Incidental Mutation 'R9367:Fbxl12'
ID 709063
Institutional Source Beutler Lab
Gene Symbol Fbxl12
Ensembl Gene ENSMUSG00000066892
Gene Name F-box and leucine-rich repeat protein 12
Synonyms 3110048D16Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9367 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 20549045-20556064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20550130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 122 (F122S)
Ref Sequence ENSEMBL: ENSMUSP00000115058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086458] [ENSMUST00000086459] [ENSMUST00000129414] [ENSMUST00000131128] [ENSMUST00000131343] [ENSMUST00000140702] [ENSMUST00000148631] [ENSMUST00000151861] [ENSMUST00000155301]
AlphaFold Q9EPX5
Predicted Effect probably damaging
Transcript: ENSMUST00000086458
AA Change: F122S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
AA Change: F122S

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000086459
AA Change: F175S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: F175S

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 damaging
Transcript: ENSMUST00000131128
AA Change: F122S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
AA Change: F122S

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131343
AA Change: F122S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000140702
AA Change: F122S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
AA Change: F122S

DomainStartEndE-ValueType
SCOP:d1fqva2 50 238 4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148631
AA Change: F175S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: F175S

DomainStartEndE-ValueType
FBOX 7 46 1.14e-8 SMART
SCOP:d1fqva2 103 291 5e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151861
AA Change: F198S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
AA Change: F198S

