Incidental Mutation 'IGL00502:Btrc'
| ID |
3169 |
| 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)
|
| Stock # |
IGL00502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45352173-45518452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45515704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 553
(E553V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065601]
[ENSMUST00000111936]
[ENSMUST00000224478]
|
| AlphaFold |
Q3ULA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065601
AA Change: E553V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217
AA Change: E553V
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000111936
AA Change: E517V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217
AA Change: E517V
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000224478
AA Change: E454V
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,301,278 (GRCm39) |
I82N |
probably damaging |
Het |
| Ampd2 |
A |
T |
3: 107,984,712 (GRCm39) |
L422H |
probably damaging |
Het |
| Angptl2 |
T |
A |
2: 33,118,406 (GRCm39) |
V60E |
probably damaging |
Het |
| Ano3 |
G |
A |
2: 110,601,395 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,373,078 (GRCm39) |
D112G |
probably benign |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,541,212 (GRCm39) |
Y1323* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,506,420 (GRCm39) |
C674R |
possibly damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,496,836 (GRCm39) |
D458G |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,198 (GRCm39) |
M898L |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,834,309 (GRCm39) |
V1961I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,381,822 (GRCm39) |
S2257P |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,717,999 (GRCm39) |
V12A |
probably benign |
Het |
| Foxk2 |
A |
G |
11: 121,187,925 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
T |
C |
8: 125,054,837 (GRCm39) |
M204T |
probably damaging |
Het |
| Gfi1b |
G |
A |
2: 28,504,797 (GRCm39) |
Q70* |
probably null |
Het |
| Gsdmc |
T |
C |
15: 63,676,270 (GRCm39) |
T58A |
probably benign |
Het |
| Hikeshi |
G |
A |
7: 89,572,818 (GRCm39) |
T26I |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,287,960 (GRCm39) |
D433G |
probably damaging |
Het |
| Ndufb5 |
T |
A |
3: 32,799,048 (GRCm39) |
V55D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,336 (GRCm39) |
S431P |
probably benign |
Het |
| Pdcd1lg2 |
A |
T |
19: 29,423,462 (GRCm39) |
T169S |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,734,419 (GRCm39) |
M1006K |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 83,098,097 (GRCm39) |
I94F |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,370,380 (GRCm39) |
D938V |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,705,319 (GRCm39) |
T842A |
possibly damaging |
Het |
| Spata21 |
C |
A |
4: 140,838,675 (GRCm39) |
|
probably null |
Het |
| Stk32a |
C |
T |
18: 43,443,510 (GRCm39) |
T229I |
possibly damaging |
Het |
| Tent4b |
C |
T |
8: 88,978,886 (GRCm39) |
Q63* |
probably null |
Het |
| Trim33 |
C |
T |
3: 103,237,498 (GRCm39) |
P185S |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,668,647 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
G |
13: 89,840,438 (GRCm39) |
V742A |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,837 (GRCm39) |
I196F |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,796,293 (GRCm39) |
I8F |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,980,879 (GRCm39) |
I491M |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,809,775 (GRCm39) |
T1095A |
possibly damaging |
Het |
|
| Other mutations in Btrc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01691:Btrc
|
APN |
19 |
45,501,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02551:Btrc
|
APN |
19 |
45,411,573 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
2012-04-20 |
Incidental Mutation