Incidental Mutation 'R1110:Fbxl13'
ID 96591
Institutional Source Beutler Lab
Gene Symbol Fbxl13
Ensembl Gene ENSMUSG00000048520
Gene Name F-box and leucine-rich repeat protein 13
Synonyms 4921539K22Rik
MMRRC Submission 039183-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1110 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 21688845-21850632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21689034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 758 (D758G)
Ref Sequence ENSEMBL: ENSMUSP00000052716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051358] [ENSMUST00000056045]
AlphaFold Q8CDU4
Predicted Effect probably benign
Transcript: ENSMUST00000051358
AA Change: D758G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: D758G

DomainStartEndE-ValueType
low complexity region 160 173 N/A INTRINSIC
FBOX 243 283 3.73e-4 SMART
LRR_CC 328 353 6.62e-6 SMART
LRR 354 378 3.67e2 SMART
LRR 379 404 2.75e-3 SMART
LRR 407 425 4.51e2 SMART
LRR 426 451 2.63e0 SMART
LRR 476 501 4.15e1 SMART
LRR 502 526 1.82e1 SMART
LRR 529 554 1.76e-1 SMART
LRR_CC 555 580 4.61e-5 SMART
LRR 604 629 8.81e-2 SMART
LRR 630 655 2.37e1 SMART
LRR 656 681 3.21e-4 SMART
LRR 682 707 6.57e-1 SMART
LRR 708 733 9.47e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056045
SMART Domains Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146056
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 97% (63/65)
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 FBXL13, 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]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T A 4: 155,989,856 (GRCm39) probably null Het
Acp2 A G 2: 91,038,767 (GRCm39) probably null Het
Akap13 T G 7: 75,261,125 (GRCm39) S447A possibly damaging Het
Alk G A 17: 72,291,740 (GRCm39) probably benign Het
Arhgef39 T C 4: 43,496,834 (GRCm39) T327A probably benign Het
Calhm5 T G 10: 33,972,013 (GRCm39) I141L probably benign Het
Cdan1 G A 2: 120,551,083 (GRCm39) A1103V probably damaging Het
Cdh18 A G 15: 23,474,403 (GRCm39) T758A probably benign Het
Cdk17 T A 10: 93,074,895 (GRCm39) Y3* probably null Het
Cdon T C 9: 35,367,733 (GRCm39) probably benign Het
Cntn3 T A 6: 102,222,119 (GRCm39) N460I probably benign Het
Cntrl T A 2: 35,050,639 (GRCm39) C985S possibly damaging Het
Col6a2 T C 10: 76,443,574 (GRCm39) E497G probably benign Het
Crybg1 A G 10: 43,875,089 (GRCm39) M673T possibly damaging Het
Cyp2u1 A G 3: 131,087,258 (GRCm39) I441T possibly damaging Het
Disp2 T C 2: 118,620,920 (GRCm39) S551P probably damaging Het
Dock2 A T 11: 34,206,535 (GRCm39) F1354I possibly damaging Het
Dstyk A G 1: 132,381,063 (GRCm39) probably benign Het
Dzip1 T C 14: 119,126,717 (GRCm39) N527S probably benign Het
Eomes A G 9: 118,313,667 (GRCm39) I571V probably benign Het
Frem1 T C 4: 82,868,557 (GRCm39) S1457G probably damaging Het
Gabbr2 C T 4: 46,718,838 (GRCm39) C613Y probably damaging Het
Gm9755 A T 8: 67,967,710 (GRCm39) noncoding transcript Het
Hnrnpul2 A G 19: 8,804,110 (GRCm39) R570G probably damaging Het
