Incidental Mutation 'IGL00897:Fos'
| ID |
28692 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fos
|
| Ensembl Gene |
ENSMUSG00000021250 |
| Gene Name |
FBJ osteosarcoma oncogene |
| Synonyms |
D12Rfj1, cFos, c-fos |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
85520664-85524047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85523120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 344
(T344I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021674]
|
| AlphaFold |
P01101 |
| PDB Structure |
Crystal structure of the bZIP heterodimeric complex MafB:cFos bound to DNA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021674
AA Change: T344I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021674
Gene: ENSMUSG00000021250
AA Change: T344I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
BRLZ
|
135 |
199 |
1.77e-15 |
SMART |
|
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140525
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mutants are growth-retarded, most dying perinatally. Survivors have osteopetrosis and abnormal tooth eruption, gametogenesis, hemopoiesis, behavior and photoreceptor apoptosis. Hippocampal-specific mutants have seizures and highly excitable neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,815,348 (GRCm39) |
|
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,502 (GRCm39) |
Y64C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,604,187 (GRCm39) |
E1302D |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,145 (GRCm39) |
I1344T |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,882 (GRCm39) |
I924T |
possibly damaging |
Het |
| Ccnb1 |
A |
G |
13: 100,922,419 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,254,723 (GRCm39) |
D1304G |
probably benign |
Het |
| Ctsq |
C |
A |
13: 61,185,539 (GRCm39) |
V201F |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,990,847 (GRCm39) |
D293N |
probably damaging |
Het |
| Epb41 |
T |
A |
4: 131,727,508 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,078 (GRCm39) |
E1421G |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,526,664 (GRCm39) |
Y873F |
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,264 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,639,836 (GRCm39) |
T846A |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,011 (GRCm39) |
V351A |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,291,921 (GRCm39) |
M846T |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,352,225 (GRCm39) |
F604L |
possibly damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,771 (GRCm39) |
R156L |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,944,619 (GRCm39) |
E379G |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,365,518 (GRCm39) |
L119P |
probably damaging |
Het |
| Neurod2 |
C |
T |
11: 98,218,595 (GRCm39) |
V190M |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,422,727 (GRCm39) |
N371K |
probably benign |
Het |
| Nr1d2 |
A |
T |
14: 18,214,993 (GRCm38) |
C340S |
probably benign |
Het |
| Nsg1 |
A |
T |
5: 38,302,060 (GRCm39) |
V117D |
probably damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,780 (GRCm39) |
D50E |
possibly damaging |
Het |
| Or7e168 |
T |
G |
9: 19,719,917 (GRCm39) |
V101G |
probably damaging |
Het |
| Paqr4 |
T |
C |
17: 23,956,544 (GRCm39) |
D273G |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,813,718 (GRCm39) |
T686A |
probably benign |
Het |
| Ppp1r8 |
G |
A |
4: 132,555,213 (GRCm39) |
A335V |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,634,557 (GRCm39) |
Y65* |
probably null |
Het |
| Slco3a1 |
A |
T |
7: 74,153,931 (GRCm39) |
Y214N |
probably damaging |
Het |
| Tmem232 |
T |
C |
17: 65,563,569 (GRCm39) |
E608G |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,019 (GRCm39) |
Y137F |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,921 (GRCm39) |
I725T |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,007 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fos |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03088:Fos
|
APN |
12 |
85,522,630 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0653:Fos
|
UTSW |
12 |
85,522,790 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0846:Fos
|
UTSW |
12 |
85,522,457 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4700:Fos
|
UTSW |
12 |
85,522,936 (GRCm39) |
missense |
probably benign |
|
|
R6306:Fos
|
UTSW |
12 |
85,522,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Fos
|
UTSW |
12 |
85,520,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7528:Fos
|
UTSW |
12 |
85,522,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Fos
|
UTSW |
12 |
85,521,871 (GRCm39) |
missense |
probably benign |
|
|
R7853:Fos
|
UTSW |
12 |
85,522,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8443:Fos
|
UTSW |
12 |
85,522,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Fos
|
UTSW |
12 |
85,522,805 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8953:Fos
|
UTSW |
12 |
85,522,826 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2013-04-17 |
Incidental Mutation