Incidental Mutation 'IGL00897:Fos'
ID28692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fos
Ensembl Gene ENSMUSG00000021250
Gene NameFBJ osteosarcoma oncogene
SynonymscFos, D12Rfj1, c-fos
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00897
Quality Score
Status
Chromosome12
Chromosomal Location85473890-85477273 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 85476346 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 344 (T344I)
Ref Sequence ENSEMBL: ENSMUSP00000021674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021674]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,216,125 probably benign Het
Arsi A G 18: 60,912,430 Y64C probably damaging Het
Ascc3 A T 10: 50,728,091 E1302D probably benign Het
Aspm T C 1: 139,477,407 I1344T probably damaging Het
Atp2b1 T C 10: 99,015,020 I924T possibly damaging Het
Ccnb1 A G 13: 100,785,911 probably benign Het
Cps1 A G 1: 67,215,564 D1304G probably benign Het
Ctsq C A 13: 61,037,725 V201F probably damaging Het
Epb41 T A 4: 132,000,197 probably null Het
Fam196b T C 11: 34,403,011 V351A probably benign Het
Fat2 T C 11: 55,289,252 E1421G probably damaging Het
Flt1 T A 5: 147,589,854 Y873F probably benign Het
Gm11639 G A 11: 105,100,021 D293N probably damaging Het
Gsdme A G 6: 50,229,284 probably null Het
Inpp5d A G 1: 87,712,114 T846A probably benign Het
Kdm4c T C 4: 74,373,684 M846T probably damaging Het
Lrp2 A G 2: 69,521,881 F604L possibly damaging Het
Mab21l3 C A 3: 101,823,455 R156L probably damaging Het
Mrps9 A G 1: 42,905,459 E379G probably damaging Het
Myo16 T C 8: 10,315,518 L119P probably damaging Het
Neurod2 C T 11: 98,327,769 V190M probably damaging Het
Nprl2 T G 9: 107,545,528 N371K probably benign Het
Nr1d2 A T 14: 18,214,993 C340S probably benign Het
Nsg1 A T 5: 38,144,716 V117D probably damaging Het
Olfr818 A T 10: 129,945,911 D50E possibly damaging Het
Olfr859 T G 9: 19,808,621 V101G probably damaging Het
Paqr4 T C 17: 23,737,570 D273G possibly damaging Het
Plcb4 A G 2: 135,971,798 T686A probably benign Het
Ppp1r8 G A 4: 132,827,902 A335V probably damaging Het
Slc4a2 T A 5: 24,429,559 Y65* probably null Het
Slco3a1 A T 7: 74,504,183 Y214N probably damaging Het
Tmem232 T C 17: 65,256,574 E608G possibly damaging Het
Vmn1r169 A T 7: 23,577,594 Y137F probably damaging Het
Vmn2r97 T C 17: 18,947,659 I725T probably benign Het
Vmn2r98 T A 17: 19,065,745 probably benign Het
Other mutations in Fos
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Fos APN 12 85475856 missense possibly damaging 0.79
R0653:Fos UTSW 12 85476016 missense probably benign 0.16
R0846:Fos UTSW 12 85475683 missense probably damaging 0.96
R4700:Fos UTSW 12 85476162 missense probably benign
R6306:Fos UTSW 12 85475686 missense probably damaging 1.00
R7154:Fos UTSW 12 85474157 missense probably benign 0.00
R7528:Fos UTSW 12 85475658 missense probably damaging 1.00
R7577:Fos UTSW 12 85475097 missense probably benign
R7853:Fos UTSW 12 85476018 missense probably benign 0.01
R8443:Fos UTSW 12 85475692 missense probably damaging 1.00
Posted On2013-04-17