Incidental Mutation 'IGL02719:Btrc'
| ID |
304913 |
| 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 # |
IGL02719
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45352173-45518452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45491589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 89
(I89M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065601]
[ENSMUST00000111936]
[ENSMUST00000223684]
[ENSMUST00000223764]
[ENSMUST00000224478]
|
| AlphaFold |
Q3ULA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065601
AA Change: I181M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217
AA Change: I181M
| 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: I145M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217
AA Change: I145M
| 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: ENSMUST00000223684
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223764
AA Change: I89M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224478
AA Change: I82M
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,150 (GRCm39) |
D160G |
probably damaging |
Het |
| Aak1 |
A |
G |
6: 86,936,152 (GRCm39) |
|
probably benign |
Het |
| Anp32e |
A |
G |
3: 95,845,224 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
T |
A |
11: 120,568,405 (GRCm39) |
L61Q |
probably damaging |
Het |
| Ccdc175 |
G |
A |
12: 72,221,899 (GRCm39) |
T141M |
probably damaging |
Het |
| Cep70 |
G |
A |
9: 99,157,775 (GRCm39) |
V225I |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,047,301 (GRCm39) |
E67G |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,281,950 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,920,137 (GRCm39) |
Y214C |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,268,406 (GRCm39) |
|
probably null |
Het |
| Cul2 |
C |
T |
18: 3,434,052 (GRCm39) |
A683V |
probably damaging |
Het |
| Ddx47 |
A |
G |
6: 134,994,114 (GRCm39) |
N131D |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,138,768 (GRCm39) |
|
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,642,737 (GRCm39) |
L446P |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,106,317 (GRCm39) |
T58A |
possibly damaging |
Het |
| Erlin2 |
A |
G |
8: 27,519,703 (GRCm39) |
|
probably benign |
Het |
| Fermt2 |
T |
C |
14: 45,742,113 (GRCm39) |
T78A |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,127,438 (GRCm39) |
G97* |
probably null |
Het |
| Gm7356 |
A |
G |
17: 14,221,537 (GRCm39) |
I164T |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,894,719 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
T |
17: 79,122,969 (GRCm39) |
R670H |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,475 (GRCm39) |
D146E |
possibly damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,779,324 (GRCm39) |
F125L |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,033 (GRCm39) |
M411L |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,409,094 (GRCm39) |
S11G |
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,915,991 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Musk |
A |
C |
4: 58,356,496 (GRCm39) |
N469H |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,413,349 (GRCm39) |
|
probably benign |
Het |
| Nagpa |
A |
G |
16: 5,019,357 (GRCm39) |
V46A |
possibly damaging |
Het |
| Or4k37 |
T |
A |
2: 111,159,590 (GRCm39) |
Y275* |
probably null |
Het |
| Or5h25 |
T |
A |
16: 58,930,536 (GRCm39) |
T146S |
probably benign |
Het |
| Or8g17 |
T |
C |
9: 38,930,312 (GRCm39) |
N175S |
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,538,021 (GRCm39) |
V222E |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,105,483 (GRCm39) |
S472T |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,134,490 (GRCm39) |
S1314P |
probably damaging |
Het |
| Pgc |
A |
G |
17: 48,039,792 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,665 (GRCm39) |
C189R |
probably damaging |
Het |
| Pla2g15 |
G |
T |
8: 106,886,828 (GRCm39) |
Q106H |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,064,019 (GRCm39) |
S93T |
probably damaging |
Het |
| Rbks |
G |
T |
5: 31,809,145 (GRCm39) |
|
probably benign |
Het |
| Retsat |
A |
G |
6: 72,580,642 (GRCm39) |
T207A |
possibly damaging |
Het |
| Slc25a32 |
A |
G |
15: 38,963,300 (GRCm39) |
Y174H |
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,717,026 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Sos2 |
A |
G |
12: 69,663,958 (GRCm39) |
Y476H |
probably benign |
Het |
| Ssh2 |
A |
T |
11: 77,316,413 (GRCm39) |
N296I |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,459,601 (GRCm39) |
R3320L |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,047,192 (GRCm39) |
I166V |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 43,979,391 (GRCm39) |
V96A |
probably benign |
Het |
| Vmn2r3 |
A |
T |
3: 64,183,031 (GRCm39) |
W223R |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,146,089 (GRCm39) |
|
probably null |
Het |
| Zfr2 |
T |
A |
10: 81,080,546 (GRCm39) |
C407S |
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 |
|
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 |
Incidental Mutation