Incidental Mutation 'R3722:Fbxl12'
ID258972
Institutional Source Beutler Lab
Gene Symbol Fbxl12
Ensembl Gene ENSMUSG00000066892
Gene NameF-box and leucine-rich repeat protein 12
Synonyms
MMRRC Submission 040713-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3722 (G1)
Quality Score202
Status Validated
Chromosome9
Chromosomal Location20618118-20644767 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 20638972 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086458] [ENSMUST00000086459] [ENSMUST00000129414] [ENSMUST00000131128] [ENSMUST00000131343] [ENSMUST00000140702] [ENSMUST00000148631] [ENSMUST00000151861] [ENSMUST00000155301]
PDB Structure
Solution Structure of the murine ubiquitin-like 5 protein from RIKEN cDNA 0610031K06 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000086458
AA Change: L76Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
AA Change: L76Q

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000086459
AA Change: L129Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: L129Q

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
SCOP:d1fqva2 103 291 5e-5 SMART
Predicted Effect probably null
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 damaging
Transcript: ENSMUST00000131128
AA Change: L76Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
AA Change: L76Q

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131343
AA Change: L76Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000140702
AA Change: L76Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
AA Change: L76Q

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148631
AA Change: L129Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: L129Q

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
SCOP:d1fqva2 103 291 5e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151861
AA Change: L152Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
AA Change: L152Q

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
Meta Mutation Damage Score 0.9209 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (61/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A T 10: 10,340,510 S1485T probably benign Het
Akap9 A G 5: 4,070,351 Y3589C probably damaging Het
Alkbh8 T C 9: 3,385,153 Y482H probably damaging Het
Appl1 G A 14: 26,927,844 T575M probably damaging Het
Arhgap21 T C 2: 20,850,291 E1420G probably damaging Het
Asic3 A T 5: 24,416,999 Y419F probably benign Het
Atg7 A G 6: 114,695,663 Y279C probably damaging Het
Braf G A 6: 39,623,676 P616L probably damaging Het
Btnl2 T C 17: 34,358,135 M88T possibly damaging Het
C1rb T A 6: 124,580,661 Y586N probably damaging Het
Cacna1s T C 1: 136,069,042 F127S possibly damaging Het
Cd47 A G 16: 49,867,842 I42V probably benign Het
Cox8b T A 7: 140,899,005 K66* probably null Het
Diras2 T A 13: 52,508,023 I83F probably damaging Het
Dlg2 T A 7: 91,711,800 probably null Het
Dnah8 G A 17: 30,854,898 R4514H probably damaging Het
Dnaic1 G A 4: 41,602,615 R113H probably damaging Het
Dolpp1 T C 2: 30,397,488 L204P probably damaging Het
Fam170a C T 18: 50,282,204 P306S probably benign Het
Fam205a1 T C 4: 42,851,472 E228G probably benign Het
Fndc3a T A 14: 72,540,208 I1186F probably benign Het
Gm12886 T A 4: 121,417,470 D71V probably damaging Het
Hist1h3g T C 13: 23,535,552 V36A possibly damaging Het
Ica1 A G 6: 8,659,021 probably benign Het
Ighv8-11 A G 12: 115,567,151 I119T possibly damaging Het
Ism1 A T 2: 139,732,011 R94* probably null Het
Kbtbd11 T A 8: 15,029,118 C572* probably null Het
Kcnk15 T C 2: 163,858,294 L132P probably damaging Het
Lrmda T A 14: 22,027,331 probably benign Het
Mei1 A G 15: 82,103,204 H399R possibly damaging Het
Mkl2 C T 16: 13,385,693 A201V probably damaging Het
Ncstn G A 1: 172,067,895 T562M possibly damaging Het
Nudt4 A T 10: 95,549,505 probably null Het
Olfr1248 A T 2: 89,618,159 I11N possibly damaging Het
Olfr958 A C 9: 39,550,122 C250G probably damaging Het
Omp T C 7: 98,145,213 N69S probably benign Het
Pak1 C T 7: 97,854,497 P13L probably damaging Het
Pde4d T A 13: 109,951,332 C744* probably null Het
Pelp1 T C 11: 70,398,200 Y240C possibly damaging Het
Pou2f1 G C 1: 165,894,969 P349R probably damaging Het
Ptprk A G 10: 28,383,623 D353G probably damaging Het
Ptprs A G 17: 56,417,485 F1152S probably damaging Het
Rnf135 G T 11: 80,196,917 A231S probably benign Het
Rpn1 G A 6: 88,090,300 probably null Het
Rreb1 T A 13: 37,947,098 D1409E probably benign Het
Sipa1l2 G A 8: 125,473,584 H668Y probably damaging Het
Slc35a5 A T 16: 45,147,322 I138N probably damaging Het
Slc35d1 T C 4: 103,208,124 K187E possibly damaging Het
Slc44a2 A T 9: 21,342,977 I212F possibly damaging Het
Slc7a1 G A 5: 148,335,533 R445* probably null Het
Snapc4 A G 2: 26,365,428 L1028P probably benign Het
Snrnp40 C T 4: 130,368,275 T152I possibly damaging Het
Spink4 T A 4: 40,929,136 C54S probably damaging Het
Tex2 C T 11: 106,546,740 W203* probably null Het
Tmcc1 T C 6: 116,133,822 E170G possibly damaging Het
Ttc23l CT CTTGGATT 15: 10,537,562 probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Ttll6 A G 11: 96,133,921 N46D probably benign Het
Txk T A 5: 72,707,735 K266* probably null Het
Uggt2 T C 14: 119,041,518 E859G probably damaging Het
Uros A T 7: 133,702,391 M1K probably null Het
Vps13b T A 15: 35,671,382 I1677N probably damaging Het
Zbtb5 A G 4: 44,994,863 probably null Het
Zfp760 A G 17: 21,722,162 Y106C probably damaging 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
R2327:Fbxl12 UTSW 9 20642234 missense probably damaging 1.00
R2919:Fbxl12 UTSW 9 20642213 missense probably damaging 1.00
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'- TTTGCAGGTAGCTGAGCTCC -3'
(R):5'- AAGTCATGTGGCACCTCCTG -3'

Sequencing Primer
(F):5'- ATCTAGCCCGGTCTCAGTGAC -3'
(R):5'- TCCTGCGCCGGTACATG -3'
Posted On2015-01-23