Incidental Mutation 'R2327:Fbxl12'
ID245709
Institutional Source Beutler Lab
Gene Symbol Fbxl12
Ensembl Gene ENSMUSG00000066892
Gene NameF-box and leucine-rich repeat protein 12
Synonyms
MMRRC Submission 040318-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2327 (G1)
Quality Score99
Status Not validated
Chromosome9
Chromosomal Location20618118-20644767 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20642234 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 19 (L19P)
Ref Sequence ENSEMBL: ENSMUSP00000118369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086458] [ENSMUST00000086459] [ENSMUST00000129414] [ENSMUST00000131128] [ENSMUST00000131343] [ENSMUST00000140702] [ENSMUST00000148631] [ENSMUST00000151861] [ENSMUST00000155301] [ENSMUST00000160124] [ENSMUST00000160682] [ENSMUST00000160874] [ENSMUST00000161486] [ENSMUST00000161882] [ENSMUST00000161887] [ENSMUST00000162303]
Predicted Effect probably benign
Transcript: ENSMUST00000086458
SMART Domains Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000086459
AA Change: L19P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: L19P

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
SMART Domains Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131343
Predicted Effect probably benign
Transcript: ENSMUST00000140702
SMART Domains Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148631
AA Change: L19P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: L19P

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
SCOP:d1fqva2 103 291 5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151861
SMART Domains Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892

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 damaging
Transcript: ENSMUST00000155301
AA Change: L19P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118369
Gene: ENSMUSG00000066892
AA Change: L19P

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
low complexity region 65 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160124
SMART Domains Protein: ENSMUSP00000125364
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: ENSMUST00000160682
SMART Domains Protein: ENSMUSP00000124672
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: ENSMUST00000160874
Predicted Effect probably benign
Transcript: ENSMUST00000161486
SMART Domains Protein: ENSMUSP00000124506
Gene: ENSMUSG00000084786

DomainStartEndE-ValueType
PDB:1UH6|A 1 50 4e-27 PDB
Blast:UBQ 2 49 4e-21 BLAST
SCOP:d1j8ca_ 12 46 3e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161834
SMART Domains Protein: ENSMUSP00000133396
Gene: ENSMUSG00000084786

DomainStartEndE-ValueType
Blast:UBQ 27 58 7e-8 BLAST
PDB:1P0R|A 27 58 3e-12 PDB
SCOP:d1j8ca_ 29 54 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161882
SMART Domains Protein: ENSMUSP00000125540
Gene: ENSMUSG00000084786

DomainStartEndE-ValueType
PDB:1UH6|A 1 113 5e-41 PDB
Blast:UBQ 2 113 1e-30 BLAST
SCOP:d1j8ca_ 12 60 3e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161887
SMART Domains Protein: ENSMUSP00000123843
Gene: ENSMUSG00000084786

DomainStartEndE-ValueType
PDB:1UH6|A 1 56 7e-36 PDB
Blast:UBQ 2 56 2e-27 BLAST
SCOP:d1j8ca_ 12 56 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162303
SMART Domains Protein: ENSMUSP00000124812
Gene: ENSMUSG00000084786

DomainStartEndE-ValueType
Pfam:Ubiquitin_2 2 71 6.3e-7 PFAM
Pfam:ubiquitin 8 73 7.6e-8 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A T 14: 63,971,120 probably null Het
Agbl4 T G 4: 111,526,601 S218A probably benign Het
Apol11b T C 15: 77,637,953 E48G probably damaging Het
Atp4a T A 7: 30,720,241 N676K probably benign Het
Capn5 T A 7: 98,126,367 S456C probably benign Het
Ccar1 T C 10: 62,764,382 Y590C probably damaging Het
Ccdc188 G T 16: 18,219,206 G283W probably damaging Het
Cd163l1 A T 7: 140,223,977 N363Y possibly damaging Het
Cd69 A G 6: 129,271,388 V45A probably damaging Het
Col3a1 G T 1: 45,338,611 probably benign Het
Cyb561a3 A T 19: 10,586,802 T169S probably benign Het
Cyp2c39 A T 19: 39,538,953 I248L probably benign Het
Cyp2j13 T C 4: 96,059,107 T236A possibly damaging Het
Efs A G 14: 54,917,504 V426A probably benign Het
Eme2 A G 17: 24,894,183 L136S probably damaging Het
Fastkd1 T A 2: 69,705,528 K312* probably null Het
Flg2 T A 3: 93,203,606 Y980* probably null Het
Fscn2 T A 11: 120,366,701 I296N probably damaging Het
Gabrg3 A G 7: 56,735,087 V242A probably benign Het
Galk2 A G 2: 125,975,395 H368R probably damaging Het
Gm10184 C A 17: 89,910,269 R16S probably benign Het
Gm12695 C T 4: 96,769,656 S92N probably benign Het
Gpalpp1 A T 14: 76,098,591 S196T probably benign Het
Gpld1 A T 13: 24,984,821 M773L probably benign Het
Haus8 A G 8: 71,255,645 probably null Het
Hirip3 A G 7: 126,862,866 R19G probably damaging Het
Inpp4a A G 1: 37,366,166 T92A probably damaging Het
Irgm2 A G 11: 58,220,392 D303G probably damaging Het
Krtap5-2 T G 7: 142,175,011 S311R unknown Het
Krtdap T A 7: 30,789,760 probably null Het
Lce1g G T 3: 92,750,833 S56Y unknown Het
Lrrn1 G A 6: 107,568,833 V531I probably benign Het
Mctp2 T C 7: 72,211,610 E429G probably damaging Het
Mrgpra2b T G 7: 47,464,045 D287A probably damaging Het
Mterf3 T C 13: 66,928,194 T150A probably damaging Het
Mtus2 A G 5: 148,077,915 N506S probably benign Het
Myh15 G T 16: 49,142,950 V1085L probably benign Het
Myo9a A G 9: 59,779,765 N51S probably benign Het
Nlrc3 A T 16: 3,953,440 L196Q probably damaging Het
Nlrp9c T A 7: 26,375,322 N816I probably damaging Het
Nsun2 T C 13: 69,619,581 V218A probably benign Het
Nt5dc1 T C 10: 34,313,677 E339G possibly damaging Het
Olfr1062 A T 2: 86,422,821 L285* probably null Het
Olfr1338 C T 4: 118,754,134 V135I probably benign Het
Olfr623 A G 7: 103,660,572 V226A probably damaging Het
Pik3ap1 A G 19: 41,296,389 I619T probably damaging Het
Plk1 A G 7: 122,159,895 D118G probably benign Het
Ppat T C 5: 76,922,467 D168G possibly damaging Het
Preb T C 5: 30,958,505 E198G probably damaging Het
Psg21 T C 7: 18,652,453 T203A possibly damaging Het
Rbm17 A G 2: 11,598,131 V54A probably damaging Het
Rgma T A 7: 73,417,826 D276E probably damaging Het
Ric8a T C 7: 140,859,558 L77P probably damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Scarf1 A C 11: 75,526,028 E765D probably damaging Het
Sec14l4 G A 11: 4,040,041 M113I probably benign Het
Senp1 C T 15: 98,082,284 C60Y probably damaging Het
Slc22a21 T A 11: 53,951,304 K549N probably benign Het
Slc39a10 T C 1: 46,835,996 S49G probably damaging Het
Spata13 T C 14: 60,709,555 M684T probably damaging Het
Spns1 T C 7: 126,370,786 T481A probably damaging Het
Stag1 A G 9: 100,786,613 Y198C possibly damaging Het
Tgfbr1 T A 4: 47,402,833 V210E probably damaging Het
Tnc C T 4: 63,975,238 E1604K possibly damaging Het
Tspan31 T C 10: 127,068,496 D143G probably benign Het
Tspan5 T A 3: 138,898,142 Y131* probably null Het
Ttc21a A G 9: 119,966,123 D1070G probably damaging Het
Vmn2r26 C T 6: 124,039,749 P391S probably benign Het
Vmn2r72 A G 7: 85,738,256 I700T probably damaging Het
Vps13c A C 9: 67,913,820 N1204T probably damaging Het
Zfhx4 C T 3: 5,403,358 P2859S probably benign Het
Other mutations in Fbxl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:Fbxl12 APN 9 20638919 missense possibly damaging 0.89
R0329:Fbxl12 UTSW 9 20638480 missense probably damaging 0.96
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
Predicted Primers PCR Primer
(F):5'- ATACCGTGTAGAGCGTCAGG -3'
(R):5'- TTTCCTAGAAAAGTAGGGATTCTCG -3'

Sequencing Primer
(F):5'- ACGTGTCGCCATAGCCAC -3'
(R):5'- AAGTAGGGATTCTCGGCGGG -3'
Posted On2014-10-30