Incidental Mutation 'R4607:Fes'
| ID |
346077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fes
|
| Ensembl Gene |
ENSMUSG00000053158 |
| Gene Name |
feline sarcoma oncogene |
| Synonyms |
c-fes |
| MMRRC Submission |
041818-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4607 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80027504-80037694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80036959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 42
(R42W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080932]
[ENSMUST00000107362]
[ENSMUST00000120753]
[ENSMUST00000122232]
[ENSMUST00000205617]
[ENSMUST00000206744]
[ENSMUST00000206728]
[ENSMUST00000206698]
[ENSMUST00000206479]
[ENSMUST00000206539]
|
| AlphaFold |
P16879 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080932
AA Change: R42W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158
AA Change: R42W
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
2.22e-26 |
SMART |
|
coiled coil region
|
133 |
165 |
N/A |
INTRINSIC |
|
coiled coil region
|
320 |
344 |
N/A |
INTRINSIC |
|
SH2
|
458 |
536 |
8.41e-26 |
SMART |
|
TyrKc
|
561 |
814 |
1.57e-144 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107362
|
| SMART Domains |
Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
PDB:1KN6|A
|
27 |
107 |
4e-7 |
PDB |
|
Pfam:Peptidase_S8
|
148 |
436 |
3.2e-62 |
PFAM |
|
Pfam:P_proprotein
|
484 |
570 |
1.3e-33 |
PFAM |
|
FU
|
577 |
620 |
4.67e-5 |
SMART |
|
FU
|
638 |
681 |
2.13e-8 |
SMART |
|
transmembrane domain
|
713 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120753
|
| SMART Domains |
Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:S8_pro-domain
|
33 |
107 |
5.8e-28 |
PFAM |
|
Pfam:Peptidase_S8
|
144 |
427 |
9.1e-51 |
PFAM |
|
Pfam:P_proprotein
|
484 |
570 |
4.4e-32 |
PFAM |
|
FU
|
577 |
620 |
4.67e-5 |
SMART |
|
FU
|
638 |
681 |
2.13e-8 |
SMART |
|
transmembrane domain
|
713 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122232
|
| SMART Domains |
Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
PDB:1KN6|A
|
27 |
107 |
4e-7 |
PDB |
|
Pfam:Peptidase_S8
|
148 |
436 |
3.2e-62 |
PFAM |
|
Pfam:P_proprotein
|
484 |
570 |
1.3e-33 |
PFAM |
|
FU
|
577 |
620 |
4.67e-5 |
SMART |
|
FU
|
638 |
681 |
2.13e-8 |
SMART |
|
transmembrane domain
|
713 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146771
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205617
AA Change: R42W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206271
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206744
AA Change: R42W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206728
AA Change: R42W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206698
AA Change: R42W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206479
AA Change: R42W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206539
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (65/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a null allele show partial in utero lethality, runting, altered hematopoietic homeostasis and macrophage function, skin lesions and susceptibility to bacterial infection. Homozygotes for another null allele show enhanced LPS sensitivity, altered hematopoiesis and larger litter size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
A |
10: 106,802,890 (GRCm39) |
I452F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,128,081 (GRCm39) |
V800G |
probably damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,599,051 (GRCm39) |
Y154F |
probably benign |
Het |
| Bbs10 |
T |
G |
10: 111,136,681 (GRCm39) |
I598S |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Ccnl1 |
C |
T |
3: 65,854,131 (GRCm39) |
|
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,078 (GRCm39) |
I310V |
possibly damaging |
Het |
| Cpeb3 |
A |
G |
19: 37,152,239 (GRCm39) |
S46P |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,650,475 (GRCm39) |
I151T |
possibly damaging |
Het |
| Dsg4 |
C |
T |
18: 20,604,302 (GRCm39) |
T923M |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,853,769 (GRCm39) |
R618L |
probably benign |
Het |
| Erlin1 |
C |
T |
19: 44,051,474 (GRCm39) |
V76M |
probably damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,710 (GRCm39) |
S296N |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,677,170 (GRCm39) |
N226K |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 52,993,728 (GRCm39) |
N374K |
possibly damaging |
Het |
| Fpgt |
G |
A |
3: 154,792,333 (GRCm39) |
Q565* |
probably null |
Het |
| Gm26657 |
C |
A |
4: 56,741,114 (GRCm39) |
H100N |
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,511,075 (GRCm39) |
|
probably null |
Het |
| Gsg1l |
T |
A |
7: 125,557,721 (GRCm39) |
I136F |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,724,192 (GRCm39) |
R350Q |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,263,271 (GRCm39) |
R394Q |
probably damaging |
Het |
| Ipo11 |
A |
G |
13: 107,037,319 (GRCm39) |
S175P |
probably damaging |
Het |
| Klk13 |
C |
A |
7: 43,363,284 (GRCm39) |
C10* |
probably null |
Het |
| Leng8 |
T |
A |
7: 4,147,796 (GRCm39) |
I607N |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,333,030 (GRCm39) |
L68P |
probably damaging |
Het |
| Memo1 |
G |
A |
17: 74,565,456 (GRCm39) |
Q36* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,496,893 (GRCm39) |
E417G |
possibly damaging |
Het |
| Myrf |
G |
T |
19: 10,206,431 (GRCm39) |
D29E |
probably damaging |
Het |
| Nelfcd |
T |
A |
2: 174,264,955 (GRCm39) |
D215E |
probably benign |
Het |
| Nostrin |
G |
A |
2: 69,014,243 (GRCm39) |
V400M |
possibly damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,920 (GRCm39) |
