Incidental Mutation 'R4064:Fosb'
| ID |
316012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fosb
|
| Ensembl Gene |
ENSMUSG00000003545 |
| Gene Name |
FBJ osteosarcoma oncogene B |
| Synonyms |
|
| MMRRC Submission |
041620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4064 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19036621-19043970 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 19039117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 186
(C186*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003640]
[ENSMUST00000207334]
[ENSMUST00000207716]
[ENSMUST00000208326]
[ENSMUST00000208446]
[ENSMUST00000208505]
|
| AlphaFold |
P13346 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003640
AA Change: C222*
|
| SMART Domains |
Protein: ENSMUSP00000003640
Gene: ENSMUSG00000003545
AA Change: C222*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
132 |
N/A |
INTRINSIC |
|
BRLZ
|
153 |
217 |
5.58e-13 |
SMART |
|
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181066
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207334
AA Change: C186*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207716
AA Change: C147*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208230
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208326
AA Change: C183*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208446
AA Change: C222*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208505
AA Change: C186*
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (44/44) |
| 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show impaired nurturing behavior, altered behavioral tolerance to repeated motor seizures, reduced NMDA-mediated synaptic currents, and altered paradoxical sleep. Aging mice homozygous for another null allele may exhibit occasional tonic-clonic or generalized seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
G |
19: 43,793,432 (GRCm39) |
Y361* |
probably null |
Het |
| Afmid |
A |
G |
11: 117,727,354 (GRCm39) |
T293A |
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Axl |
C |
A |
7: 25,463,445 (GRCm39) |
V602L |
probably benign |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,513,098 (GRCm39) |
E435G |
possibly damaging |
Het |
| Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,428,980 (GRCm39) |
F683I |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
| Nhlh2 |
A |
G |
3: 101,920,052 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,286,348 (GRCm39) |
S167T |
probably benign |
Het |
| Or5w17 |
A |
G |
2: 87,584,133 (GRCm39) |
F68S |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,861,597 (GRCm39) |
S977G |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,188 (GRCm39) |
T98A |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,678,983 (GRCm39) |
K485R |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,243,368 (GRCm39) |
D588G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,082 (GRCm39) |
D723E |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,415,623 (GRCm39) |
S1830T |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,114,293 (GRCm39) |
S551P |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,373,766 (GRCm39) |
E127D |
probably benign |
Het |
| Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,690,925 (GRCm39) |
Y568H |
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,302,018 (GRCm39) |
A181T |
possibly damaging |
Het |
| Tbc1d2b |
T |
A |
9: 90,100,975 (GRCm39) |
K672* |
probably null |
Het |
| Tmem59l |
T |
C |
8: 70,938,369 (GRCm39) |
T168A |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,306 (GRCm39) |
F127S |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,028 (GRCm39) |
R87H |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
| Zscan22 |
C |
T |
7: 12,640,941 (GRCm39) |
T395I |
probably damaging |
Het |
|
| Other mutations in Fosb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Fosb
|
APN |
7 |
19,041,039 (GRCm39) |
splice site |
probably null |
|
|
R0183:Fosb
|
UTSW |
7 |
19,041,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0374:Fosb
|
UTSW |
7 |
19,041,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0555:Fosb
|
UTSW |
7 |
19,041,138 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2329:Fosb
|
UTSW |
7 |
19,041,110 (GRCm39) |
missense |
probably benign |
|
|
R3498:Fosb
|
UTSW |
7 |
19,040,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Fosb
|
UTSW |
7 |
19,043,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6327:Fosb
|
UTSW |
7 |
19,041,152 (GRCm39) |
missense |
probably benign |
|
|
R6605:Fosb
|
UTSW |
7 |
19,043,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Fosb
|
UTSW |
7 |
19,039,113 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7444:Fosb
|
UTSW |
7 |
19,041,199 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7764:Fosb
|
UTSW |
7 |
19,038,971 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACGAAGGGCTAACAACG -3'
(R):5'- TACTCTGTGTGGTCGCTGAC -3'
Sequencing Primer
(F):5'- CCGAGGACTTGAACTTCACTGTG -3'
(R):5'- GACCAGCAATTCTCCTTTCTCTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation