Incidental Mutation 'R2427:Fer'
| ID |
476344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer
|
| Ensembl Gene |
ENSMUSG00000000127 |
| Gene Name |
FER tyrosine kinase |
| Synonyms |
C330004K01Rik, Fert, Fert2 |
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
64170057-64446491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64264298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 39
(I39V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000129]
[ENSMUST00000038080]
|
| AlphaFold |
P70451 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000129
|
| SMART Domains |
Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
92 |
1.29e-27 |
SMART |
|
coiled coil region
|
123 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
294 |
N/A |
INTRINSIC |
|
coiled coil region
|
308 |
381 |
N/A |
INTRINSIC |
|
SH2
|
459 |
538 |
5.9e-30 |
SMART |
|
TyrKc
|
564 |
815 |
6.69e-148 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038080
AA Change: I39V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037418
Gene: ENSMUSG00000000127
AA Change: I39V
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
89 |
168 |
5.9e-30 |
SMART |
|
TyrKc
|
194 |
445 |
6.69e-148 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for a targeted mutation exhibit elevated lipopolysaccharide-induced leukocyte adhesion and migration. Mutant cells also exhibit reduced phosphorylation of cortactin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably damaging |
Het |
|
| Other mutations in Fer |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01625:Fer
|
APN |
17 |
64,344,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02004:Fer
|
APN |
17 |
64,231,174 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02103:Fer
|
APN |
17 |
64,445,923 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02157:Fer
|
APN |
17 |
64,445,894 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02217:Fer
|
APN |
17 |
64,445,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02376:Fer
|
APN |
17 |
64,241,341 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02955:Fer
|
APN |
17 |
64,298,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02967:Fer
|
APN |
17 |
64,203,262 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03392:Fer
|
APN |
17 |
64,298,637 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0095:Fer
|
UTSW |
17 |
64,248,321 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0095:Fer
|
UTSW |
17 |
64,248,321 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0207:Fer
|
UTSW |
17 |
64,203,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Fer
|
UTSW |
17 |
64,385,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0309:Fer
|
UTSW |
17 |
64,446,011 (GRCm39) |
makesense |
probably null |
|
|
R0384:Fer
|
UTSW |
17 |
64,231,179 (GRCm39) |
splice site |
probably benign |
|
|
R0634:Fer
|
UTSW |
17 |
64,342,503 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1885:Fer
|
UTSW |
17 |
64,445,909 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1939:Fer
|
UTSW |
17 |
64,280,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Fer
|
UTSW |
17 |
64,298,575 (GRCm39) |
splice site |
probably null |
|
|
R4301:Fer
|
UTSW |
17 |
64,385,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4404:Fer
|
UTSW |
17 |
64,248,284 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4418:Fer
|
UTSW |
17 |
64,336,286 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4812:Fer
|
UTSW |
17 |
64,241,292 (GRCm39) |
missense |
probably benign |
|
|
R5561:Fer
|
UTSW |
17 |
64,344,580 (GRCm39) |
nonsense |
probably null |
|
|
R5724:Fer
|
UTSW |
17 |
64,231,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Fer
|
UTSW |
17 |
64,231,058 (GRCm39) |
missense |
probably benign |
|
|
R6157:Fer
|
UTSW |
17 |
64,385,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Fer
|
UTSW |
17 |
64,298,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7175:Fer
|
UTSW |
17 |
64,231,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7198:Fer
|
UTSW |
17 |
64,228,683 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7438:Fer
|
UTSW |
17 |
64,440,516 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7723:Fer
|
UTSW |
17 |
64,203,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7949:Fer
|
UTSW |
17 |
64,440,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8064:Fer
|
UTSW |
17 |
64,214,418 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8472:Fer
|
UTSW |
17 |
64,280,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9032:Fer
|
UTSW |
17 |
64,228,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9085:Fer
|
UTSW |
17 |
64,228,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9358:Fer
|
UTSW |
17 |
64,280,076 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9452:Fer
|
UTSW |
17 |
64,231,067 (GRCm39) |
missense |
probably benign |
|
|
R9608:Fer
|
UTSW |
17 |
64,214,327 (GRCm39) |
missense |
probably benign |
|
|
R9747:Fer
|
UTSW |
17 |
64,214,376 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation