Incidental Mutation 'IGL02551:Btrc'
ID298073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btrc
Ensembl Gene ENSMUSG00000025217
Gene Namebeta-transducin repeat containing protein
Synonymsbeta-TrCP, Fbw1a, SCF b-TRCP, Slimb, Beta-Trcp1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02551
Quality Score
Status
Chromosome19
Chromosomal Location45363734-45530013 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 45423134 bp
ZygosityHeterozygous
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]
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: 158,969,048 noncoding transcript Het
Abca8a T C 11: 110,084,242 I109V probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Adamts18 C A 8: 113,699,072 C1186F probably damaging Het
Adamts5 A T 16: 85,870,038 V522E possibly damaging Het
Adcy10 A G 1: 165,543,233 T694A probably damaging Het
Adgra2 G A 8: 27,119,222 V609I probably benign Het
Agbl3 A G 6: 34,823,071 K638R possibly damaging Het
Alpk2 T A 18: 65,372,751 N66I probably damaging Het
Ap3b1 T A 13: 94,418,091 I245N probably damaging Het
Aqp9 A G 9: 71,132,640 V120A probably damaging Het
Arhgef17 T C 7: 100,930,346 E465G probably damaging Het
Calhm2 G A 19: 47,133,100 S210L probably damaging Het
Cnksr3 C A 10: 7,152,912 K153N probably damaging Het
Cnr1 T C 4: 33,943,686 S25P probably benign Het
Dnajc6 T A 4: 101,639,353 W838R probably damaging Het
Fam78a T A 2: 32,069,556 T181S probably damaging Het
Fat1 A G 8: 45,051,398 T4600A probably damaging Het
Fbxo31 A T 8: 121,566,344 Y101N probably damaging Het
Glmp A G 3: 88,325,082 M1V probably null Het
Gsdmc T A 15: 63,801,933 T168S probably benign Het
Has1 C T 17: 17,848,298 V265I probably damaging Het
Hmcn2 A G 2: 31,454,811 D4670G possibly damaging Het
Kcnj4 C T 15: 79,484,902 M292I probably benign Het
Kmo A T 1: 175,637,919 S80C probably damaging Het
Lrrc8d C T 5: 105,813,548 T608I possibly damaging Het
Mical2 A T 7: 112,323,990 N635I probably benign Het
Nags T C 11: 102,147,941 S403P probably damaging Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Ncan A T 8: 70,102,462 N1018K probably damaging Het
Notch3 T A 17: 32,154,731 probably benign Het
Nup93 C T 8: 94,227,833 Q53* probably null Het
Pdk2 T A 11: 95,028,586 M288L probably benign Het
Pkd1 A G 17: 24,573,815 Y1492C probably damaging Het
Pla2g12b T A 10: 59,403,870 W34R probably damaging Het
Pla2g6 T A 15: 79,299,094 D511V possibly damaging Het
Plin2 C A 4: 86,658,692 M265I probably benign Het
Ppp6c A T 2: 39,206,657 F78I probably damaging Het
Prop1 A T 11: 50,950,946 M211K possibly damaging Het
Prr14l T A 5: 32,831,484 E222D probably damaging Het
Rtkn A T 6: 83,151,924 I454F probably damaging Het
Serinc2 T C 4: 130,260,774 I226V probably benign Het
Sh3bp1 T A 15: 78,904,338 H229Q probably benign Het
Slc13a3 G T 2: 165,424,573 F348L probably damaging Het
Slc6a15 T A 10: 103,404,275 probably benign Het
Spg7 G A 8: 123,076,978 G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 D40G probably benign Het
Tmcc2 A G 1: 132,357,579 L683P probably damaging Het
Triobp T C 15: 78,973,489 S1097P probably benign Het
Tspan9 T C 6: 127,965,763 D167G probably null Het
Ttll6 T C 11: 96,154,700 I581T probably benign Het
Usp29 A G 7: 6,963,353 probably null Het
Vgll4 A G 6: 114,862,293 W246R probably damaging Het
Vmn2r26 T C 6: 124,026,141 V170A probably benign Het
Vmn2r62 T C 7: 42,788,506 T185A probably benign Het
Vwce A G 19: 10,645,036 H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 E2194G possibly damaging Het
Other mutations in Btrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Btrc APN 19 45527265 missense probably damaging 0.99
IGL01691:Btrc APN 19 45512678 missense probably benign 0.00
IGL02719:Btrc APN 19 45503150 missense probably damaging 1.00
IGL02852:Btrc APN 19 45512656 nonsense probably null
IGL03128:Btrc APN 19 45513520 missense probably damaging 1.00
IGL03267:Btrc APN 19 45518823 missense probably damaging 1.00
R0145:Btrc UTSW 19 45423173 missense probably damaging 0.97
R0750:Btrc UTSW 19 45503146 missense probably damaging 1.00
R1466:Btrc UTSW 19 45513382 splice site probably benign
R1584:Btrc UTSW 19 45513382 splice site probably benign
R1772:Btrc UTSW 19 45512661 missense probably damaging 0.98
R1882:Btrc UTSW 19 45527400 missense probably damaging 1.00
R1959:Btrc UTSW 19 45527343 missense probably damaging 1.00
R1961:Btrc UTSW 19 45527343 missense probably damaging 1.00
R2483:Btrc UTSW 19 45516058 missense probably damaging 1.00
R4365:Btrc UTSW 19 45513480 missense probably damaging 1.00
R4812:Btrc UTSW 19 45423164 missense possibly damaging 0.83
R4883:Btrc UTSW 19 45456587 missense probably benign 0.09
R5321:Btrc UTSW 19 45507758 missense probably damaging 1.00
R7203:Btrc UTSW 19 45513528 splice site probably null
R7528:Btrc UTSW 19 45503086 missense possibly damaging 0.95
R8737:Btrc UTSW 19 45507759 missense probably damaging 1.00
Posted On2015-04-16