Incidental Mutation 'IGL02551:Btrc'
ID 298073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btrc
Ensembl Gene ENSMUSG00000025217
Gene Name beta-transducin repeat containing protein
Synonyms Beta-Trcp1, Fbw1a, SCF b-TRCP, beta-TrCP, Slimb
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02551
Quality Score
Status
Chromosome 19
Chromosomal Location 45352173-45518452 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45411573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 31 (C31F)
Ref Sequence ENSEMBL: ENSMUSP00000153661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065601] [ENSMUST00000111936] [ENSMUST00000223684] [ENSMUST00000223764] [ENSMUST00000224102] [ENSMUST00000224318]
AlphaFold Q3ULA2
Predicted Effect possibly damaging
Transcript: ENSMUST00000065601
AA Change: C17F

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217
AA Change: C17F

DomainStartEndE-ValueType
Beta-TrCP_D 138 177 3.32e-25 SMART
FBOX 189 228 5.83e-6 SMART
WD40 292 329 7.92e-3 SMART
WD40 332 369 8.68e-9 SMART
WD40 372 409 5.31e-4 SMART
WD40 415 452 5.18e-7 SMART
WD40 455 492 3.93e-7 SMART
WD40 495 532 8.42e-7 SMART
WD40 544 581 4.62e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111936
SMART Domains Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217

