Incidental Mutation 'R6392:Fbxl12'
ID 515811
Institutional Source Beutler Lab
Gene Symbol Fbxl12
Ensembl Gene ENSMUSG00000066892
Gene Name F-box and leucine-rich repeat protein 12
Synonyms 3110048D16Rik
MMRRC Submission 044541-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6392 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 20549045-20556064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20550472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 84 (H84R)
Ref Sequence ENSEMBL: ENSMUSP00000121429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086458] [ENSMUST00000086459] [ENSMUST00000129414] [ENSMUST00000131128] [ENSMUST00000131343] [ENSMUST00000140702] [ENSMUST00000148631] [ENSMUST00000151861] [ENSMUST00000160682] [ENSMUST00000155301]
AlphaFold Q9EPX5
Predicted Effect probably damaging
Transcript: ENSMUST00000086458
AA Change: H8R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
AA Change: H8R

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086459
AA Change: H61R

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: H61R

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: H8R

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
AA Change: H8R

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000131343
AA Change: H8R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000140702
AA Change: H8R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
AA Change: H8R

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148631
AA Change: H61R

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: H61R

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
SCOP:d1fqva2 103 291 5e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151861
AA Change: H84R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
AA Change: H84R

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

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
low complexity region 65 76 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154429
Meta Mutation Damage Score 0.0859 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.1%
Validation Efficiency 96% (47/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,825,526 (GRCm39) I330F probably damaging Het
Abcc9 A G 6: 142,627,825 (GRCm39) S402P probably damaging Het
Ada A G 2: 163,570,137 (GRCm39) L292P probably damaging Het
Adam34l A T 8: 44,079,038 (GRCm39) N395K probably benign Het
Adra1d T C 2: 131,403,529 (GRCm39) D187G probably damaging Het
AI467606 C A 7: 126,691,717 (GRCm39) Y97* probably null Het
Arid2 A G 15: 96,259,483 (GRCm39) E245G probably damaging Het
Ccdc78 C G 17: 26,007,148 (GRCm39) Q213E probably damaging Het
Cntnap1 G T 11: 101,077,472 (GRCm39) D1045Y probably damaging Het
Ctcf T C 8: 106,390,765 (GRCm39) V124A probably damaging Het
Cutc T C 19: 43,748,489 (GRCm39) S129P possibly damaging Het
Dhx36 T C 3: 62,401,790 (GRCm39) I308V probably benign Het
Disp2 T C 2: 118,621,230 (GRCm39) V654A probably damaging Het
Esm1 G A 13: 113,346,283 (GRCm39) probably benign Het
Extl1 C T 4: 134,091,945 (GRCm39) V303I probably benign Het
Ezh1 G T 11: 101,094,630 (GRCm39) D387E probably damaging Het
Fbf1 T A 11: 116,043,775 (GRCm39) probably null Het
Fbxo6 C T 4: 148,230,462 (GRCm39) V267I probably benign Het
Helz G T 11: 107,493,167 (GRCm39) A197S possibly damaging Het
Ikbke T C 1: 131,202,883 (GRCm39) probably null Het
Kbtbd13 A G 9: 65,297,619 (GRCm39) F439S possibly damaging Het
Kif7 G A 7: 79,351,934 (GRCm39) R943W probably damaging Het
Lrp12 C T 15: 39,735,415 (GRCm39) C839Y probably damaging Het
Matr3 A G 18: 35,717,894 (GRCm39) D364G probably benign Het
Ncam1 T C 9: 49,434,875 (GRCm39) K624E probably damaging Het
Nup205 T C 6: 35,166,820 (GRCm39) S280P possibly damaging Het
Or4a66 A T 2: 88,531,011 (GRCm39) Y221N probably damaging Het
Or52a33 A C 7: 103,288,889 (GRCm39) C153G probably benign Het
Pira2 A T 7: 3,846,901 (GRCm39) S214T possibly damaging Het
Prss3b T C 6: 41,009,306 (GRCm39) Y176C probably damaging Het
Ptpn4 T A 1: 119,700,853 (GRCm39) I30F probably benign Het
Rnf144a T C 12: 26,360,779 (GRCm39) I253V possibly damaging Het
Sh3pxd2b T A 11: 32,373,302 (GRCm39) L823Q possibly damaging Het
Sh3rf3 A T 10: 58,842,898 (GRCm39) D288V probably damaging Het
Shprh T A 10: 11,054,485 (GRCm39) Y1031* probably null Het
Sidt1 T C 16: 44,111,657 (GRCm39) T173A possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Ssh3 C T 19: 4,315,399 (GRCm39) R309H probably benign Het
Tagap G T 17: 8,152,893 (GRCm39) G693W probably damaging Het
Tango2 T A 16: 18,119,403 (GRCm39) I143F probably damaging Het
Thsd7a T C 6: 12,468,928 (GRCm39) H550R probably damaging Het
Tmem131 T A 1: 36,920,423 (GRCm39) Q92H probably benign Het
Tnfrsf21 T C 17: 43,327,979 (GRCm39) L31P probably benign Het
Ttn A T 2: 76,730,487 (GRCm39) probably benign Het
Ubash3b T C 9: 40,926,268 (GRCm39) D493G probably damaging Het
Unc13a C T 8: 72,090,453 (GRCm39) G1411D possibly damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfc3h1 A T 10: 115,237,653 (GRCm39) R477S probably damaging Het
Zfp87 C T 13: 67,664,986 (GRCm39) R492K probably benign Het
Other mutations in Fbxl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:Fbxl12 APN 9 20,550,215 (GRCm39) missense possibly damaging 0.89
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
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
Predicted Primers PCR Primer
(F):5'- TCATGGAGATTTCGCAGCTG -3'
(R):5'- TTTAGCTCTAGGAAATGAAGCTCAG -3'

Sequencing Primer
(F):5'- TCCTCAGTGTGCTAGGAAGGC -3'
(R):5'- CTCAGAGAGGAGCAGAGTCCC -3'
Posted On 2018-05-04