Incidental Mutation 'R7949:Fer'
ID |
649485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer
|
Ensembl Gene |
ENSMUSG00000000127 |
Gene Name |
FER tyrosine kinase |
Synonyms |
C330004K01Rik, Fert, Fert2 |
MMRRC Submission |
045994-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7949 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
64170057-64446491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 64440503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 707
(S707T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000129]
[ENSMUST00000038080]
|
AlphaFold |
P70451 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000129
AA Change: S707T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000000129 Gene: ENSMUSG00000000127 AA Change: S707T
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 damaging
Transcript: ENSMUST00000038080
AA Change: S337T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037418 Gene: ENSMUSG00000000127 AA Change: S337T
Domain | Start | End | E-Value | Type |
SH2
|
89 |
168 |
5.9e-30 |
SMART |
TyrKc
|
194 |
445 |
6.69e-148 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (47/47) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
G |
A |
13: 81,303,353 (GRCm39) |
T6111M |
probably damaging |
Het |
Adprhl1 |
T |
G |
8: 13,274,225 (GRCm39) |
R844S |
possibly damaging |
Het |
Aldh1b1 |
A |
G |
4: 45,802,807 (GRCm39) |
E115G |
possibly damaging |
Het |
Anp32a |
A |
G |
9: 62,280,948 (GRCm39) |
E170G |
unknown |
Het |
Arhgap27 |
A |
G |
11: 103,228,595 (GRCm39) |
S349P |
probably damaging |
Het |
Asns |
T |
A |
6: 7,685,328 (GRCm39) |
I110F |
probably damaging |
Het |
Atad3a |
T |
C |
4: 155,833,152 (GRCm39) |
H437R |
possibly damaging |
Het |
Atl2 |
C |
A |
17: 80,167,289 (GRCm39) |
R244L |
probably damaging |
Het |
Bcl2l14 |
A |
T |
6: 134,407,083 (GRCm39) |
D222V |
probably damaging |
Het |
Ccdc102a |
G |
T |
8: 95,631,913 (GRCm39) |
Q498K |
probably damaging |
Het |
Cdc14b |
T |
C |
13: 64,338,212 (GRCm39) |
|
probably null |
Het |
Cdcp3 |
G |
A |
7: 130,895,324 (GRCm39) |
|
probably null |
Het |
Cep162 |
T |
A |
9: 87,088,901 (GRCm39) |
M994L |
probably benign |
Het |
Ddx18 |
A |
G |
1: 121,483,047 (GRCm39) |
Y580H |
probably damaging |
Het |
Entpd6 |
C |
A |
2: 150,612,197 (GRCm39) |
|
probably null |
Het |
Gabra6 |
A |
G |
11: 42,207,826 (GRCm39) |
V215A |
probably benign |
Het |
Gm20671 |
A |
G |
5: 32,977,288 (GRCm39) |
V142A |
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,250,253 (GRCm39) |
N1439K |
probably benign |
Het |
Igbp1b |
T |
C |
6: 138,635,414 (GRCm39) |
K10R |
probably benign |
Het |
Ighv5-8 |
TATATATATATATATATATATATA |
TATATATATATATATATATATATATA |
12: 113,618,563 (GRCm39) |
|
probably null |
Het |
Igkv12-44 |
A |
T |
6: 69,791,874 (GRCm39) |
S30T |
probably benign |
Het |
Immt |
A |
T |
6: 71,851,327 (GRCm39) |
R563* |
probably null |
Het |
Jakmip1 |
A |
T |
5: 37,339,492 (GRCm39) |
Q1231L |
probably damaging |
Het |
Jsrp1 |
T |
C |
10: 80,647,906 (GRCm39) |
T51A |
probably benign |
Het |
Krtap31-1 |
A |
G |
11: 99,799,144 (GRCm39) |
T116A |
possibly damaging |
Het |
Lrp8 |
T |
A |
4: 107,660,524 (GRCm39) |
D61E |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,262,081 (GRCm39) |
D311G |
probably benign |
Het |
Men1 |
C |
T |
19: 6,388,323 (GRCm39) |
S314L |
possibly damaging |
Het |
Nxpe2 |
T |
C |
9: 48,234,397 (GRCm39) |
N290S |
possibly damaging |
Het |
Or2f2 |
T |
C |
6: 42,767,588 (GRCm39) |
V205A |
possibly damaging |
Het |
Or5b105 |
T |
A |
19: 13,080,610 (GRCm39) |
|
probably null |
Het |
Pcolce2 |
A |
T |
9: 95,576,688 (GRCm39) |
T320S |
probably benign |
Het |
Phc2 |
C |
T |
4: 128,603,401 (GRCm39) |
T177M |
probably damaging |
Het |
Phf21b |
G |
T |
15: 84,676,036 (GRCm39) |
P337H |
probably damaging |
Het |
Pinlyp |
G |
T |
7: 24,245,375 (GRCm39) |
T15K |
probably damaging |
Het |
Ppox |
A |
T |
1: 171,105,521 (GRCm39) |
S307R |
probably benign |
Het |
Ptk7 |
T |
A |
17: 46,897,387 (GRCm39) |
E315V |
possibly damaging |
Het |
Pxk |
T |
C |
14: 8,144,233 (GRCm38) |
I327T |
probably damaging |
Het |
Rabgap1 |
A |
T |
2: 37,453,491 (GRCm39) |
K973I |
probably benign |
Het |
Rbbp8 |
A |
T |
18: 11,851,892 (GRCm39) |
I238L |
probably benign |
Het |
Runx2 |
T |
A |
17: 45,046,442 (GRCm39) |
D109V |
possibly damaging |
Het |
Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
Slco1a8 |
C |
A |
6: 141,939,991 (GRCm39) |
G171C |
probably damaging |
Het |
Sptlc3 |
T |
C |
2: 139,467,795 (GRCm39) |
I451T |
possibly damaging |
Het |
Sugp1 |
A |
T |
8: 70,509,153 (GRCm39) |
Y142F |
possibly damaging |
Het |
Sumf2 |
T |
C |
5: 129,881,759 (GRCm39) |
F98S |
probably damaging |
Het |
Tmem120a |
C |
T |
5: 135,771,220 (GRCm39) |
E39K |
possibly damaging |
Het |
Tnxb |
C |
T |
17: 34,936,103 (GRCm39) |
P2680L |
probably damaging |
Het |
Zfp78 |
C |
G |
7: 6,382,365 (GRCm39) |
R472G |
possibly 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 |
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 |
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 |
PCR Primer
(F):5'- CGATTCTTACCTGTGACAGAATTG -3'
(R):5'- TTACCCCAGCCACACTTGTG -3'
Sequencing Primer
(F):5'- GTCTGGTAAATCACAAGCACTCTTC -3'
(R):5'- GAGTGCTTCGTGCTGATCCAG -3'
|
Posted On |
2020-09-15 |