DomainStartEndE-ValueType
Beta-TrCP_D 102 141 3.32e-25 SMART
FBOX 153 192 5.83e-6 SMART
WD40 256 293 7.92e-3 SMART
WD40 296 333 8.68e-9 SMART
WD40 336 373 5.31e-4 SMART
WD40 379 416 5.18e-7 SMART
WD40 419 456 3.93e-7 SMART
WD40 459 496 8.42e-7 SMART
WD40 508 545 4.62e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000223684
Predicted Effect probably benign
Transcript: ENSMUST00000223764
Predicted Effect possibly damaging
Transcript: ENSMUST00000224102
AA Change: C31F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000224318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225662
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Embryonic fibroblasts from homozygotes show an increase in polyploidy and apoptosis and decreased cell proliferation. In a second allele, homozygous mutation results in reduced male fertility and abnormal male meiosis with oligozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,796,618 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,975,068 (GRCm39) I109V probably benign Het
Acsm2 C T 7: 119,172,507 (GRCm39) P117S probably damaging Het
Adamts18 C A 8: 114,425,704 (GRCm39) C1186F probably damaging Het
Adamts5 A T 16: 85,666,926 (GRCm39) V522E possibly damaging Het
Adcy10 A G 1: 165,370,802 (GRCm39) T694A probably damaging Het
Adgra2 G A 8: 27,609,250 (GRCm39) V609I probably benign Het
Agbl3 A G 6: 34,800,006 (GRCm39) K638R possibly damaging Het
Alpk2 T A 18: 65,505,822 (GRCm39) N66I probably damaging Het
Ap3b1 T A 13: 94,554,599 (GRCm39) I245N probably damaging Het
Aqp9 A G 9: 71,039,922 (GRCm39) V120A probably damaging Het
Arhgef17 T C 7: 100,579,553 (GRCm39) E465G probably damaging Het
Calhm2 G A 19: 47,121,539 (GRCm39) S210L probably damaging Het
Cnksr3 C A 10: 7,102,912 (GRCm39) K153N probably damaging Het
Cnr1 T C 4: 33,943,686 (GRCm39) S25P probably benign Het
Dnajc6 T A 4: 101,496,550 (GRCm39) W838R probably damaging Het
Fam78a T A 2: 31,959,568 (GRCm39) T181S probably damaging Het
Fat1 A G 8: 45,504,435 (GRCm39) T4600A probably damaging Het
Fbxo31 A T 8: 122,293,083 (GRCm39) Y101N probably damaging Het
Glmp A G 3: 88,232,389 (GRCm39) M1V probably null Het
Gsdmc T A 15: 63,673,782 (GRCm39) T168S probably benign Het
Has1 C T 17: 18,068,560 (GRCm39) V265I probably damaging Het
Hmcn2 A G 2: 31,344,823 (GRCm39) D4670G possibly damaging Het
Kcnj4 C T 15: 79,369,103 (GRCm39) M292I probably benign Het
Kmo A T 1: 175,465,485 (GRCm39) S80C probably damaging Het
Lrrc8d C T 5: 105,961,414 (GRCm39) T608I possibly damaging Het
Mical2 A T 7: 111,923,197 (GRCm39) N635I probably benign Het
Nags T C 11: 102,038,767 (GRCm39) S403P probably damaging Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Ncan A T 8: 70,555,112 (GRCm39) N1018K probably damaging Het
Notch3 T A 17: 32,373,705 (GRCm39) probably benign Het
Nup93 C T 8: 94,954,461 (GRCm39) Q53* probably null Het
Pdk2 T A 11: 94,919,412 (GRCm39) M288L probably benign Het
Pkd1 A G 17: 24,792,789 (GRCm39) Y1492C probably damaging Het
Pla2g12b T A 10: 59,239,692 (GRCm39) W34R probably damaging Het
Pla2g6 T A 15: 79,183,294 (GRCm39) D511V possibly damaging Het
Plin2 C A 4: 86,576,929 (GRCm39) M265I probably benign Het
Ppp6c A T 2: 39,096,669 (GRCm39) F78I probably damaging Het
Prop1 A T 11: 50,841,773 (GRCm39) M211K possibly damaging Het
Prr14l T A 5: 32,988,828 (GRCm39) E222D probably damaging Het
Rtkn A T 6: 83,128,905 (GRCm39) I454F probably damaging Het
Serinc2 T C 4: 130,154,567 (GRCm39) I226V probably benign Het
Sh3bp1 T A 15: 78,788,538 (GRCm39) H229Q probably benign Het
Slc13a3 G T 2: 165,266,493 (GRCm39) F348L probably damaging Het
Slc6a15 T A 10: 103,240,136 (GRCm39) probably benign Het
Spg7 G A 8: 123,803,717 (GRCm39) G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 (GRCm39) D40G probably benign Het
Tmcc2 A G 1: 132,285,317 (GRCm39) L683P probably damaging Het
Triobp T C 15: 78,857,689 (GRCm39) S1097P probably benign Het
Tspan9 T C 6: 127,942,726 (GRCm39) D167G probably null Het
Ttll6 T C 11: 96,045,526 (GRCm39) I581T probably benign Het
Usp29 A G 7: 6,966,352 (GRCm39) probably null Het
Vgll4 A G 6: 114,839,254 (GRCm39) W246R probably damaging Het
Vmn2r26 T C 6: 124,003,100 (GRCm39) V170A probably benign Het
Vmn2r62 T C 7: 42,437,930 (GRCm39) T185A probably benign Het
Vwce A G 19: 10,622,400 (GRCm39) H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 (GRCm39) E2194G possibly damaging Het
Other mutations in Btrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Btrc APN 19 45,515,704 (GRCm39) missense probably damaging 0.99
IGL01691:Btrc APN 19 45,501,117 (GRCm39) missense probably benign 0.00
IGL02719:Btrc APN 19 45,491,589 (GRCm39) missense probably damaging 1.00
IGL02852:Btrc APN 19 45,501,095 (GRCm39) nonsense probably null
IGL03128:Btrc APN 19 45,501,959 (GRCm39) missense probably damaging 1.00
IGL03267:Btrc APN 19 45,507,262 (GRCm39) missense probably damaging 1.00
R0145:Btrc UTSW 19 45,411,612 (GRCm39) missense probably damaging 0.97
R0750:Btrc UTSW 19 45,491,585 (GRCm39) missense probably damaging 1.00
R1466:Btrc UTSW 19 45,501,821 (GRCm39) splice site probably benign
R1584:Btrc UTSW 19 45,501,821 (GRCm39) splice site probably benign
R1772:Btrc UTSW 19 45,501,100 (GRCm39) missense probably damaging 0.98
R1882:Btrc UTSW 19 45,515,839 (GRCm39) missense probably damaging 1.00
R1959:Btrc UTSW 19 45,515,782 (GRCm39) missense probably damaging 1.00
R1961:Btrc UTSW 19 45,515,782 (GRCm39) missense probably damaging 1.00
R2483:Btrc UTSW 19 45,504,497 (GRCm39) missense probably damaging 1.00
R4365:Btrc UTSW 19 45,501,919 (GRCm39) missense probably damaging 1.00
R4812:Btrc UTSW 19 45,411,603 (GRCm39) missense possibly damaging 0.83
R4883:Btrc UTSW 19 45,445,026 (GRCm39) missense probably benign 0.09
R5321:Btrc UTSW 19 45,496,197 (GRCm39) missense probably damaging 1.00
R7203:Btrc UTSW 19 45,501,967 (GRCm39) splice site probably null
R7528:Btrc UTSW 19 45,491,525 (GRCm39) missense possibly damaging 0.95
R8737:Btrc UTSW 19 45,496,198 (GRCm39) missense probably damaging 1.00
R9603:Btrc UTSW 19 45,459,526 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16