Incidental Mutation 'R6947:Fgr'
ID |
540920 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgr
|
Ensembl Gene |
ENSMUSG00000028874 |
Gene Name |
FGR proto-oncogene, Src family tyrosine kinase |
Synonyms |
Ali18, Mhdaali18 |
MMRRC Submission |
045060-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
R6947 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
132701406-132729204 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 132722380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030693]
[ENSMUST00000171223]
|
AlphaFold |
P14234 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030693
|
SMART Domains |
Protein: ENSMUSP00000030693 Gene: ENSMUSG00000028874
Domain | Start | End | E-Value | Type |
SH3
|
68 |
125 |
5.39e-22 |
SMART |
SH2
|
130 |
220 |
5.25e-36 |
SMART |
TyrKc
|
251 |
500 |
5.5e-126 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171223
|
SMART Domains |
Protein: ENSMUSP00000128411 Gene: ENSMUSG00000028874
Domain | Start | End | E-Value | Type |
SH3
|
68 |
125 |
5.39e-22 |
SMART |
SH2
|
130 |
220 |
5.25e-36 |
SMART |
TyrKc
|
251 |
500 |
5.5e-126 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.0%
|
Validation Efficiency |
100% (46/46) |
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 Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a partial reduction in hemorrhage following induction of a local Shwartzman reaction, and show enhanced NK-cell receptor-induced IFN-gamma production in natural killer (NK) cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
C |
A |
9: 90,073,857 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,015,848 (GRCm39) |
T414A |
possibly damaging |
Het |
Bop1 |
A |
G |
15: 76,338,188 (GRCm39) |
F561L |
probably damaging |
Het |
Ccdc18 |
T |
C |
5: 108,309,401 (GRCm39) |
V332A |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,365,918 (GRCm39) |
T1042A |
probably damaging |
Het |
Cnot8 |
G |
T |
11: 58,008,331 (GRCm39) |
V266L |
probably benign |
Het |
Cxxc4 |
C |
T |
3: 133,946,277 (GRCm39) |
S286F |
possibly damaging |
Het |
Cyp2d12 |
A |
T |
15: 82,443,248 (GRCm39) |
I386L |
probably benign |
Het |
Dgka |
A |
T |
10: 128,568,884 (GRCm39) |
I227N |
probably damaging |
Het |
Eif2d |
T |
C |
1: 131,092,404 (GRCm39) |
V354A |
probably benign |
Het |
Idnk |
A |
G |
13: 58,308,055 (GRCm39) |
|
probably null |
Het |
Kmt2e |
T |
C |
5: 23,702,543 (GRCm39) |
S952P |
probably damaging |
Het |
Kng1 |
A |
G |
16: 22,896,124 (GRCm39) |
H343R |
probably benign |
Het |
Lgals8 |
G |
A |
13: 12,469,682 (GRCm39) |
|
probably benign |
Het |
Lrit3 |
T |
A |
3: 129,582,883 (GRCm39) |
Q368L |
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,273,592 (GRCm39) |
T24S |
probably benign |
Het |
Map3k4 |
G |
A |
17: 12,479,456 (GRCm39) |
Q704* |
probably null |
Het |
Mcm3ap |
A |
G |
10: 76,351,500 (GRCm39) |
I1948V |
probably benign |
Het |
Mettl25 |
A |
G |
10: 105,662,053 (GRCm39) |
F306L |
probably benign |
Het |
Mos |
A |
C |
4: 3,871,585 (GRCm39) |
V77G |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,596,177 (GRCm39) |
R3130C |
possibly damaging |
Het |
Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
Or1p4-ps1 |
C |
T |
11: 74,208,370 (GRCm39) |
S173L |
unknown |
Het |
Or5m10b |
T |
C |
2: 85,699,271 (GRCm39) |
F112L |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,577,021 (GRCm39) |
|
probably null |
Het |
Pde10a |
T |
A |
17: 9,188,424 (GRCm39) |
I908N |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,228,075 (GRCm39) |
K1058R |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,759,383 (GRCm39) |
F548Y |
probably damaging |