Ift70a1 A T 2: 75,810,320 (GRCm39) C588S probably damaging Het
Igdcc4 A G 9: 65,034,208 (GRCm39) H674R possibly damaging Het
Kdm5d T A Y: 910,539 (GRCm39) L250H probably damaging Het
Kif1a T C 1: 92,951,175 (GRCm39) probably benign Het
Kmt2c T C 5: 25,519,360 (GRCm39) N2250S probably benign Het
Kmt2e C T 5: 23,707,653 (GRCm39) H1739Y probably damaging Het
Lmtk3 T A 7: 45,444,427 (GRCm39) probably benign Het
Lpin3 A G 2: 160,735,999 (GRCm39) D93G probably benign Het
Myh10 T C 11: 68,682,676 (GRCm39) probably benign Het
Myom2 G A 8: 15,172,413 (GRCm39) E1171K probably benign Het
Ncoa6 A T 2: 155,253,440 (GRCm39) probably benign Het
Nup160 A G 2: 90,563,563 (GRCm39) probably benign Het
Oit3 G A 10: 59,264,016 (GRCm39) R373C probably damaging Het
Olfml2a A T 2: 38,849,765 (GRCm39) I494L probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or9r7 A G 10: 129,962,522 (GRCm39) Y135H probably damaging Het
Parp6 G T 9: 59,556,847 (GRCm39) C584F probably damaging Het
Pcgf2 A G 11: 97,582,676 (GRCm39) probably benign Het
Pde3a T C 6: 141,405,042 (GRCm39) probably benign Het
Pibf1 C T 14: 99,350,409 (GRCm39) R186C probably damaging Het
Pitrm1 A G 13: 6,608,280 (GRCm39) D335G probably benign Het
Pkp4 T C 2: 59,169,109 (GRCm39) L752P probably damaging Het
Plcb3 C A 19: 6,939,281 (GRCm39) E566* probably null Het
Prune2 T C 19: 17,102,586 (GRCm39) S2582P probably benign Het
Reln A T 5: 22,239,773 (GRCm39) D831E probably benign Het
Samd9l T A 6: 3,374,267 (GRCm39) D998V probably benign Het
Sardh G A 2: 27,081,931 (GRCm39) T865I possibly damaging Het
Setbp1 G A 18: 78,901,075 (GRCm39) T864I probably damaging Het
Slc9a1 T A 4: 133,097,859 (GRCm39) M2K probably benign Het
Sorbs2 A G 8: 46,248,767 (GRCm39) T593A probably benign Het
Spata31e3 A T 13: 50,402,296 (GRCm39) D83E possibly damaging Het
Svs5 A T 2: 164,175,507 (GRCm39) I120L probably benign Het
Tcl1b1 G T 12: 105,126,074 (GRCm39) V19F probably damaging Het
Urgcp T C 11: 5,666,004 (GRCm39) N778S probably benign Het
Vnn1 A T 10: 23,775,499 (GRCm39) I250F possibly damaging Het
Xntrpc A G 7: 101,732,181 (GRCm39) R365G possibly damaging Het
Zfp84 T A 7: 29,470,797 (GRCm39) M1K probably null Het
Zfyve26 G A 12: 79,326,841 (GRCm39) R761C probably damaging Het
Zp3r A G 1: 130,505,621 (GRCm39) probably null Het
Other mutations in Fbxl13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Fbxl13 APN 5 21,695,412 (GRCm39) missense possibly damaging 0.81
IGL02178:Fbxl13 APN 5 21,825,718 (GRCm39) missense possibly damaging 0.56
IGL02271:Fbxl13 APN 5 21,695,454 (GRCm39) missense probably damaging 1.00
IGL02317:Fbxl13 APN 5 21,727,232 (GRCm39) missense probably benign 0.28
IGL02508:Fbxl13 APN 5 21,761,803 (GRCm39) critical splice donor site probably null
IGL02891:Fbxl13 APN 5 21,727,098 (GRCm39) splice site probably benign
IGL03387:Fbxl13 APN 5 21,728,796 (GRCm39) critical splice donor site probably null
Laurel UTSW 5 21,787,051 (GRCm39) nonsense probably null
PIT4305001:Fbxl13 UTSW 5 21,727,146 (GRCm39) missense probably benign
R0040:Fbxl13 UTSW 5 21,691,371 (GRCm39) missense probably damaging 1.00
