Incidental Mutation 'R5724:Fer'
| ID |
452407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer
|
| Ensembl Gene |
ENSMUSG00000000127 |
| Gene Name |
FER tyrosine kinase |
| Synonyms |
C330004K01Rik, Fert, Fert2 |
| MMRRC Submission |
043342-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5724 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64170057-64446491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 64231152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 301
(T301K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000129]
|
| AlphaFold |
P70451 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000129
AA Change: T301K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: T301K
| 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 |
|
| Meta Mutation Damage Score |
0.2245 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3830408C21Rik |
A |
T |
13: 107,168,905 (GRCm39) |
|
noncoding transcript |
Het |
| Adam5 |
T |
A |
8: 25,294,511 (GRCm39) |
K363* |
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,286,836 (GRCm39) |
Y814H |
probably benign |
Het |
| Adar |
G |
T |
3: 89,642,476 (GRCm39) |
G119V |
probably benign |
Het |
| Adprs |
G |
T |
4: 126,211,869 (GRCm39) |
Q148K |
probably damaging |
Het |
| Atr |
G |
T |
9: 95,748,641 (GRCm39) |
L395F |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,192 (GRCm39) |
I1946V |
possibly damaging |
Het |
| Bend4 |
T |
A |
5: 67,575,284 (GRCm39) |
D199V |
probably damaging |
Het |
| Bpifb1 |
C |
A |
2: 154,046,712 (GRCm39) |
H77Q |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,714,833 (GRCm39) |
T595A |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,905,499 (GRCm39) |
|
probably benign |
Het |
| Cxcl16 |
T |
C |
11: 70,349,990 (GRCm39) |
D12G |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,819,090 (GRCm39) |
W459R |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,099,785 (GRCm39) |
L636P |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,853,824 (GRCm39) |
T197A |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,692 (GRCm39) |
R139S |
probably benign |
Het |
| Fgf21 |
A |
T |
7: 45,264,729 (GRCm39) |
M1K |
probably null |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm38706 |
A |
T |
6: 130,459,963 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
C |
17: 35,644,628 (GRCm39) |
Y139S |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,808,074 (GRCm39) |
D146G |
probably benign |
Het |
| Igkv4-53 |
A |
T |
6: 69,625,991 (GRCm39) |
Y59N |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,891 (GRCm39) |
M257V |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Klhl26 |
T |
A |
8: 70,904,404 (GRCm39) |
Y468F |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,357,950 (GRCm39) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,464,422 (GRCm39) |
T548A |
probably benign |
Het |
| Lct |
T |
A |
1: 128,228,073 (GRCm39) |
Q1140L |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,281,726 (GRCm39) |
N3882H |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,657,852 (GRCm39) |
I1126T |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,722,682 (GRCm39) |
S399P |
probably damaging |
Het |
| Med16 |
A |
G |
10: 79,731,243 (GRCm39) |
C825R |
probably damaging |
Het |
| Mtx3 |
C |
T |
13: 92,984,095 (GRCm39) |
P124L |
probably damaging |
Het |
| Nabp2 |
C |
T |
10: 128,245,555 (GRCm39) |
|
probably benign |
Het |
| Or5b113 |
T |
A |
19: 13,342,515 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Pak4 |
A |
T |
7: 28,264,005 (GRCm39) |
S244T |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,869,900 (GRCm39) |
V307I |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,233 (GRCm39) |
D506G |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,755,481 (GRCm39) |
V26A |
probably damaging |
Het |
| Ppp2r3c |
A |
T |
12: 55,344,617 (GRCm39) |
M117K |
probably benign |
Het |
| Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
| Pspc1 |
C |
T |
14: 57,015,529 (GRCm39) |
E30K |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,990,231 (GRCm39) |
S448G |
possibly damaging |
Het |
| Rnf34 |
C |
T |
5: 123,004,952 (GRCm39) |
Q241* |
probably null |
Het |
| Sgta |
A |
T |
10: 80,883,522 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Siglech |
A |
G |
7: 55,418,293 (GRCm39) |
N87S |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,094,113 (GRCm39) |
I392T |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,841,174 (GRCm39) |
M21K |
probably benign |
Het |
| Sugp1 |
C |
T |
8: 70,522,799 (GRCm39) |
R500C |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,899,339 (GRCm39) |
K5E |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,813,668 (GRCm39) |
V235I |
possibly damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,346 (GRCm39) |
N413I |
probably damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Zfp60 |
A |
G |
7: 27,447,758 (GRCm39) |
Y142C |
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 |
|
|
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'- CCTTTGGTATGCACTGCGA -3'
(R):5'- CAAAATGACTCTGCCACTAAGTACT -3'
Sequencing Primer
(F):5'- TGCACTGCGATAGATTATGCTAG -3'
(R):5'- CTATGTTCCCAGCACTGAGAGTAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation