Incidental Mutation 'R1882:Btrc'
| ID |
209216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btrc
|
| Ensembl Gene |
ENSMUSG00000025217 |
| Gene Name |
beta-transducin repeat containing protein |
| Synonyms |
Beta-Trcp1, Fbw1a, SCF b-TRCP, beta-TrCP, Slimb |
| MMRRC Submission |
039903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
45352173-45518452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45515839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 562
(R562Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065601]
[ENSMUST00000111936]
[ENSMUST00000224478]
|
| AlphaFold |
Q3ULA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065601
AA Change: R598Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217
AA Change: R598Q
| 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: R562Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217
AA Change: R562Q
| 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 |
possibly damaging
Transcript: ENSMUST00000224478
AA Change: R499Q
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.2712 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (59/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,786,945 (GRCm39) |
S189P |
probably benign |
Het |
| Adgrg3 |
G |
T |
8: 95,766,943 (GRCm39) |
V433F |
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,222,234 (GRCm39) |
W1233R |
probably damaging |
Het |
| Brf2 |
T |
C |
8: 27,618,577 (GRCm39) |
D9G |
probably damaging |
Het |
| Cenpu |
T |
C |
8: 47,009,225 (GRCm39) |
F67L |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,790 (GRCm39) |
M150T |
probably damaging |
Het |
| Cntln |
A |
G |
4: 85,019,072 (GRCm39) |
E1254G |
probably damaging |
Het |
| Creld1 |
G |
A |
6: 113,469,166 (GRCm39) |
C332Y |
probably damaging |
Het |
| Ctla2a |
A |
G |
13: 61,083,355 (GRCm39) |
|
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,785,043 (GRCm39) |
D223E |
probably benign |
Het |
| Ext1 |
C |
A |
15: 52,939,188 (GRCm39) |
L620F |
probably damaging |
Het |
| H2-DMb2 |
C |
T |
17: 34,366,834 (GRCm39) |
R89C |
probably damaging |
Het |
| Klhl32 |
A |
T |
4: 24,743,916 (GRCm39) |
L17* |
probably null |
Het |
| Lats2 |
C |
T |
14: 57,934,811 (GRCm39) |
V640M |
probably damaging |
Het |
| Lrig3 |
G |
A |
10: 125,845,694 (GRCm39) |
V708I |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,686,315 (GRCm39) |
T415A |
probably benign |
Het |
| Mynn |
A |
G |
3: 30,670,962 (GRCm39) |
*611W |
probably null |
Het |
| Nfx1 |
A |
G |
4: 41,009,240 (GRCm39) |
T793A |
possibly damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,116,604 (GRCm39) |
|
noncoding transcript |
Het |
| Nos3 |
T |
C |
5: 24,573,818 (GRCm39) |
V194A |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,167,473 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,154,150 (GRCm39) |
D589G |
probably damaging |
Het |
| Omg |
C |
T |
11: 79,392,545 (GRCm39) |
|
probably benign |
Het |
| Or10v9 |
T |
C |
19: 11,832,835 (GRCm39) |
T161A |
probably damaging |
Het |
| Or14j5 |
T |
C |
17: 38,161,839 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2y17 |
A |
G |
11: 49,231,539 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,519,950 (GRCm39) |
M59K |
probably damaging |
Het |
| P2ry2 |
G |
T |
7: 100,648,058 (GRCm39) |
Y82* |
probably null |
Het |
| Pcdh1 |
T |
C |
18: 38,335,895 (GRCm39) |
T247A |
possibly damaging |
Het |
| Pecr |
A |
T |
1: 72,314,136 (GRCm39) |
|
probably null |
Het |
| Pgm3 |
A |
G |
9: 86,447,743 (GRCm39) |
Y167H |
possibly damaging |
Het |
| Pramel15 |
A |
T |
4: 144,103,485 (GRCm39) |
C214S |
probably benign |
Het |
| Prmt2 |
T |
C |
10: 76,058,302 (GRCm39) |
H169R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,506,251 (GRCm39) |
S58T |
possibly damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,230,925 (GRCm39) |
S217P |
probably benign |
Het |
| Slco1a8 |
C |
A |
6: 141,939,363 (GRCm39) |
|
probably null |
Het |
| Snx27 |
G |
A |
3: 94,426,416 (GRCm39) |
T361I |
probably damaging |
Het |
| St7l |
A |
G |
3: 104,775,363 (GRCm39) |
T80A |
probably damaging |
Het |
| Stk32b |
T |
A |
5: 37,689,031 (GRCm39) |
M98L |
possibly damaging |
Het |
| Tonsl |
C |
A |
15: 76,508,350 (GRCm39) |
A6S |
possibly damaging |
Het |
| Tpx2 |
A |
G |
2: 152,711,611 (GRCm39) |
R49G |
probably benign |
Het |
| Trmt2a |
A |
G |
16: 18,067,758 (GRCm39) |
K144E |
possibly damaging |
Het |
| Trpm7 |
A |
C |
2: 126,654,697 (GRCm39) |
L1414V |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,580,939 (GRCm39) |
K107E |
possibly damaging |
Het |
| Vamp3 |
A |
T |
4: 151,135,366 (GRCm39) |
|
probably benign |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,651 (GRCm39) |
S179P |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,963 (GRCm39) |
M269V |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,464,476 (GRCm39) |
T605A |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,615,520 (GRCm39) |
T134A |
possibly damaging |
Het |
| Zfp277 |
T |
C |
12: 40,495,745 (GRCm39) |
E5G |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCTGAGCCTCTCTGTAGGC -3'
(R):5'- GTTGTACAGGGATGGGTGACAC -3'
Sequencing Primer
(F):5'- TCTGTAGGCTCCTTCAAACAAAGAGG -3'
(R):5'- TGGGTGACACAAATGGTCTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation