Incidental Mutation 'IGL02004:Fer'
| ID |
182227 |
| 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 # |
IGL02004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
64170057-64446491 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 64231174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000129]
[ENSMUST00000000129]
[ENSMUST00000000129]
|
| AlphaFold |
P70451 |
| Predicted Effect |
probably null
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 null
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 null
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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
T |
11: 72,082,423 (GRCm39) |
A301E |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,957,984 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,894,698 (GRCm39) |
V36A |
probably damaging |
Het |
| Cnot10 |
A |
T |
9: 114,451,998 (GRCm39) |
F259L |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,680,004 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,817,744 (GRCm39) |
A216T |
probably damaging |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,058 (GRCm39) |
I425V |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,666 (GRCm39) |
V2349D |
probably damaging |
Het |
| Galnt3 |
T |
C |
2: 65,926,270 (GRCm39) |
T313A |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,735 (GRCm39) |
R37W |
probably damaging |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,928 (GRCm39) |
L12* |
probably null |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Kit |
T |
A |
5: 75,781,674 (GRCm39) |
S368T |
probably benign |
Het |
| Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
| Mpped1 |
C |
A |
15: 83,684,357 (GRCm39) |
S126R |
probably damaging |
Het |
| Myh15 |
A |
C |
16: 48,930,892 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
A |
8: 67,943,878 (GRCm39) |
E85K |
probably benign |
Het |
| Or9q1 |
T |
C |
19: 13,805,427 (GRCm39) |
D111G |
possibly damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,852 (GRCm39) |
M664L |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,246 (GRCm39) |
D1147G |
probably benign |
Het |
| Pth1r |
G |
T |
9: 110,571,376 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Slc39a7 |
A |
C |
17: 34,250,095 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,291,286 (GRCm39) |
T520A |
probably benign |
Het |
| St3gal2 |
C |
A |
8: 111,696,804 (GRCm39) |
A317E |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,817,236 (GRCm39) |
L139F |
possibly damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,776 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,499 (GRCm39) |
I68V |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,780,589 (GRCm39) |
N1326K |
possibly damaging |
Het |
| Tvp23b |
G |
A |
11: 62,782,826 (GRCm39) |
C174Y |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,402,975 (GRCm39) |
D591G |
probably benign |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation