Incidental Mutation 'R5321:Btrc'
| ID |
406131 |
| 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 |
042904-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5321 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
45352173-45518452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45496197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 211
(V211M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065601]
[ENSMUST00000111936]
[ENSMUST00000223684]
[ENSMUST00000223764]
[ENSMUST00000224478]
|
| AlphaFold |
Q3ULA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065601
AA Change: V211M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217
AA Change: V211M
| 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 |
possibly damaging
Transcript: ENSMUST00000111936
AA Change: V175M
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217
AA Change: V175M
| 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 benign
Transcript: ENSMUST00000223764
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224478
AA Change: V112M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225662
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,218,651 (GRCm39) |
F72L |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,805,664 (GRCm39) |
Y1081N |
unknown |
Het |
| Cryzl1 |
T |
C |
16: 91,504,118 (GRCm39) |
Y109C |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,941,669 (GRCm39) |
S352T |
probably benign |
Het |
| Dzip3 |
T |
G |
16: 48,778,038 (GRCm39) |
T349P |
possibly damaging |
Het |
| Endou |
A |
G |
15: 97,618,913 (GRCm39) |
V37A |
probably damaging |
Het |
| Exosc1 |
A |
T |
19: 41,912,499 (GRCm39) |
C129* |
probably null |
Het |
| Flywch1 |
C |
G |
17: 23,975,625 (GRCm39) |
R539P |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,298 (GRCm39) |
T322I |
probably damaging |
Het |
| Lcor |
G |
T |
19: 41,573,643 (GRCm39) |
W799C |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,553,853 (GRCm39) |
V857M |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,862 (GRCm39) |
N195S |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,898,785 (GRCm39) |
Q160R |
probably damaging |
Het |
| Phtf1 |
C |
T |
3: 103,910,827 (GRCm39) |
T606I |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Scrt1 |
T |
C |
15: 76,403,370 (GRCm39) |
S207G |
unknown |
Het |
| Slc15a5 |
G |
T |
6: 137,964,436 (GRCm39) |
N496K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 23,996,614 (GRCm39) |
I40F |
possibly damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,177,519 (GRCm39) |
V945G |
probably damaging |
Het |
| Tdrkh |
C |
A |
3: 94,332,965 (GRCm39) |
L169I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,865 (GRCm39) |
C35R |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,787,219 (GRCm39) |
R33* |
probably null |
Het |
| Trpv2 |
T |
A |
11: 62,475,397 (GRCm39) |
L270H |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,757,260 (GRCm39) |
L468P |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,844,805 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,427 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn1r24 |
A |
T |
6: 57,933,182 (GRCm39) |
L112* |
probably null |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,592 (GRCm39) |
L89P |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,143,505 (GRCm39) |
A815E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,595 (GRCm39) |
L416H |
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 |
|
|
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 |
|
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'- TGTTTGAGCAAAGCTGGACC -3'
(R):5'- TACAGACGATGCGCAGTGAC -3'
Sequencing Primer
(F):5'- AAAGCTGGACCACGCTG -3'
(R):5'- TGGCTCCTGACACTTGGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation