Incidental Mutation 'IGL02271:Fbxl13'
ID287152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxl13
Ensembl Gene ENSMUSG00000048520
Gene NameF-box and leucine-rich repeat protein 13
Synonyms4921539K22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02271
Quality Score
Status
Chromosome5
Chromosomal Location21483847-21645634 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 21490456 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 646 (D646A)
Ref Sequence ENSEMBL: ENSMUSP00000052716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051358]
Predicted Effect probably damaging
Transcript: ENSMUST00000051358
AA Change: D646A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: D646A

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 noncoding transcript
Transcript: ENSMUST00000137788
Coding Region Coverage
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,510,950 probably benign Het
Bms1 C A 6: 118,389,329 V1068F probably benign Het
Cand1 A T 10: 119,211,721 N621K probably damaging Het
Cd44 C T 2: 102,831,387 E418K possibly damaging Het
Clip2 A T 5: 134,502,571 N758K probably benign Het
Cst11 A T 2: 148,771,241 Y55N probably damaging Het
Cytip A T 2: 58,133,860 L316* probably null Het
Ddx52 T C 11: 83,952,231 M352T probably damaging Het
Fancd2 G A 6: 113,535,759 probably benign Het
Fat4 A T 3: 38,979,919 E2573D probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Grid2ip A G 5: 143,388,909 D928G probably benign Het
Hmgxb3 A G 18: 61,132,213 L1231P probably damaging Het
Ifitm7 A G 16: 13,983,677 F73L probably damaging Het
Ikbkb T A 8: 22,665,903 T583S probably benign Het
Kdm6b G A 11: 69,406,067 A458V possibly damaging Het
Klra2 T C 6: 131,230,217 K143R probably benign Het
Kmt2d A G 15: 98,866,428 S42P possibly damaging Het
Krt78 T A 15: 101,948,593 M360L probably benign Het
Lamb1 A G 12: 31,300,251 N677S probably damaging Het
Lrrc9 G A 12: 72,510,381 V1407I probably benign Het
Myo6 A G 9: 80,260,831 T426A probably benign Het
Net1 T C 13: 3,887,663 Y146C probably damaging Het
Nlrp4d T A 7: 10,388,698 noncoding transcript Het
Notch4 A T 17: 34,568,471 N335I probably damaging Het
Olfr127 A T 17: 37,904,243 E232D probably benign Het
Olfr202 A T 16: 59,284,221 I92K probably damaging Het
Olfr920 A T 9: 38,756,488 T267S probably benign Het
Pax3 A T 1: 78,195,332 H80Q probably damaging Het
Pclo A T 5: 14,679,494 probably benign Het
Pdgfra A G 5: 75,187,906 D869G probably damaging Het
Per2 T C 1: 91,445,610 Y152C probably damaging Het
Pilrb2 T C 5: 137,866,863 D223G probably benign Het
Rag1 T A 2: 101,643,388 I470F probably damaging Het
Rap1gap T C 4: 137,718,006 S333P probably damaging Het
Rundc3b A G 5: 8,492,530 Y430H probably damaging Het
Ryr1 T C 7: 29,094,047 D1332G probably benign Het
Sgo1 G A 17: 53,679,539 A208V possibly damaging Het
Skint5 C T 4: 113,937,581 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc28a3 A T 13: 58,558,637 S597T probably benign Het
Slc4a5 T A 6: 83,271,103 probably benign Het
Slc52a3 A G 2: 152,005,528 probably benign Het
Stac3 A G 10: 127,503,899 D158G probably benign Het
Tdo2 T C 3: 81,963,917 probably benign Het
Usp25 A T 16: 77,115,447 E1018V probably damaging Het
Vmn1r46 T A 6: 89,976,904 F245Y probably damaging Het
Other mutations in Fbxl13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Fbxl13 APN 5 21490414 missense possibly damaging 0.81
IGL02178:Fbxl13 APN 5 21620720 missense possibly damaging 0.56
IGL02317:Fbxl13 APN 5 21522234 missense probably benign 0.28
IGL02508:Fbxl13 APN 5 21556805 critical splice donor site probably null
IGL02891:Fbxl13 APN 5 21522100 splice site probably benign
IGL03387:Fbxl13 APN 5 21523798 critical splice donor site probably null
laurel UTSW 5 21582053 nonsense probably null
PIT4305001:Fbxl13 UTSW 5 21522148 missense probably benign
R0040:Fbxl13 UTSW 5 21486373 missense probably damaging 1.00
R0040:Fbxl13 UTSW 5 21486373 missense probably damaging 1.00
R0278:Fbxl13 UTSW 5 21523910 missense probably benign 0.03
R0597:Fbxl13 UTSW 5 21614714 missense probably benign 0.09
R1110:Fbxl13 UTSW 5 21484036 missense probably benign
R1172:Fbxl13 UTSW 5 21620604 splice site probably benign
R1175:Fbxl13 UTSW 5 21620604 splice site probably benign
R1464:Fbxl13 UTSW 5 21483991 missense probably benign 0.21
R1464:Fbxl13 UTSW 5 21483991 missense probably benign 0.21
R2174:Fbxl13 UTSW 5 21582048 missense possibly damaging 0.74
R2426:Fbxl13 UTSW 5 21522137 missense probably damaging 1.00
R4171:Fbxl13 UTSW 5 21543788 missense probably benign 0.02
R4413:Fbxl13 UTSW 5 21582053 nonsense probably null
R4655:Fbxl13 UTSW 5 21582039 missense probably damaging 1.00
R4816:Fbxl13 UTSW 5 21484003 missense probably benign 0.25
R5544:Fbxl13 UTSW 5 21524491 missense probably damaging 0.96
R5979:Fbxl13 UTSW 5 21582091 missense probably damaging 1.00
R6176:Fbxl13 UTSW 5 21500500 missense possibly damaging 0.83
R6211:Fbxl13 UTSW 5 21484021 missense possibly damaging 0.57
R6252:Fbxl13 UTSW 5 21621501 missense possibly damaging 0.96
R6336:Fbxl13 UTSW 5 21523547 critical splice donor site probably null
R6455:Fbxl13 UTSW 5 21556814 missense probably benign 0.02
R6522:Fbxl13 UTSW 5 21561556 unclassified probably null
R6827:Fbxl13 UTSW 5 21522178 missense probably damaging 0.97
R6961:Fbxl13 UTSW 5 21543742 missense probably damaging 1.00
R6998:Fbxl13 UTSW 5 21543689 missense probably damaging 1.00
R6998:Fbxl13 UTSW 5 21620613 missense probably null 0.03
R7152:Fbxl13 UTSW 5 21582067 missense possibly damaging 0.95
R7196:Fbxl13 UTSW 5 21486303 missense probably damaging 0.97
R7418:Fbxl13 UTSW 5 21581983 missense probably benign 0.00
R7490:Fbxl13 UTSW 5 21523060 nonsense probably null
R7649:Fbxl13 UTSW 5 21614666 missense probably benign 0.13
R7816:Fbxl13 UTSW 5 21543787 missense probably benign 0.11
R8036:Fbxl13 UTSW 5 21523568 missense probably damaging 1.00
R8098:Fbxl13 UTSW 5 21620718 missense probably benign 0.00
Posted On2015-04-16