Mutagenetix > Incidental Mutation

Incidental Mutation 'R3109:Fyn'

263709

Institutional Source

Beutler Lab

Gene Symbol

Fyn

Ensembl Gene

ENSMUSG00000019843

Gene Name

Fyn proto-oncogene

Synonyms

Src Kinase p59

MMRRC Submission

040583-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3109 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39245735-39441377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 39427451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 445 (D445H)

Ref Sequence

ENSEMBL: ENSMUSP00000114188 (fasta)

Gene Model

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

AlphaFold

P39688

Predicted Effect

probably damaging
Transcript: ENSMUST00000063091
AA Change: D445H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057707
Gene: ENSMUSG00000019843
AA Change: D445H

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 damaging
Transcript: ENSMUST00000099967
AA Change: D448H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097547
Gene: ENSMUSG00000019843
AA Change: D448H

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 damaging
Transcript: ENSMUST00000126486
AA Change: D445H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115233
Gene: ENSMUSG00000019843
AA Change: D445H

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 damaging
Transcript: ENSMUST00000135242
AA Change: D445H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117111
Gene: ENSMUSG00000019843
AA Change: D445H

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 damaging
Transcript: ENSMUST00000136659
AA Change: D393H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118131
Gene: ENSMUSG00000019843
AA Change: D393H

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 damaging
Transcript: ENSMUST00000146287
AA Change: D445H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114188
Gene: ENSMUSG00000019843
AA Change: D445H

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

noncoding transcript
Transcript: ENSMUST00000153722

Meta Mutation Damage Score

0.9743

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (33/33)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,284,376 (GRCm39)	E323G	probably damaging	Het
Adamts20	T	C	15: 94,243,785 (GRCm39)		probably benign	Het
Alkbh3	T	C	2: 93,835,108 (GRCm39)	E80G	probably damaging	Het
Amfr	T	C	8: 94,726,934 (GRCm39)	Y93C	probably damaging	Het
Arid2	T	C	15: 96,254,627 (GRCm39)	Y158H	probably damaging	Het
Camk1g	T	C	1: 193,037,301 (GRCm39)	Y133C	probably damaging	Het
Cnnm1	T	C	19: 43,430,000 (GRCm39)	C373R	probably damaging	Het
Cnot1	A	G	8: 96,462,377 (GRCm39)	V1691A	probably damaging	Het
Cubn	T	C	2: 13,367,158 (GRCm39)	S1571G	possibly damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dennd1b	G	A	1: 138,969,654 (GRCm39)		probably benign	Het
Dmrt2	C	A	19: 25,655,055 (GRCm39)	T218N	probably benign	Het
Drd4	T	A	7: 140,872,195 (GRCm39)	V82E	possibly damaging	Het
Fat1	G	A	8: 45,498,210 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,925,586 (GRCm39)	D56G	probably benign	Het
Igkv11-125	T	C	6: 67,890,855 (GRCm39)	F58L	possibly damaging	Het
Klhdc4	A	C	8: 122,548,073 (GRCm39)	H72Q	probably damaging	Het
Kmt2c	A	G	5: 25,480,733 (GRCm39)	Y1459H	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Muc5b	C	T	7: 141,412,496 (GRCm39)	T1814M	unknown	Het
Ntrk3	C	T	7: 78,110,263 (GRCm39)	V324M	probably benign	Het
Or52s1b	T	A	7: 102,822,293 (GRCm39)	M184L	probably damaging	Het
Per2	A	T	1: 91,373,297 (GRCm39)	C164S	probably benign	Het
Ptprn2	A	G	12: 116,839,800 (GRCm39)	D441G	probably benign	Het
Rbl2	T	A	8: 91,828,863 (GRCm39)	I588N	probably benign	Het
Rslcan18	C	T	13: 67,246,671 (GRCm39)	E314K	possibly damaging	Het
Ubr3	A	T	2: 69,819,184 (GRCm39)	T1325S	probably damaging	Het
Unc45a	A	G	7: 79,981,294 (GRCm39)		probably benign	Het
Vmn1r175	A	G	7: 23,508,393 (GRCm39)	V78A	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
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
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'- AGGGCATAATTCATCGCCAC -3'
(R):5'- CCCTGGCTAAATACCTTGGC -3'

Sequencing Primer
(F):5'- GCATAATTCATCGCCACACCCG -3'
(R):5'- CCTGGCTAAATACCTTGGCAGAAG -3'

Posted On

2015-02-05