Incidental Mutation 'R6336:Fbxl13'
ID 510751
Institutional Source Beutler Lab
Gene Symbol Fbxl13
Ensembl Gene ENSMUSG00000048520
Gene Name F-box and leucine-rich repeat protein 13
Synonyms 4921539K22Rik
MMRRC Submission 044490-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6336 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 21688845-21850632 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 21728545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051358] [ENSMUST00000115234]
AlphaFold Q8CDU4
Predicted Effect probably null
Transcript: ENSMUST00000051358
SMART Domains Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520

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 null
Transcript: ENSMUST00000115234
SMART Domains Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520

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 407 432 6.88e-4 SMART
Blast:LRR 433 458 7e-8 BLAST
LRR 459 484 2.63e0 SMART
LRR 509 534 4.15e1 SMART
LRR 535 559 1.82e1 SMART
LRR 562 587 1.76e-1 SMART
LRR_CC 588 613 4.61e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137788
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (45/46)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G T 5: 113,331,349 (GRCm39) P955Q possibly damaging Het
Adgrv1 T C 13: 81,534,100 (GRCm39) N5827S probably benign Het
Akt3 T C 1: 176,859,278 (GRCm39) D431G probably damaging Het
Anapc16 A T 10: 59,824,651 (GRCm39) V76D possibly damaging Het
Ankib1 A T 5: 3,750,377 (GRCm39) Y755* probably null Het
Ankrd6 A G 4: 32,860,411 (GRCm39) S11P probably damaging Het
Card6 T A 15: 5,128,646 (GRCm39) K917* probably null Het
Ccdc152 T C 15: 3,330,611 (GRCm39) I21M probably damaging Het
Ccdc40 A G 11: 119,122,819 (GRCm39) E207G possibly damaging Het
Clca3a2 G T 3: 144,512,239 (GRCm39) A499E probably benign Het
Cntnap5b C T 1: 100,286,394 (GRCm39) A383V probably benign Het
Ddo T C 10: 40,509,027 (GRCm39) V89A probably damaging Het
Depdc5 T C 5: 33,121,851 (GRCm39) 176 probably null Het
Dlgap1 T A 17: 71,122,284 (GRCm39) D904E probably damaging Het
Ephb4 T A 5: 137,370,347 (GRCm39) L849H probably damaging Het
Fer1l6 C A 15: 58,431,081 (GRCm39) Y245* probably null Het
Foxred2 A G 15: 77,839,964 (GRCm39) Y109H probably damaging Het
Gabarapl1 A G 6: 129,514,491 (GRCm39) D43G probably benign Het
Gabrb1 A C 5: 72,187,241 (GRCm39) E178A possibly damaging Het
Gbp11 A G 5: 105,473,355 (GRCm39) Het
Grin3b C A 10: 79,812,295 (GRCm39) A845E probably damaging Het
Hoxd4 A G 2: 74,557,705 (GRCm39) Y28C probably damaging Het
Igsf10 G A 3: 59,237,760 (GRCm39) T807M probably benign Het
Kcnt1 A G 2: 25,778,767 (GRCm39) probably null Het
Kdm5a C A 6: 120,375,939 (GRCm39) T565K probably damaging Het
Map7d1 A G 4: 126,130,475 (GRCm39) S412P probably damaging Het
Mok A G 12: 110,800,558 (GRCm39) probably null Het
Mto1 A T 9: 78,381,117 (GRCm39) I73F probably damaging Het
Mtss2 G A 8: 111,458,796 (GRCm39) D310N probably damaging Het
Ncf2 T C 1: 152,709,821 (GRCm39) Y393H probably damaging Het
Or13c25 A T 4: 52,911,459 (GRCm39) C112S probably damaging Het
Or2f1b T C 6: 42,739,591 (GRCm39) S202P probably damaging Het
Or2y14 G T 11: 49,405,369 (GRCm39) K301N probably damaging Het
Or4f47 A C 2: 111,972,751 (GRCm39) I154L probably benign Het
Or4k49 A G 2: 111,494,964 (GRCm39) H131R possibly damaging Het
Or52z1 T C 7: 103,437,452 (GRCm39) T11A possibly damaging Het
Phxr2 T A 10: 98,961,952 (GRCm39) probably benign Het
Potefam3f A G 8: 20,499,951 (GRCm39) K242E unknown Het
Rnf17 A G 14: 56,658,626 (GRCm39) probably null Het
Serpinb9d T C 13: 33,378,677 (GRCm39) M41T probably damaging Het
Slc12a5 T A 2: 164,834,384 (GRCm39) probably null Het
Slc22a6 G A 19: 8,599,494 (GRCm39) R331H probably benign Het
Spg11 G C 2: 121,943,440 (GRCm39) probably null Het
Src T A 2: 157,299,075 (GRCm39) V24E probably benign Het
Srgap1 A T 10: 121,761,846 (GRCm39) Y101N probably benign Het
Vmn2r30 T A 7: 7,337,307 (GRCm39) T110S probably benign Het
Vwa3a A G 7: 120,361,646 (GRCm39) E119G possibly damaging Het
Whamm T A 7: 81,241,512 (GRCm39) D274E probably damaging 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
R1110:Fbxl13 UTSW 5 21,689,034 (GRCm39) missense probably benign
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
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'- GTGGCATCTGCTTCTACACC -3'
(R):5'- CCAACAGGAAACAAAAGGATTTCTG -3'

Sequencing Primer
(F):5'- GGCATCTGCTTCTACACCAATTATAG -3'
(R):5'- CAAAAGGATTTCTGATGCGTGC -3'
Posted On 2018-04-02