Incidental Mutation 'IGL01554:Fbxl12'
ID90676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxl12
Ensembl Gene ENSMUSG00000066892
Gene NameF-box and leucine-rich repeat protein 12
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01554
Quality Score
Status
Chromosome9
Chromosomal Location20618118-20644767 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 20638919 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 170 (P170S)
Ref Sequence ENSEMBL: ENSMUSP00000121429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086458] [ENSMUST00000086459] [ENSMUST00000129414] [ENSMUST00000131128] [ENSMUST00000131343] [ENSMUST00000140702] [ENSMUST00000148631] [ENSMUST00000151861] [ENSMUST00000155301]
Predicted Effect possibly damaging
Transcript: ENSMUST00000086458
AA Change: P94S

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
AA Change: P94S

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086459
AA Change: P147S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: P147S

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
SCOP:d1fqva2 103 291 5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129414
SMART Domains Protein: ENSMUSP00000123971
Gene: ENSMUSG00000084786

DomainStartEndE-ValueType
Pfam:Ubiquitin_2 2 71 6.3e-7 PFAM
Pfam:ubiquitin 8 73 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131128
AA Change: P94S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
AA Change: P94S

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131343
AA Change: P94S

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000140702
AA Change: P94S

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
AA Change: P94S

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148631
AA Change: P147S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: P147S

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
SCOP:d1fqva2 103 291 5e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000151861
AA Change: P170S

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
AA Change: P170S

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155280
Predicted Effect probably benign
Transcript: ENSMUST00000155301
SMART Domains Protein: ENSMUSP00000118369
Gene: ENSMUSG00000066892

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
low complexity region 65 76 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, growth retardation, small placenta, absent gastric milk in mice that die and abnormal placental. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik A G 1: 134,389,958 N156S probably damaging Het
Abca8a T C 11: 110,042,166 I1211V probably benign Het
Adgre4 A G 17: 55,817,090 S497G probably damaging Het
Ankrd55 T C 13: 112,323,067 M65T possibly damaging Het
Ermard A G 17: 15,051,593 D338G possibly damaging Het
Espl1 T C 15: 102,313,225 L983P probably damaging Het
Ext2 A C 2: 93,811,949 L192V probably damaging Het
Fam189b A G 3: 89,185,581 T257A probably damaging Het
Fam83b T A 9: 76,502,121 Y241F probably benign Het
Fsip2 C A 2: 82,977,278 P1314T possibly damaging Het
Greb1l A G 18: 10,522,144 R747G probably benign Het
Hspa1a G T 17: 34,970,524 P468T probably damaging Het
Lamb1 T C 12: 31,306,977 C1028R probably damaging Het
Lcn8 C T 2: 25,654,186 A40V possibly damaging Het
Lmbrd2 A G 15: 9,165,819 Y260C possibly damaging Het
Mex3d G T 10: 80,382,035 N449K possibly damaging Het
Ncam2 A G 16: 81,512,935 K438E possibly damaging Het
Nudt7 A G 8: 114,147,885 probably benign Het
Nup214 C A 2: 32,051,072 S39* probably null Het
Olfr821 T C 10: 130,034,183 S186P probably damaging Het
Olfr866 T C 9: 20,027,408 I177V possibly damaging Het
Opn5 A G 17: 42,607,198 S58P probably damaging Het
Pcsk1 T A 13: 75,132,307 N750K probably benign Het
Pdzrn3 T C 6: 101,150,541 N1055D probably damaging Het
Phf2 T A 13: 48,805,879 K884* probably null Het
Prkdc A G 16: 15,652,302 N191S probably benign Het
Prpf8 A T 11: 75,495,646 Q987L probably damaging Het
Prrc2c G A 1: 162,710,786 P425L probably damaging Het
Rab36 T C 10: 75,050,688 I166T possibly damaging Het
Rab3gap1 G T 1: 127,928,008 L461F possibly damaging Het
Rnls A T 19: 33,391,099 Y27N possibly damaging Het
Sncaip A T 18: 52,868,934 I176F possibly damaging Het
Tagap G A 17: 7,932,948 G322S probably benign Het
Tas2r130 C T 6: 131,630,083 A250T probably benign Het
Tgs1 A G 4: 3,593,632 S507G probably null Het
Ttn T C 2: 76,875,712 probably benign Het
Zp2 T C 7: 120,138,325 K246E possibly damaging Het
Other mutations in Fbxl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0329:Fbxl12 UTSW 9 20638480 missense probably damaging 0.96
R2327:Fbxl12 UTSW 9 20642234 missense probably damaging 1.00
R2919:Fbxl12 UTSW 9 20642213 missense probably damaging 1.00
R3722:Fbxl12 UTSW 9 20638972 unclassified probably null
R5322:Fbxl12 UTSW 9 20639008 missense probably damaging 1.00
R6266:Fbxl12 UTSW 9 20638615 missense probably damaging 1.00
R6392:Fbxl12 UTSW 9 20639176 missense probably damaging 0.98
R7017:Fbxl12 UTSW 9 20618320 missense unknown
R7131:Fbxl12 UTSW 9 20644383 unclassified probably benign
R7213:Fbxl12 UTSW 9 20639008 missense probably damaging 1.00
R7238:Fbxl12 UTSW 9 20618413 splice site probably null
Posted On2013-12-09