGAGCAGCCAGGAAAC -3'
(R):5'- GGTGCTGAATTCTCAGAGCAGTGAC -3'

Sequencing Primer
(F):5'- CTTCCATCAGGAGCTTGGATAATG -3'
(R):5'- gtgtgtgtgtgtgtctgtg -3'

Posted On

2013-07-24