Incidental Mutation 'IGL02376:Fer'
| ID |
291133 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fer
|
| Ensembl Gene |
ENSMUSG00000000127 |
| Gene Name |
FER tyrosine kinase |
| Synonyms |
C330004K01Rik, Fert, Fert2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
64170057-64446491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64241341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 327
(E327G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000129]
[ENSMUST00000038080]
|
| AlphaFold |
P70451 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000129
AA Change: E327G
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: E327G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000037418
Gene: ENSMUSG00000000127
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
89 |
168 |
5.9e-30 |
SMART |
|
TyrKc
|
194 |
445 |
6.69e-148 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,815,466 (GRCm39) |
|
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,251,031 (GRCm39) |
E597K |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,236,544 (GRCm39) |
V289A |
probably benign |
Het |
| Akr1d1 |
A |
T |
6: 37,507,220 (GRCm39) |
D14V |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,349,524 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,111,506 (GRCm39) |
T1137A |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,845,140 (GRCm39) |
Q77L |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,867,735 (GRCm39) |
T444A |
probably damaging |
Het |
| Arr3 |
A |
C |
X: 99,658,281 (GRCm39) |
K281Q |
probably damaging |
Het |
| Arrdc2 |
A |
T |
8: 71,291,623 (GRCm39) |
I114N |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,611,727 (GRCm39) |
F1217Y |
probably damaging |
Het |
| C1qtnf1 |
A |
C |
11: 118,338,894 (GRCm39) |
Y188S |
probably benign |
Het |
| Cbx6 |
C |
A |
15: 79,712,500 (GRCm39) |
R309L |
probably benign |
Het |
| Cfap410 |
A |
G |
10: 77,820,388 (GRCm39) |
|
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,128,502 (GRCm39) |
S237P |
probably damaging |
Het |
| Dapk1 |
G |
A |
13: 60,844,208 (GRCm39) |
V76I |
probably benign |
Het |
| Elk4 |
T |
A |
1: 131,942,288 (GRCm39) |
N53K |
probably benign |
Het |
| Epha7 |
A |
C |
4: 28,951,287 (GRCm39) |
T799P |
probably damaging |
Het |
| Exosc2 |
G |
A |
2: 31,569,887 (GRCm39) |
V233M |
possibly damaging |
Het |
| Fam217b |
A |
G |
2: 178,059,366 (GRCm39) |
D3G |
probably benign |
Het |
| Farp1 |
T |
A |
14: 121,510,268 (GRCm39) |
N755K |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,216,844 (GRCm39) |
F1017Y |
possibly damaging |
Het |
| Gabbr2 |
A |
C |
4: 46,684,300 (GRCm39) |
I658S |
probably damaging |
Het |
| Gemin2 |
A |
G |
12: 59,068,506 (GRCm39) |
D195G |
probably benign |
Het |
| Gtf3c1 |
T |
A |
7: 125,268,168 (GRCm39) |
Y875F |
probably benign |
Het |
| Hnrnpr |
G |
A |
4: 136,046,766 (GRCm39) |
G149D |
probably damaging |
Het |
| Krt74 |
A |
C |
15: 101,662,938 (GRCm39) |
|
noncoding transcript |
Het |
| Ltf |
A |
G |
9: 110,858,692 (GRCm39) |
D480G |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,572,103 (GRCm39) |
L206P |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,831,752 (GRCm39) |
M429V |
probably benign |
Het |
| Myh4 |
C |
A |
11: 67,136,554 (GRCm39) |
T444N |
probably benign |
Het |
| Nckap1l |
A |
T |
15: 103,379,658 (GRCm39) |
Y315F |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,350,447 (GRCm39) |
I646T |
probably damaging |
Het |
| Ndufv1 |
T |
C |
19: 4,057,823 (GRCm39) |
|
probably null |
Het |
| Ogdhl |
T |
C |
14: 32,065,275 (GRCm39) |
Y710H |
probably damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,804 (GRCm39) |
I177V |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,062,354 (GRCm39) |
K531R |
possibly damaging |
Het |
| Pax3 |
T |
C |
1: 78,108,929 (GRCm39) |
Y243C |
probably damaging |
Het |
| Pde1a |
A |
G |
2: 79,705,567 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
C |
T |
9: 98,934,405 (GRCm39) |
M813I |
probably benign |
Het |
| Prss42 |
A |
T |
9: 110,632,175 (GRCm39) |
D302V |
possibly damaging |
Het |
| Rad52 |
T |
C |
6: 119,892,191 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,285,789 (GRCm39) |
Y393* |
probably null |
Het |
| Rhbdd3 |
T |
C |
11: 5,053,192 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
C |
T |
7: 110,062,163 (GRCm39) |
G138D |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,870,060 (GRCm39) |
|
probably null |
Het |
| Smg9 |
A |
G |
7: 24,114,455 (GRCm39) |
I265V |
probably benign |
Het |
| Sppl2b |
G |
T |
10: 80,703,432 (GRCm39) |
E565* |
probably null |
Het |
| Stx6 |
T |
A |
1: 155,077,725 (GRCm39) |
V244D |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,571,768 (GRCm39) |
N78D |
probably damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,414,429 (GRCm39) |
I44V |
possibly damaging |
Het |
| Tnnt3 |
C |
T |
7: 142,066,295 (GRCm39) |
T220I |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,557,811 (GRCm39) |
D29798E |
possibly damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,799,981 (GRCm39) |
M281L |
probably benign |
Het |
| Zfp595 |
T |
C |
13: 67,464,514 (GRCm39) |
K586R |
possibly damaging |
Het |
| Zfta |
C |
T |
19: 7,399,741 (GRCm39) |
P496L |
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 |
|
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 |
|
R2427:Fer
|
UTSW |
17 |
64,264,298 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation