Incidental Mutation 'IGL03128:Btrc'
| ID |
410210 |
| 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 # |
IGL03128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45352173-45518452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45501959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 226
(I226N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065601]
[ENSMUST00000111936]
[ENSMUST00000224478]
|
| AlphaFold |
Q3ULA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065601
AA Change: I325N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217
AA Change: I325N
| 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: I289N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217
AA Change: I289N
| 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 damaging
Transcript: ENSMUST00000224478
AA Change: I226N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
T |
11: 116,072,829 (GRCm39) |
L114M |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,159,260 (GRCm39) |
|
probably benign |
Het |
| Cth |
C |
T |
3: 157,626,672 (GRCm39) |
G56D |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,883,621 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,909,491 (GRCm39) |
M271K |
probably benign |
Het |
| Fam78b |
T |
A |
1: 166,906,510 (GRCm39) |
L223Q |
probably damaging |
Het |
| Fgl2 |
A |
T |
5: 21,578,291 (GRCm39) |
M193L |
probably benign |
Het |
| Ifi205 |
A |
T |
1: 173,842,652 (GRCm39) |
V348E |
probably damaging |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,998 (GRCm39) |
K74N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,960,480 (GRCm39) |
K1355M |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,212,832 (GRCm39) |
N576K |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,395,005 (GRCm39) |
|
probably null |
Het |
| Nfic |
T |
C |
10: 81,242,025 (GRCm39) |
T328A |
probably benign |
Het |
| Npat |
T |
A |
9: 53,461,333 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,230,798 (GRCm39) |
I524V |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,054 (GRCm39) |
E486K |
probably benign |
Het |
| Pde9a |
C |
T |
17: 31,678,884 (GRCm39) |
H216Y |
possibly damaging |
Het |
| Polr2k |
C |
A |
15: 36,174,337 (GRCm39) |
P31Q |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,518,608 (GRCm39) |
|
probably benign |
Het |
| Raver1 |
A |
T |
9: 20,992,038 (GRCm39) |
L385Q |
probably damaging |
Het |
| Slc10a7 |
C |
A |
8: 79,251,846 (GRCm39) |
T80K |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,802,282 (GRCm39) |
K272R |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,615,708 (GRCm39) |
I200V |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,892,714 (GRCm39) |
N4S |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,781 (GRCm39) |
S356P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,891,829 (GRCm39) |
Y903C |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,268,795 (GRCm39) |
F333V |
probably damaging |
Het |
|
| Other mutations in Btrc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation