Incidental Mutation 'IGL01554:Fbxl12'
ID 90676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxl12
Ensembl Gene ENSMUSG00000066892
Gene Name F-box and leucine-rich repeat protein 12
Synonyms 3110048D16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01554
Quality Score
Status
Chromosome 9
Chromosomal Location 20549045-20556064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20550215 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9EPX5
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: ENSMUST00000155280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153154
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
Abca8a T C 11: 109,932,992 (GRCm39) I1211V probably benign Het
Adgre4 A G 17: 56,124,090 (GRCm39) S497G probably damaging Het
Ankrd55 T C 13: 112,459,601 (GRCm39) M65T possibly damaging Het
Entrep3 A G 3: 89,092,888 (GRCm39) T257A probably damaging Het
Ermard A G 17: 15,271,855 (GRCm39) D338G possibly damaging Het
Espl1 T C 15: 102,221,660 (GRCm39) L983P probably damaging Het
Ext2 A C 2: 93,642,294 (GRCm39) L192V probably damaging Het
Fam83b T A 9: 76,409,403 (GRCm39) Y241F probably benign Het
Fsip2 C A 2: 82,807,622 (GRCm39) P1314T possibly damaging Het
Greb1l A G 18: 10,522,144 (GRCm39) R747G probably benign Het
Hspa1a G T 17: 35,189,500 (GRCm39) P468T probably damaging Het
Lamb1 T C 12: 31,356,976 (GRCm39) C1028R probably damaging Het
Lcn8 C T 2: 25,544,198 (GRCm39) A40V possibly damaging Het
Lmbrd2 A G 15: 9,165,906 (GRCm39) Y260C possibly damaging Het
Mex3d G T 10: 80,217,869 (GRCm39) N449K possibly damaging Het
Mgat4f A G 1: 134,317,696 (GRCm39) N156S probably damaging Het
Ncam2 A G 16: 81,309,823 (GRCm39) K438E possibly damaging Het
Nudt7 A G 8: 114,874,625 (GRCm39) probably benign Het
Nup214 C A 2: 31,941,084 (GRCm39) S39* probably null Het
Opn5 A G 17: 42,918,089 (GRCm39) S58P probably damaging Het
Or6c74 T C 10: 129,870,052 (GRCm39) S186P probably damaging Het
Or7e173 T C 9: 19,938,704 (GRCm39) I177V possibly damaging Het
Pcsk1 T A 13: 75,280,426 (GRCm39) N750K probably benign Het
Pdzrn3 T C 6: 101,127,502 (GRCm39) N1055D probably damaging Het
Phf2 T A 13: 48,959,355 (GRCm39) K884* probably null Het
Prkdc A G 16: 15,470,166 (GRCm39) N191S probably benign Het
Prpf8 A T 11: 75,386,472 (GRCm39) Q987L probably damaging Het
Prrc2c G A 1: 162,538,355 (GRCm39) P425L probably damaging Het
Rab36 T C 10: 74,886,520 (GRCm39) I166T possibly damaging Het
Rab3gap1 G T 1: 127,855,745 (GRCm39) L461F possibly damaging Het
Rnls A T 19: 33,368,499 (GRCm39) Y27N possibly damaging Het
Sncaip A T 18: 53,002,006 (GRCm39) I176F possibly damaging Het
Tagap G A 17: 8,151,780 (GRCm39) G322S probably benign Het
Tas2r130 C T 6: 131,607,046 (GRCm39) A250T probably benign Het
Tgs1 A G 4: 3,593,632 (GRCm39) S507G probably null Het
Ttn T C 2: 76,706,056 (GRCm39) probably benign Het
Zp2 T C 7: 119,737,548 (GRCm39) K246E possibly damaging Het
Other mutations in Fbxl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0329:Fbxl12 UTSW 9 20,549,776 (GRCm39) missense probably damaging 0.96
R2327:Fbxl12 UTSW 9 20,553,530 (GRCm39) missense probably damaging 1.00
R2919:Fbxl12 UTSW 9 20,553,509 (GRCm39) missense probably damaging 1.00
R3722:Fbxl12 UTSW 9 20,550,268 (GRCm39) splice site probably null
R5322:Fbxl12 UTSW 9 20,550,304 (GRCm39) missense probably damaging 1.00
R6266:Fbxl12 UTSW 9 20,549,911 (GRCm39) missense probably damaging 1.00
R6392:Fbxl12 UTSW 9 20,550,472 (GRCm39) missense probably damaging 0.98
R7017:Fbxl12 UTSW 9 20,529,616 (GRCm39) missense unknown
R7131:Fbxl12 UTSW 9 20,555,679 (GRCm39) unclassified probably benign
R7213:Fbxl12 UTSW 9 20,550,304 (GRCm39) missense probably damaging 1.00
R7238:Fbxl12 UTSW 9 20,529,709 (GRCm39) splice site probably null
R8270:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R8272:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R8273:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R8283:Fbxl12 UTSW 9 20,550,017 (GRCm39) missense probably benign 0.00
R8423:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R8508:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R8510:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R8526:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R8527:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R8528:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R8797:Fbxl12 UTSW 9 20,550,160 (GRCm39) missense possibly damaging 0.90
R9367:Fbxl12 UTSW 9 20,550,130 (GRCm39) missense probably damaging 0.97
R9574:Fbxl12 UTSW 9 20,550,109 (GRCm39) missense possibly damaging 0.94
Posted On 2013-12-09