Incidental Mutation 'IGL03387:Fbxl13'
ID420922
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 #IGL03387
Quality Score
Status
Chromosome5
Chromosomal Location21483847-21645634 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 21523798 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051358] [ENSMUST00000115234]
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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A G 2: 130,717,280 Y822H probably damaging Het
Adcy2 A C 13: 68,730,367 I384S probably damaging Het
Atxn7 T C 14: 14,087,273 probably benign Het
Blm A T 7: 80,494,147 V848D probably damaging Het
Cul1 G T 6: 47,501,209 L175F probably damaging Het
Cyp4a29 A G 4: 115,251,171 H364R possibly damaging Het
Ddx60 A G 8: 62,012,449 D1380G probably damaging Het
Det1 A T 7: 78,843,624 C211S possibly damaging Het
F5 A C 1: 164,193,232 Q1092P probably damaging Het
Fam117b A C 1: 59,952,960 Y256S probably benign Het
Galnt7 A G 8: 57,526,178 I637T probably benign Het
H2-T24 T A 17: 36,006,779 K120N unknown Het
Hes2 A G 4: 152,159,812 K18R probably damaging Het
Icam5 A T 9: 21,033,801 Q220L probably benign Het
Kdm8 G A 7: 125,455,106 A170T probably benign Het
Krt40 G A 11: 99,539,885 A321V probably damaging Het
Mapkbp1 T A 2: 119,998,498 V45D probably damaging Het
Mbip A G 12: 56,335,812 Y290H probably damaging Het
Mical1 A G 10: 41,478,199 Y48C probably damaging Het
Mslnl T C 17: 25,744,077 S300P probably benign Het
Nanog T C 6: 122,711,772 L104P probably damaging Het
Olfr1218 A T 2: 89,055,113 H104Q probably damaging Het
Olfr1313 T A 2: 112,071,662 Y307F probably benign Het
Olfr1333 T C 4: 118,830,041 Y132C probably damaging Het
Olfr668 A T 7: 104,925,373 N130K probably benign Het
Oxgr1 C A 14: 120,022,787 E3* probably null Het
Pam16 A T 16: 4,616,807 probably benign Het
Plcb1 A T 2: 134,813,686 probably benign Het
Slc25a32 A T 15: 39,105,964 V58E probably benign Het
Slc2a12 G T 10: 22,665,235 V330F probably damaging Het
Slit1 T C 19: 41,603,442 E1247G possibly damaging Het
Supt5 A T 7: 28,320,083 C519S possibly damaging Het
Szt2 A G 4: 118,364,725 probably benign Het
Tas2r118 A G 6: 23,969,181 W294R possibly damaging Het
Tex21 A T 12: 76,198,920 M534K probably damaging Het
Tmem132c T C 5: 127,563,720 I985T probably benign Het
Tmem87b T C 2: 128,823,099 V61A probably benign Het
Trhr2 G A 8: 122,358,481 probably benign Het
Ttc28 A G 5: 111,233,342 D1209G probably benign Het
Uchl5 A G 1: 143,802,202 E148G probably benign Het
Wdr62 T C 7: 30,270,774 I203V possibly damaging Het
Wnk1 T C 6: 119,954,187 I799V possibly 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
IGL02271:Fbxl13 APN 5 21490456 missense probably damaging 1.00
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
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 splice site 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
R7954:Fbxl13 UTSW 5 21543769 missense probably benign 0.19
R8036:Fbxl13 UTSW 5 21523568 missense probably damaging 1.00
R8098:Fbxl13 UTSW 5 21620718 missense probably benign 0.00
R8406:Fbxl13 UTSW 5 21523654 missense probably damaging 1.00
Posted On2016-08-02