Het |
Rad54b |
T |
G |
4: 11,569,859 (GRCm39) |
S58R |
possibly damaging |
Het |
Rbm20 |
G |
A |
19: 53,839,696 (GRCm39) |
G895D |
probably damaging |
Het |
Rgs22 |
T |
C |
15: 36,104,036 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
A |
G |
13: 76,058,785 (GRCm39) |
S338P |
probably benign |
Het |
Ruvbl2 |
A |
G |
7: 45,074,373 (GRCm39) |
|
probably null |
Het |
Slc16a12 |
A |
G |
19: 34,650,007 (GRCm39) |
F343L |
probably benign |
Het |
Slc22a28 |
A |
G |
19: 8,041,875 (GRCm39) |
L444P |
possibly damaging |
Het |
Slc44a4 |
A |
T |
17: 35,147,044 (GRCm39) |
Q358L |
probably null |
Het |
Sowaha |
A |
G |
11: 53,369,225 (GRCm39) |
F504L |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,125,789 (GRCm39) |
L6035P |
probably damaging |
Het |
Thbs2 |
A |
T |
17: 14,910,029 (GRCm39) |
M190K |
possibly damaging |
Het |
Tmem171 |
A |
G |
13: 98,824,950 (GRCm39) |
F227L |
possibly damaging |
Het |
Trp53 |
A |
G |
11: 69,479,307 (GRCm39) |
K162E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,724,732 (GRCm39) |
K2098* |
probably null |
Het |
Usp30 |
T |
C |
5: 114,241,821 (GRCm39) |
S88P |
probably benign |
Het |
Zfp276 |
C |
A |
8: 123,981,643 (GRCm39) |
D63E |
probably benign |
Het |
|
Other mutations in Fgr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02201:Fgr
|
APN |
4 |
132,722,235 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03089:Fgr
|
APN |
4 |
132,713,577 (GRCm39) |
missense |
probably damaging |
0.96 |
R1760:Fgr
|
UTSW |
4 |
132,725,653 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1957:Fgr
|
UTSW |
4 |
132,725,673 (GRCm39) |
missense |
probably benign |
|
R2011:Fgr
|
UTSW |
4 |
132,724,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:Fgr
|
UTSW |
4 |
132,725,786 (GRCm39) |
missense |
probably benign |
0.32 |
R2351:Fgr
|
UTSW |
4 |
132,724,548 (GRCm39) |
missense |
probably damaging |
0.99 |
R2941:Fgr
|
UTSW |
4 |
132,725,734 (GRCm39) |
missense |
probably benign |
|
R3034:Fgr
|
UTSW |
4 |
132,725,807 (GRCm39) |
critical splice donor site |
probably null |
|
R4590:Fgr
|
UTSW |
4 |
132,722,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Fgr
|
UTSW |
4 |
132,714,602 (GRCm39) |
missense |
probably damaging |
0.99 |
R4847:Fgr
|
UTSW |
4 |
132,721,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R5294:Fgr
|
UTSW |
4 |
132,724,811 (GRCm39) |
missense |
probably benign |
0.01 |
R5384:Fgr
|
UTSW |
4 |
132,713,664 (GRCm39) |
critical splice donor site |
probably null |
|
R5388:Fgr
|
UTSW |
4 |
132,722,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R5650:Fgr
|
UTSW |
4 |
132,727,533 (GRCm39) |
missense |
probably benign |
0.13 |
R7651:Fgr
|
UTSW |
4 |
132,722,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R7686:Fgr
|
UTSW |
4 |
132,725,324 (GRCm39) |
missense |
probably benign |
|
R7921:Fgr
|
UTSW |
4 |
132,713,832 (GRCm39) |
splice site |
probably null |
|
R8011:Fgr
|
UTSW |
4 |
132,725,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R8238:Fgr
|
UTSW |
4 |
132,724,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R8742:Fgr
|
UTSW |
4 |
132,724,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R8876:Fgr
|
UTSW |
4 |
132,726,071 (GRCm39) |
intron |
probably benign |
|
R8884:Fgr
|
UTSW |
4 |
132,713,609 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Fgr
|
UTSW |
4 |
132,727,481 (GRCm39) |
missense |
probably benign |
0.23 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTGGGCTCTGGGAATTC -3'
(R):5'- CTTAGGCCTGGAAGCAAGATTAGG -3'
Sequencing Primer
(F):5'- GAATTCCTTTGGGGGCCTCC -3'
(R):5'- CAAGATTAGGAGGCATTGCTTG -3'
|
Posted On |
2018-11-28 |