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
4930568D16Rik A T 2: 35,244,939 (GRCm39) Y138N probably benign Het
Abca4 T C 3: 121,838,197 (GRCm39) M1T probably null Het
Acer3 A G 7: 97,908,621 (GRCm39) V104A probably damaging Het
Agpat4 A G 17: 12,435,597 (GRCm39) E287G probably benign Het
Akip1 C T 7: 109,308,156 (GRCm39) A146V unknown Het
Ank2 T C 3: 126,738,678 (GRCm39) N2402S unknown Het
Arhgdig A T 17: 26,418,451 (GRCm39) Y177* probably null Het
Arhgef38 T A 3: 132,847,998 (GRCm39) T355S unknown Het
Atp8a2 C A 14: 60,249,827 (GRCm39) probably null Het
Atp8b4 A G 2: 126,216,430 (GRCm39) I672T probably damaging Het
Baat T A 4: 49,503,008 (GRCm39) D38V probably damaging Het
Bcl9 T C 3: 97,117,861 (GRCm39) S278G probably benign Het
Ccdc150 C T 1: 54,324,760 (GRCm39) L350F probably damaging Het
Ceacam20 T G 7: 19,705,533 (GRCm39) S175A probably damaging Het
Chd6 A T 2: 160,871,784 (GRCm39) I217K possibly damaging Het
Cnppd1 T C 1: 75,117,617 (GRCm39) I35V probably benign Het
Col15a1 T C 4: 47,245,603 (GRCm39) I118T probably damaging Het
Csmd3 A T 15: 47,567,564 (GRCm39) Y1289N Het
Dio2 T C 12: 90,696,587 (GRCm39) T134A probably benign Het
Dnaaf9 A T 2: 130,581,380 (GRCm39) N678K probably benign Het
Dnah17 A G 11: 117,987,464 (GRCm39) V1282A possibly damaging Het
Dnah17 A G 11: 118,012,212 (GRCm39) S517P possibly damaging Het
Dync2h1 C T 9: 7,125,730 (GRCm39) probably null Het
Echdc2 C A 4: 108,036,111 (GRCm39) P274Q probably damaging Het
Fam117a T A 11: 95,271,570 (GRCm39) C381S probably damaging Het
Gen1 G A 12: 11,291,309 (GRCm39) Q892* probably null Het
Gimap4 A G 6: 48,667,746 (GRCm39) Y167C probably damaging Het
Gle1 T A 2: 29,839,014 (GRCm39) F476L probably damaging Het
Gpr135 A T 12: 72,117,473 (GRCm39) V98E possibly damaging Het
Greb1l A T 18: 10,522,130 (GRCm39) H742L probably benign Het
Habp2 G T 19: 56,304,781 (GRCm39) C392F probably damaging Het
Hapln3 G T 7: 78,771,455 (GRCm39) R145S probably damaging Het
Ikbkb A G 8: 23,171,711 (GRCm39) C179R probably damaging Het
Kat6a A T 8: 23,400,156 (GRCm39) I306L possibly damaging Het
Lmo3 A T 6: 138,342,958 (GRCm39) Y140* probably null Het
Lrrc32 T A 7: 98,148,937 (GRCm39) N572K probably damaging Het
Lrrn1 T A 6: 107,545,093 (GRCm39) M297K probably damaging Het
Magi2 G A 5: 20,766,308 (GRCm39) V676I probably damaging Het
Mdga1 T C 17: 30,051,282 (GRCm39) *957W probably null Het
Mip G T 10: 128,063,029 (GRCm39) G158V probably damaging Het
Mmp14 T C 14: 54,677,960 (GRCm39) I527T probably benign Het
Mmp27 G A 9: 7,573,550 (GRCm39) G188D probably damaging Het
Mylk4 A T 13: 32,960,236 (GRCm39) C17S possibly damaging Het
Naa50 T G 16: 43,977,554 (GRCm39) I94R probably damaging Het
Nyap1 A T 5: 137,734,248 (GRCm39) Y262N probably damaging Het
Obsl1 A G 1: 75,466,177 (GRCm39) V1517A probably benign Het
P4htm T A 9: 108,459,147 (GRCm39) M262L probably benign Het
Pappa2 T C 1: 158,784,542 (GRCm39) E156G probably benign Het
Pcdhb15 A T 18: 37,607,971 (GRCm39) Y401F possibly damaging Het
Pde2a G A 7: 101,160,361 (GRCm39) R845H probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Penk C T 4: 4,134,097 (GRCm39) M183I probably benign Het
Pole T C 5: 110,444,955 (GRCm39) V437A probably damaging Het
Ppp1r7 T C 1: 93,279,262 (GRCm39) I114T probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Pwp2 G A 10: 78,014,827 (GRCm39) Q386* probably null Het
Rad17 A T 13: 100,769,720 (GRCm39) S280T possibly damaging Het
Rhebl1 C T 15: 98,776,414 (GRCm39) E128K possibly damaging Het
Sema3e G T 5: 14,291,084 (GRCm39) V615L probably benign Het
Slc22a2 A T 17: 12,824,837 (GRCm39) Y233F probably benign Het
Ssu2 A G 6: 112,357,975 (GRCm39) S123P probably damaging Het
Stk10 A G 11: 32,538,878 (GRCm39) E239G Het
Surf6 G T 2: 26,782,380 (GRCm39) Q316K probably damaging Het
Tcerg1 G A 18: 42,685,573 (GRCm39) D637N possibly damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tnxb C A 17: 34,931,993 (GRCm39) F2175L probably damaging Het
Trp53i11 G C 2: 93,029,273 (GRCm39) V91L probably benign Het
Tspan9 A G 6: 127,944,102 (GRCm39) V66A probably damaging Het
Usp16 C T 16: 87,261,669 (GRCm39) T95M probably benign Het
Usp9y A T Y: 1,324,982 (GRCm39) F1691Y probably damaging Het
Uty A T Y: 1,099,584 (GRCm39) L1204I possibly damaging Het
Vmn1r192 A T 13: 22,371,800 (GRCm39) V140D possibly damaging Het
Vps54 T C 11: 21,250,234 (GRCm39) V552A probably benign Het
Vps8 T C 16: 21,340,668 (GRCm39) V804A possibly damaging Het
Zfp869 A C 8: 70,161,057 (GRCm39) L33R probably 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
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
R9574:Fbxl12 UTSW 9 20,550,109 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATCTTGCGCACATCTCGAAGG -3'
(R):5'- AATGCCCCAATCTGAAGCGC -3'

Sequencing Primer
(F):5'- ACATCTCGAAGGTGGCGG -3'
(R):5'- TGAGCATGGTGCCTATCAC -3'
Posted On 2022-04-18