R0040:Fbxl13 UTSW 5 21,691,371 (GRCm39) missense probably damaging 1.00
R0278:Fbxl13 UTSW 5 21,728,908 (GRCm39) missense probably benign 0.03
R0597:Fbxl13 UTSW 5 21,819,712 (GRCm39) missense probably benign 0.09
R1172:Fbxl13 UTSW 5 21,825,602 (GRCm39) splice site probably benign
R1175:Fbxl13 UTSW 5 21,825,602 (GRCm39) splice site probably benign
R1464:Fbxl13 UTSW 5 21,688,989 (GRCm39) missense probably benign 0.21
R1464:Fbxl13 UTSW 5 21,688,989 (GRCm39) missense probably benign 0.21
R2174:Fbxl13 UTSW 5 21,787,046 (GRCm39) missense possibly damaging 0.74
R2426:Fbxl13 UTSW 5 21,727,135 (GRCm39) missense probably damaging 1.00
R4171:Fbxl13 UTSW 5 21,748,786 (GRCm39) missense probably benign 0.02
R4413:Fbxl13 UTSW 5 21,787,051 (GRCm39) nonsense probably null
R4655:Fbxl13 UTSW 5 21,787,037 (GRCm39) missense probably damaging 1.00
R4816:Fbxl13 UTSW 5 21,689,001 (GRCm39) missense probably benign 0.25
R5544:Fbxl13 UTSW 5 21,729,489 (GRCm39) missense probably damaging 0.96
R5979:Fbxl13 UTSW 5 21,787,089 (GRCm39) missense probably damaging 1.00
R6176:Fbxl13 UTSW 5 21,705,498 (GRCm39) missense possibly damaging 0.83
R6211:Fbxl13 UTSW 5 21,689,019 (GRCm39) missense possibly damaging 0.57
R6252:Fbxl13 UTSW 5 21,826,499 (GRCm39) missense possibly damaging 0.96
R6336:Fbxl13 UTSW 5 21,728,545 (GRCm39) critical splice donor site probably null
R6455:Fbxl13 UTSW 5 21,761,812 (GRCm39) missense probably benign 0.02
R6522:Fbxl13 UTSW 5 21,766,554 (GRCm39) splice site probably null
R6827:Fbxl13 UTSW 5 21,727,176 (GRCm39) missense probably damaging 0.97
R6961:Fbxl13 UTSW 5 21,748,740 (GRCm39) missense probably damaging 1.00
R6998:Fbxl13 UTSW 5 21,825,611 (GRCm39) missense probably null 0.03
R6998:Fbxl13 UTSW 5 21,748,687 (GRCm39) missense probably damaging 1.00
R7152:Fbxl13 UTSW 5 21,787,065 (GRCm39) missense possibly damaging 0.95
R7196:Fbxl13 UTSW 5 21,691,301 (GRCm39) missense probably damaging 0.97
R7418:Fbxl13 UTSW 5 21,786,981 (GRCm39) missense probably benign 0.00
R7490:Fbxl13 UTSW 5 21,728,058 (GRCm39) nonsense probably null
R7649:Fbxl13 UTSW 5 21,819,664 (GRCm39) missense probably benign 0.13
R7816:Fbxl13 UTSW 5 21,748,785 (GRCm39) missense probably benign 0.11
R7954:Fbxl13 UTSW 5 21,748,767 (GRCm39) missense probably benign 0.19
R8036:Fbxl13 UTSW 5 21,728,566 (GRCm39) missense probably damaging 1.00
R8098:Fbxl13 UTSW 5 21,825,716 (GRCm39) missense probably benign 0.00
R8406:Fbxl13 UTSW 5 21,728,652 (GRCm39) missense probably damaging 1.00
R8912:Fbxl13 UTSW 5 21,727,184 (GRCm39) missense probably damaging 0.96
R9102:Fbxl13 UTSW 5 21,837,801 (GRCm39) missense probably benign 0.00
R9378:Fbxl13 UTSW 5 21,790,201 (GRCm39) missense probably damaging 0.98
R9473:Fbxl13 UTSW 5 21,790,243 (GRCm39) missense possibly damaging 0.67
R9553:Fbxl13 UTSW 5 21,728,151 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTTTCCTACATTGTAACCGGGG -3'
(R):5'- GATACTTGTGCCAGAGGAACCTGAC -3'

Sequencing Primer
(F):5'- ctggagaggtggcttagtg -3'
(R):5'- CTCTGCATTAAATGTGACTGGTGAC -3'
Posted On 2014-01-05