Incidental Mutation 'R6157:Fer'
ID |
489667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer
|
Ensembl Gene |
ENSMUSG00000000127 |
Gene Name |
FER tyrosine kinase |
Synonyms |
C330004K01Rik, Fert, Fert2 |
MMRRC Submission |
044304-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6157 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
64170057-64446491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64385880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 654
(K654R)
|
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: K654R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000000129 Gene: ENSMUSG00000000127 AA Change: K654R
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: K284R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037418 Gene: ENSMUSG00000000127 AA Change: K284R
Domain | Start | End | E-Value | Type |
SH2
|
89 |
168 |
5.9e-30 |
SMART |
TyrKc
|
194 |
445 |
6.69e-148 |
SMART |
|
Meta Mutation Damage Score |
0.1251 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
Validation Efficiency |
93% (40/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,947,617 (GRCm39) |
K505E |
possibly damaging |
Het |
Abcb1b |
A |
T |
5: 8,874,245 (GRCm39) |
N390I |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,056,077 (GRCm39) |
M1520L |
probably benign |
Het |
Atg4c |
C |
T |
4: 99,123,400 (GRCm39) |
R396* |
probably null |
Het |
Atp2a3 |
G |
A |
11: 72,871,442 (GRCm39) |
V648M |
probably damaging |
Het |
Blm |
T |
C |
7: 80,162,733 (GRCm39) |
D203G |
probably benign |
Het |
Csrnp3 |
A |
T |
2: 65,779,363 (GRCm39) |
D13V |
probably damaging |
Het |
Dnajc10 |
A |
T |
2: 80,147,735 (GRCm39) |
|
probably benign |
Het |
Dst |
A |
G |
1: 34,250,253 (GRCm39) |
Y1729C |
probably damaging |
Het |
Dynlt2b |
G |
A |
16: 32,238,660 (GRCm39) |
A12T |
possibly damaging |
Het |
Ecsit |
T |
C |
9: 21,985,987 (GRCm39) |
Y213C |
probably damaging |
Het |
Hdac9 |
G |
T |
12: 34,439,428 (GRCm39) |
A383E |
probably damaging |
Het |
Hltf |
T |
A |
3: 20,130,660 (GRCm39) |
S293T |
probably benign |
Het |
Hydin |
T |
A |
8: 111,254,648 (GRCm39) |
D2359E |
probably benign |
Het |
Inf2 |
A |
G |
12: 112,571,222 (GRCm39) |
|
probably benign |
Het |
Kcns2 |
A |
G |
15: 34,839,504 (GRCm39) |
N289S |
possibly damaging |
Het |
Meioc |
T |
C |
11: 102,559,227 (GRCm39) |
S50P |
probably damaging |
Het |
Mocs1 |
G |
T |
17: 49,761,764 (GRCm39) |
E619D |
probably benign |
Het |
Nfatc2 |
A |
G |
2: 168,361,371 (GRCm39) |
|
probably benign |
Het |
Or51i1 |
T |
A |
7: 103,671,105 (GRCm39) |
N140I |
possibly damaging |
Het |
Pag1 |
A |
T |
3: 9,758,896 (GRCm39) |
H407Q |
probably benign |
Het |
Plaat1 |
A |
G |
16: 29,036,501 (GRCm39) |
I46M |
possibly damaging |
Het |
Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
Pld4 |
C |
T |
12: 112,734,535 (GRCm39) |
T432I |
probably damaging |
Het |
Psd3 |
T |
G |
8: 68,574,179 (GRCm39) |
M1L |
probably benign |
Het |
Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
Ripor2 |
T |
C |
13: 24,885,052 (GRCm39) |
L390P |
probably damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,349,631 (GRCm39) |
E6D |
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,672,244 (GRCm39) |
L1409Q |
probably damaging |
Het |
Slc6a5 |
A |
G |
7: 49,601,250 (GRCm39) |
T684A |
probably benign |
Het |
Smpd4 |
G |
T |
16: 17,458,930 (GRCm39) |
|
probably null |
Het |
Snx18 |
T |
C |
13: 113,753,725 (GRCm39) |
S403G |
probably damaging |
Het |
Spsb4 |
G |
T |
9: 96,878,160 (GRCm39) |
H54Q |
probably damaging |
Het |
Ssrp1 |
A |
G |
2: 84,871,072 (GRCm39) |
Y236C |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,751,843 (GRCm39) |
S982N |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,675,749 (GRCm39) |
S776P |
probably damaging |
Het |
Tln1 |
G |
A |
4: 43,534,744 (GRCm39) |
P2166S |
probably benign |
Het |
Ufl1 |
T |
A |
4: 25,279,350 (GRCm39) |
Q83L |
possibly damaging |
Het |
Unc80 |
A |
T |
1: 66,693,188 (GRCm39) |
K2458* |
probably null |
Het |
Ush2a |
A |
T |
1: 188,460,467 (GRCm39) |
Y2576F |
probably benign |
Het |
Xrcc6 |
C |
A |
15: 81,913,305 (GRCm39) |
|
probably null |
Het |
Zbtb48 |
A |
G |
4: 152,106,064 (GRCm39) |
F380L |
probably damaging |
Het |
Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
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 |
|
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 |
PCR Primer
(F):5'- TGTCCTCAGTTGGAAACTTGG -3'
(R):5'- GAGCTAGAAACAATGCTTTCACAC -3'
Sequencing Primer
(F):5'- TCCTCAGTTGGAAACTTGGACAAAG -3'
(R):5'- ACGGAAGGAGTCTATTGTAGCATTCC -3'
|
Posted On |
2017-10-10 |