Incidental Mutation 'R8246:Fyn'
| ID |
640766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fyn
|
| Ensembl Gene |
ENSMUSG00000019843 |
| Gene Name |
Fyn proto-oncogene |
| Synonyms |
Src Kinase p59 |
| MMRRC Submission |
067852-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
39245735-39441377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39405525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 264
(W264R)
|
| 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 damaging
Transcript: ENSMUST00000099967
AA Change: W264R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097547
Gene: ENSMUSG00000019843
AA Change: W264R
| 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
|
| 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 |
0.9319 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
C |
A |
7: 80,742,524 (GRCm39) |
D780E |
probably benign |
Het |
| Anln |
A |
C |
9: 22,262,251 (GRCm39) |
S947A |
probably benign |
Het |
| Borcs6 |
C |
T |
11: 68,951,377 (GRCm39) |
P252S |
probably benign |
Het |
| Ccdc42 |
C |
A |
11: 68,478,122 (GRCm39) |
Q28K |
probably benign |
Het |
| Cp |
A |
G |
3: 20,029,186 (GRCm39) |
I554M |
probably damaging |
Het |
| Dnm3 |
T |
G |
1: 162,135,486 (GRCm39) |
D429A |
probably damaging |
Het |
| Dok5 |
A |
G |
2: 170,642,813 (GRCm39) |
K37R |
probably benign |
Het |
| Dtwd2 |
A |
T |
18: 49,831,492 (GRCm39) |
Y268N |
probably benign |
Het |
| Eif3a |
T |
C |
19: 60,767,806 (GRCm39) |
E244G |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,496,966 (GRCm39) |
V810A |
probably benign |
Het |
| Fam149a |
T |
C |
8: 45,834,655 (GRCm39) |
E48G |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,838,428 (GRCm39) |
E2605D |
unknown |
Het |
| Fhip1b |
T |
C |
7: 105,038,867 (GRCm39) |
E124G |
probably damaging |
Het |
| Gm10024 |
T |
A |
10: 77,547,369 (GRCm39) |
S27T |
unknown |
Het |
| Gpr157 |
C |
T |
4: 150,186,753 (GRCm39) |
L294F |
possibly damaging |
Het |
| Kif6 |
C |
T |
17: 50,065,542 (GRCm39) |
Q506* |
probably null |
Het |
| Klrh1 |
A |
G |
6: 129,752,339 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,451,242 (GRCm39) |
K707R |
possibly damaging |
Het |
| Mcub |
C |
A |
3: 129,708,814 (GRCm39) |
V328L |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,657,284 (GRCm39) |
P12S |
probably benign |
Het |
| Mrgprb3 |
T |
G |
7: 48,293,268 (GRCm39) |
L94F |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,392,640 (GRCm39) |
P3307Q |
probably damaging |
Het |
| Nol8 |
T |
G |
13: 49,808,724 (GRCm39) |
|
probably benign |
Het |
| Or11g2 |
A |
G |
14: 50,855,841 (GRCm39) |
Y54C |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,790,483 (GRCm39) |
I312V |
probably benign |
Het |
| Pax5 |
T |
C |
4: 44,570,027 (GRCm39) |
H286R |
probably benign |
Het |
| Rmdn2 |
T |
A |
17: 79,979,966 (GRCm39) |
C381* |
probably null |
Het |
| Rpusd4 |
A |
G |
9: 35,183,876 (GRCm39) |
I202V |
probably benign |
Het |
| Shank3 |
A |
T |
15: 89,417,549 (GRCm39) |
R49W |
possibly damaging |
Het |
| Smurf2 |
T |
C |
11: 106,721,870 (GRCm39) |
T542A |
probably benign |
Het |
| Sorcs2 |
G |
A |
5: 36,219,932 (GRCm39) |
R371C |
probably damaging |
Het |
| Sqstm1 |
T |
C |
11: 50,101,388 (GRCm39) |
H66R |
probably damaging |
Het |
| Stard8 |
C |
T |
X: 98,109,570 (GRCm39) |
S155L |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,091,889 (GRCm39) |
V1582D |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,427,156 (GRCm39) |
M331V |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,042 (GRCm39) |
S368G |
probably damaging |
Het |
| Tmem184c |
A |
T |
8: 78,336,814 (GRCm39) |
I14N |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,985,941 (GRCm39) |
*911W |
probably null |
Het |
| Unc13b |
T |
C |
4: 43,175,954 (GRCm39) |
F2261L |
unknown |
Het |
| Vps16 |
G |
C |
2: 130,280,793 (GRCm39) |
G241R |
probably damaging |
Het |
| Ythdc1 |
C |
T |
5: 86,965,181 (GRCm39) |
T292I |
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 |
|
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 |
|
|
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'- CTCATGTGCGTCGAATCTCC -3'
(R):5'- ACAGCTGTAGTTCTTGCCTG -3'
Sequencing Primer
(F):5'- GTCGAATCTCCTGTGGCCTG -3'
(R):5'- CAGCTGTAGTTCTTGCCTGTTTCTAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation