Incidental Mutation 'R8283:Fbxl12'
ID 638316
Institutional Source Beutler Lab
Gene Symbol Fbxl12
Ensembl Gene ENSMUSG00000066892
Gene Name F-box and leucine-rich repeat protein 12
Synonyms 3110048D16Rik
MMRRC Submission 067706-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8283 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 20549045-20556064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20550017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 213 (T213A)
Ref Sequence ENSEMBL: ENSMUSP00000083650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086458] [ENSMUST00000086459] [ENSMUST00000129414] [ENSMUST00000131128] [ENSMUST00000131343] [ENSMUST00000140702] [ENSMUST00000148631] [ENSMUST00000151861] [ENSMUST00000155301]
AlphaFold Q9EPX5
Predicted Effect probably benign
Transcript: ENSMUST00000086458
AA Change: T160A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
AA Change: T160A

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086459
AA Change: T213A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: T213A

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: T160A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
AA Change: T160A

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131343
Predicted Effect probably benign
Transcript: ENSMUST00000140702
AA Change: T160A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
AA Change: T160A

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148631
AA Change: T213A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: T213A

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
SCOP:d1fqva2 103 291 5e-5 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
AA Change: T160A

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,856,086 (GRCm39) P65S probably damaging Het
Adcy3 A T 12: 4,250,935 (GRCm39) R565W probably damaging Het
Arl14 A T 3: 69,129,868 (GRCm39) N5I probably benign Het
Arl6ip6 A G 2: 53,082,250 (GRCm39) E39G possibly damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
Boc A T 16: 44,340,800 (GRCm39) L50Q noncoding transcript Het
Calml3 A G 13: 3,854,097 (GRCm39) V36A probably damaging Het
Ccdc183 G A 2: 25,502,160 (GRCm39) A238V probably damaging Het
Ccndbp1 A G 2: 120,839,065 (GRCm39) probably benign Het
Ccr9 A G 9: 123,608,696 (GRCm39) Y126C probably damaging Het
Cdhr1 T C 14: 36,804,737 (GRCm39) N491S probably benign Het
Celsr2 C T 3: 108,303,771 (GRCm39) G2429D probably damaging Het
Cts6 T C 13: 61,349,457 (GRCm39) T84A probably damaging Het
Dcpp2 T C 17: 24,118,384 (GRCm39) probably null Het
Drosha A G 15: 12,890,587 (GRCm39) I945V possibly damaging Het
Dsg1b A G 18: 20,524,963 (GRCm39) Q133R probably benign Het
Enpp1 T A 10: 24,550,554 (GRCm39) E174D probably benign Het
Esrrb A G 12: 86,468,732 (GRCm39) H15R probably benign Het
Fnbp4 C A 2: 90,577,115 (GRCm39) T149K probably damaging Het
Foxj1 A T 11: 116,224,893 (GRCm39) F158Y probably benign Het
Frrs1 A G 3: 116,671,952 (GRCm39) T17A probably benign Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm45844 T C 7: 7,244,901 (GRCm39) Y11C possibly damaging Het
Hnrnpl T C 7: 28,513,697 (GRCm39) V220A Het
Iars2 T A 1: 185,020,288 (GRCm39) R949* probably null Het
Ice1 T C 13: 70,752,549 (GRCm39) E1179G probably damaging Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mcmdc2 A C 1: 10,004,263 (GRCm39) K581T possibly damaging Het
Men1 A T 19: 6,386,848 (GRCm39) D186V probably damaging Het
Morc2b T G 17: 33,355,675 (GRCm39) N699T probably benign Het
Mrgpra2b A G 7: 47,114,465 (GRCm39) L89P probably damaging Het
Naip1 C T 13: 100,563,695 (GRCm39) G490E probably damaging Het
Ntm T C 9: 28,923,508 (GRCm39) Y224C probably damaging Het
Nup88 A T 11: 70,849,166 (GRCm39) D262E probably benign Het
Or10ag52 T C 2: 87,043,683 (GRCm39) V149A probably benign Het
Or51l4 T A 7: 103,404,019 (GRCm39) I258L possibly damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Oscp1 A G 4: 125,980,393 (GRCm39) M293V probably benign Het
Pcdhgc3 C A 18: 37,940,694 (GRCm39) A365D probably damaging Het
Pcyt2 A T 11: 120,501,548 (GRCm39) F388I probably benign Het
Pgm2l1 C G 7: 99,902,460 (GRCm39) A136G probably benign Het
Phf14 T G 6: 11,987,636 (GRCm39) D638E probably benign Het
Pnpla7 A G 2: 24,940,935 (GRCm39) K1096E probably damaging Het
Prkcb T A 7: 122,199,948 (GRCm39) C586* probably null Het
Rnf187 T A 11: 58,829,241 (GRCm39) R124W probably damaging Het
Sema3a T C 5: 13,450,030 (GRCm39) Y36H probably damaging Het
Setd7 T G 3: 51,428,796 (GRCm39) S345R probably benign Het
Sgms1 T C 19: 32,137,035 (GRCm39) D177G probably damaging Het
Snx19 T C 9: 30,374,522 (GRCm39) L927S possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sorl1 T C 9: 41,942,294 (GRCm39) D977G probably damaging Het
Sptan1 C T 2: 29,870,212 (GRCm39) R121W probably damaging Het
Srgap2 T C 1: 131,291,771 (GRCm39) D152G probably damaging Het
Suclg2 T A 6: 95,474,700 (GRCm39) probably null Het
Tacc2 T C 7: 130,227,034 (GRCm39) S1240P probably benign Het
Tbc1d12 C T 19: 38,825,353 (GRCm39) A68V probably benign Het
Tex14 G A 11: 87,365,241 (GRCm39) D62N probably damaging Het
Thyn1 C T 9: 26,918,155 (GRCm39) T181I probably benign Het
Trio T A 15: 27,756,628 (GRCm39) H2056L possibly damaging Het
Ubn2 T A 6: 38,475,663 (GRCm39) L1207Q probably damaging Het
Usp17lb T C 7: 104,490,013 (GRCm39) S305G probably damaging Het
Vmn2r101 T A 17: 19,832,253 (GRCm39) Y750N probably damaging Het
Wif1 G A 10: 120,931,952 (GRCm39) S292N probably benign Het
Xpo6 T G 7: 125,727,421 (GRCm39) Q528H possibly damaging 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
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
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'- CACAATCTGAGTGGGTGTGG -3'
(R):5'- TGATCTGGTTGCAGAAAGAGC -3'

Sequencing Primer
(F):5'- GGCATGTCTGGGGTGATAAG -3'
(R):5'- CCTCTGCTGGAATGCATCGTG -3'
Posted On 2020-07-28