T546A |
probably benign |
Het |
| Or13a24 |
A |
G |
7: 140,154,554 (GRCm39) |
M163V |
probably benign |
Het |
| Or1l4 |
T |
A |
2: 37,092,094 (GRCm39) |
Y280* |
probably null |
Het |
| Or2h2b-ps1 |
A |
T |
17: 37,481,173 (GRCm39) |
V20E |
probably damaging |
Het |
| Or4c114 |
G |
T |
2: 88,904,656 (GRCm39) |
P260T |
probably benign |
Het |
| Or6aa1 |
A |
T |
7: 86,043,718 (GRCm39) |
|
probably null |
Het |
| Or8g32 |
T |
C |
9: 39,306,031 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry6 |
A |
G |
7: 100,587,511 (GRCm39) |
Y283H |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,253,009 (GRCm39) |
N1218I |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,671 (GRCm39) |
N464D |
probably damaging |
Het |
| Pramel52-ps |
G |
T |
5: 94,531,387 (GRCm39) |
R90S |
probably benign |
Het |
| Rdx |
T |
A |
9: 51,980,137 (GRCm39) |
S243R |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,594,196 (GRCm39) |
N66S |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,605,232 (GRCm39) |
R873L |
probably benign |
Het |
| Spata31e3 |
G |
A |
13: 50,399,542 (GRCm39) |
T928I |
possibly damaging |
Het |
| Strc |
T |
A |
2: 121,203,426 (GRCm39) |
I1130F |
probably benign |
Het |
| Tlk2 |
T |
A |
11: 105,145,844 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tmem74 |
G |
T |
15: 43,730,554 (GRCm39) |
T163K |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,511 (GRCm39) |
H53Q |
probably benign |
Het |
| Trbv24 |
T |
C |
6: 41,195,335 (GRCm39) |
|
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,854,021 (GRCm39) |
D307G |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,131,134 (GRCm39) |
R924Q |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,910,651 (GRCm39) |
T681I |
probably benign |
Het |
| Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,305,195 (GRCm39) |
C207* |
probably null |
Het |
| Zfp512b |
C |
A |
2: 181,230,567 (GRCm39) |
R441L |
probably damaging |
Het |
|
| Other mutations in Fes |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01470:Fes
|
APN |
7 |
80,033,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01654:Fes
|
APN |
7 |
80,036,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02350:Fes
|
APN |
7 |
80,033,578 (GRCm39) |
splice site |
probably null |
|
|
IGL02357:Fes
|
APN |
7 |
80,033,578 (GRCm39) |
splice site |
probably null |
|
|
IGL02811:Fes
|
APN |
7 |
80,029,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Fes
|
UTSW |
7 |
80,029,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB019:Fes
|
UTSW |
7 |
80,029,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0112:Fes
|
UTSW |
7 |
80,033,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0114:Fes
|
UTSW |
7 |
80,027,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0143:Fes
|
UTSW |
7 |
80,033,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0786:Fes
|
UTSW |
7 |
80,036,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0863:Fes
|
UTSW |
7 |
80,030,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0918:Fes
|
UTSW |
7 |
80,030,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1167:Fes
|
UTSW |
7 |
80,032,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Fes
|
UTSW |
7 |
80,027,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Fes
|
UTSW |
7 |
80,027,686 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1898:Fes
|
UTSW |
7 |
80,029,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Fes
|
UTSW |
7 |
80,036,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1909:Fes
|
UTSW |
7 |
80,036,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1922:Fes
|
UTSW |
7 |
80,033,734 (GRCm39) |
nonsense |
probably null |
|
|
R2209:Fes
|
UTSW |
7 |
80,030,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2242:Fes
|
UTSW |
7 |
80,031,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3012:Fes
|
UTSW |
7 |
80,036,915 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4608:Fes
|
UTSW |
7 |
80,036,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Fes
|
UTSW |
7 |
80,036,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5516:Fes
|
UTSW |
7 |
80,036,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Fes
|
UTSW |
7 |
80,030,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Fes
|
UTSW |
7 |
80,030,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Fes
|
UTSW |
7 |
80,030,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7401:Fes
|
UTSW |
7 |
80,028,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7408:Fes
|
UTSW |
7 |
80,028,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Fes
|
UTSW |
7 |
80,030,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Fes
|
UTSW |
7 |
80,029,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8261:Fes
|
UTSW |
7 |
80,032,902 (GRCm39) |
missense |
probably null |
1.00 |
|
R8815:Fes
|
UTSW |
7 |
80,033,619 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8903:Fes
|
UTSW |
7 |
80,036,559 (GRCm39) |
unclassified |
probably benign |
|
|
R8936:Fes
|
UTSW |
7 |
80,031,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Fes
|
UTSW |
7 |
80,032,884 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9174:Fes
|
UTSW |
7 |
80,030,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9200:Fes
|
UTSW |
7 |
80,032,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9679:Fes
|
UTSW |
7 |
80,033,050 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Fes
|
UTSW |
7 |
80,027,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGGACTACAGCACATTGTG -3'
(R):5'- TGTCTCCACTGAATGACCCG -3'
Sequencing Primer
(F):5'- CTACAGCACATTGTGGGATAGG -3'
(R):5'- ACTGAATGACCCGGTTTCTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation