Incidental Mutation 'R4301:Fer'
| ID |
322434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer
|
| Ensembl Gene |
ENSMUSG00000000127 |
| Gene Name |
FER tyrosine kinase |
| Synonyms |
C330004K01Rik, Fert, Fert2 |
| MMRRC Submission |
041088-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64170057-64446491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 64385905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 292
(L292F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000129]
[ENSMUST00000038080]
|
| AlphaFold |
P70451 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000129
AA Change: L662F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: L662F
| 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: L292F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037418
Gene: ENSMUSG00000000127
AA Change: L292F
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
89 |
168 |
5.9e-30 |
SMART |
|
TyrKc
|
194 |
445 |
6.69e-148 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,377,266 (GRCm39) |
V95D |
probably damaging |
Het |
| Adamtsl2 |
A |
G |
2: 26,977,295 (GRCm39) |
D252G |
probably null |
Het |
| Adgra3 |
T |
C |
5: 50,118,420 (GRCm39) |
R1043G |
possibly damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,237 (GRCm39) |
D562G |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,228 (GRCm39) |
V6A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,718,810 (GRCm39) |
V337A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Crb1 |
A |
G |
1: 139,176,568 (GRCm39) |
S472P |
probably benign |
Het |
| Fam193b |
G |
A |
13: 55,690,417 (GRCm39) |
R740* |
probably null |
Het |
| Gmppa |
G |
A |
1: 75,419,140 (GRCm39) |
R349H |
possibly damaging |
Het |
| Hspa1a |
T |
C |
17: 35,189,482 (GRCm39) |
I474V |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,939,563 (GRCm39) |
S6P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,478,358 (GRCm39) |
S133P |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,216,169 (GRCm39) |
Y294H |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,106 (GRCm39) |
F122I |
possibly damaging |
Het |
| Mypn |
A |
G |
10: 62,954,263 (GRCm39) |
Y124H |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,082,327 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,641,332 (GRCm39) |
|
probably null |
Het |
| Or5a3 |
T |
C |
19: 12,400,081 (GRCm39) |
L136P |
probably damaging |
Het |
| Pgm2 |
G |
A |
5: 64,261,140 (GRCm39) |
W51* |
probably null |
Het |
| Phip |
G |
A |
9: 82,841,766 (GRCm39) |
R48* |
probably null |
Het |
| Piezo2 |
T |
C |
18: 63,217,911 (GRCm39) |
T1075A |
probably damaging |
Het |
| Ppat |
G |
T |
5: 77,076,348 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 43,031,811 (GRCm39) |
E23D |
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,406,517 (GRCm39) |
I169V |
possibly damaging |
Het |
| Rab37 |
T |
A |
11: 115,049,390 (GRCm39) |
D95E |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,627,234 (GRCm39) |
V50A |
probably benign |
Het |
| Siae |
C |
A |
9: 37,545,009 (GRCm39) |
Q335K |
possibly damaging |
Het |
| Snx14 |
A |
T |
9: 88,292,676 (GRCm39) |
I217K |
probably damaging |
Het |
| Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,471 (GRCm39) |
L1143S |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,335,939 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,964,656 (GRCm39) |
S1374P |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,215,802 (GRCm39) |
D266E |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zbtb10 |
A |
T |
3: 9,330,220 (GRCm39) |
Q526L |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,078,018 (GRCm39) |
|
probably benign |
Het |
| Zswim8 |
G |
A |
14: 20,763,977 (GRCm39) |
R449H |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,779,861 (GRCm39) |
V1878A |
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 |
|
R2427:Fer
|
UTSW |
17 |
64,264,298 (GRCm39) |
missense |
probably benign |
|
|
R2504:Fer
|
UTSW |
17 |
64,298,575 (GRCm39) |
splice site |
probably null |
|
|
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 |
PCR Primer
(F):5'- TTGGACAAAGCACTGTGGAAC -3'
(R):5'- GTTTCTGTAGAGCTAGAAACAATGC -3'
Sequencing Primer
(F):5'- GCACTGTGGAACCTAAAGTGCTTC -3'
(R):5'- GTAGAGCTAGAAACAATGCTTTCAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation