Incidental Mutation 'IGL02201:Fgr'
ID |
284195 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fgr
|
Ensembl Gene |
ENSMUSG00000028874 |
Gene Name |
FGR proto-oncogene, Src family tyrosine kinase |
Synonyms |
Ali18, Mhdaali18 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
IGL02201
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
132701406-132729204 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 132722235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 168
(Y168F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030693]
[ENSMUST00000171223]
|
AlphaFold |
P14234 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030693
AA Change: Y168F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030693 Gene: ENSMUSG00000028874 AA Change: Y168F
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 |
noncoding transcript
Transcript: ENSMUST00000138179
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171223
AA Change: Y168F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128411 Gene: ENSMUSG00000028874 AA Change: Y168F
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 |
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl3 |
G |
A |
1: 78,676,870 (GRCm39) |
G484R |
probably damaging |
Het |
Adgrb3 |
A |
G |
1: 25,459,631 (GRCm39) |
|
probably benign |
Het |
Akr1c14 |
A |
G |
13: 4,131,022 (GRCm39) |
D238G |
probably damaging |
Het |
Ccdc88b |
T |
A |
19: 6,823,999 (GRCm39) |
D1418V |
probably damaging |
Het |
Cnnm4 |
A |
T |
1: 36,511,831 (GRCm39) |
K353M |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,658,194 (GRCm39) |
F673L |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dyrk1a |
A |
G |
16: 94,493,008 (GRCm39) |
E747G |
probably benign |
Het |
Eml5 |
T |
A |
12: 98,760,683 (GRCm39) |
|
probably benign |
Het |
Ercc6l2 |
A |
G |
13: 64,000,783 (GRCm39) |
N516D |
probably benign |
Het |
Fbxl17 |
A |
G |
17: 63,806,024 (GRCm39) |
L330P |
probably damaging |
Het |
Frem2 |
T |
G |
3: 53,427,061 (GRCm39) |
K2962N |
probably benign |
Het |
Hdac4 |
G |
T |
1: 91,915,382 (GRCm39) |
|
probably null |
Het |
Il1r1 |
A |
T |
1: 40,352,428 (GRCm39) |
N533Y |
probably damaging |
Het |
Kcnab2 |
T |
C |
4: 152,486,375 (GRCm39) |
|
probably benign |
Het |
Knl1 |
C |
T |
2: 118,899,633 (GRCm39) |
P445S |
probably benign |
Het |
Lamb2 |
G |
A |
9: 108,364,741 (GRCm39) |
C1165Y |
probably damaging |
Het |
Nisch |
C |
T |
14: 30,909,051 (GRCm39) |
|
probably benign |
Het |
Or1i2 |
C |
T |
10: 78,448,104 (GRCm39) |
V124M |
probably damaging |
Het |
Or2m12 |
A |
T |
16: 19,105,212 (GRCm39) |
S94T |
probably benign |
Het |
Or8b40 |
A |
G |
9: 38,027,893 (GRCm39) |
D267G |
probably benign |
Het |
Or8h7 |
A |
G |
2: 86,721,420 (GRCm39) |
L33P |
probably damaging |
Het |
Pde3b |
T |
A |
7: 114,133,843 (GRCm39) |
M953K |
probably damaging |
Het |
Pdzph1 |
A |
G |
17: 59,274,506 (GRCm39) |
|
probably benign |
Het |
Plce1 |
T |
C |
19: 38,757,890 (GRCm39) |
|
probably benign |
Het |
Prr23a3 |
G |
T |
9: 98,747,297 (GRCm39) |
V84L |
possibly damaging |
Het |
Psg26 |
A |
G |
7: 18,214,071 (GRCm39) |
V197A |
probably benign |
Het |
Ptpra |
T |
A |
2: 30,336,389 (GRCm39) |
C80S |
possibly damaging |
Het |
Ripk4 |
A |
T |
16: 97,556,377 (GRCm39) |
V122E |
possibly damaging |
Het |
Scd2 |
A |
G |
19: 44,289,779 (GRCm39) |
N258S |
probably damaging |
Het |
Slc38a1 |
A |
T |
15: 96,476,679 (GRCm39) |
V394E |
probably damaging |
Het |
Slc7a15 |
A |
G |
12: 8,589,023 (GRCm39) |
S175P |
possibly damaging |
Het |
Tacc2 |
T |
A |
7: 130,227,942 (GRCm39) |
D1542E |
possibly damaging |
Het |
Trim67 |
G |
T |
8: 125,520,797 (GRCm39) |
R53L |
probably benign |
Het |
Urah |
A |
T |
7: 140,415,576 (GRCm39) |
T38S |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,874,418 (GRCm39) |
S3362G |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,734,978 (GRCm39) |
|
probably benign |
Het |
Zfyve28 |
T |
C |
5: 34,400,549 (GRCm39) |
T50A |
probably damaging |
Het |
|
Other mutations in Fgr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R6947:Fgr
|
UTSW |
4 |
132,722,380 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
Posted On |
2015-04-16 |