Incidental Mutation 'R3733:Fbxl21'
ID |
271100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl21
|
Ensembl Gene |
ENSMUSG00000035509 |
Gene Name |
F-box and leucine-rich repeat protein 21 |
Synonyms |
Psttm, FBXL3B, FBL3B, D630045D17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3733 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
56670285-56685711 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56674830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 60
(H60Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045428]
[ENSMUST00000121095]
[ENSMUST00000121871]
[ENSMUST00000124981]
[ENSMUST00000128668]
|
AlphaFold |
Q8BFZ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045428
AA Change: H34Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035248 Gene: ENSMUSG00000035509 AA Change: H34Q
Domain | Start | End | E-Value | Type |
FBOX
|
45 |
85 |
4.77e-11 |
SMART |
SCOP:d1a4ya_
|
177 |
398 |
3e-3 |
SMART |
Blast:LRR
|
203 |
228 |
2e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121095
AA Change: H60Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000112714 Gene: ENSMUSG00000035509 AA Change: H60Q
Domain | Start | End | E-Value | Type |
FBOX
|
71 |
111 |
4.77e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121871
AA Change: H60Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000112518 Gene: ENSMUSG00000035509 AA Change: H60Q
Domain | Start | End | E-Value | Type |
FBOX
|
71 |
111 |
4.77e-11 |
SMART |
SCOP:d1a4ya_
|
203 |
424 |
2e-3 |
SMART |
Blast:LRR
|
229 |
254 |
2e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124981
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128668
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.3%
|
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 Fbls class and, in addition to an F-box, contains 6 tandem leucine-rich repeats. The amino acid sequence of this protein is highly similar to that of f-box and leucine-rich repeat protein 3A. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Jul 2015] PHENOTYPE: Mice with a point mutation exhibit a short circadian free-running period in constant darkness. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
Adgrl3 |
C |
A |
5: 81,942,793 (GRCm39) |
H1474Q |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,705,075 (GRCm39) |
I1578M |
probably damaging |
Het |
Bcl7b |
A |
G |
5: 135,209,767 (GRCm39) |
T141A |
probably benign |
Het |
Cfap97d1 |
C |
T |
11: 101,879,278 (GRCm39) |
Q17* |
probably null |
Het |
Chrna3 |
T |
C |
9: 54,923,178 (GRCm39) |
K210R |
probably benign |
Het |
Cpsf2 |
T |
C |
12: 101,953,567 (GRCm39) |
I199T |
probably damaging |
Het |
Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
D1Pas1 |
C |
A |
1: 186,700,294 (GRCm39) |
S74R |
probably benign |
Het |
Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,406,306 (GRCm39) |
V1019A |
possibly damaging |
Het |
Fbxw7 |
A |
C |
3: 84,833,014 (GRCm39) |
K19Q |
possibly damaging |
Het |
Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
Gria4 |
C |
T |
9: 4,513,295 (GRCm39) |
M271I |
probably benign |
Het |
Herc1 |
C |
T |
9: 66,352,922 (GRCm39) |
T2136I |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
Itih2 |
A |
T |
2: 10,110,481 (GRCm39) |
F537I |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,284,198 (GRCm39) |
D533G |
probably damaging |
Het |
Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
Lars1 |
T |
C |
18: 42,345,667 (GRCm39) |
E1003G |
probably benign |
Het |
Layn |
T |
A |
9: 50,970,844 (GRCm39) |
N233I |
probably damaging |
Het |
Lgi1 |
T |
C |
19: 38,294,694 (GRCm39) |
Y465H |
probably damaging |
Het |
Lrig1 |
C |
T |
6: 94,588,557 (GRCm39) |
A531T |
possibly damaging |
Het |
Mrps18b |
G |
A |
17: 36,221,759 (GRCm39) |
P97S |
probably damaging |
Het |
Mtx2 |
C |
A |
2: 74,677,606 (GRCm39) |
A22E |
probably damaging |
Het |
Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
Ola1 |
G |
C |
2: 72,987,204 (GRCm39) |
R143G |
probably damaging |
Het |
Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
Pcdh18 |
T |
C |
3: 49,709,240 (GRCm39) |
S692G |
probably benign |
Het |
Pkd2 |
G |
A |
5: 104,637,285 (GRCm39) |
|
probably null |
Het |
Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
Sfxn5 |
T |
C |
6: 85,276,258 (GRCm39) |
|
probably benign |
Het |
Siah2 |
A |
G |
3: 58,583,671 (GRCm39) |
V205A |
probably damaging |
Het |
Spindoc |
A |
C |
19: 7,351,666 (GRCm39) |
L202R |
probably damaging |
Het |
Spock3 |
T |
A |
8: 63,798,733 (GRCm39) |
D251E |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
Trpc3 |
A |
T |
3: 36,692,708 (GRCm39) |
D761E |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wapl |
G |
A |
14: 34,458,721 (GRCm39) |
V928I |
probably damaging |
Het |
Zfand3 |
A |
G |
17: 30,411,630 (GRCm39) |
K130R |
probably benign |
Het |
|
Other mutations in Fbxl21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01669:Fbxl21
|
APN |
13 |
56,675,522 (GRCm39) |
splice site |
probably benign |
|
IGL01972:Fbxl21
|
APN |
13 |
56,684,672 (GRCm39) |
nonsense |
probably null |
|
IGL02450:Fbxl21
|
APN |
13 |
56,674,766 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02667:Fbxl21
|
APN |
13 |
56,684,942 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02945:Fbxl21
|
APN |
13 |
56,674,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R1535:Fbxl21
|
UTSW |
13 |
56,671,340 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R1741:Fbxl21
|
UTSW |
13 |
56,684,915 (GRCm39) |
missense |
probably benign |
0.06 |
R1863:Fbxl21
|
UTSW |
13 |
56,674,876 (GRCm39) |
missense |
probably benign |
0.01 |
R1886:Fbxl21
|
UTSW |
13 |
56,674,906 (GRCm39) |
missense |
probably benign |
0.24 |
R3176:Fbxl21
|
UTSW |
13 |
56,684,935 (GRCm39) |
nonsense |
probably null |
|
R3276:Fbxl21
|
UTSW |
13 |
56,684,935 (GRCm39) |
nonsense |
probably null |
|
R3732:Fbxl21
|
UTSW |
13 |
56,674,830 (GRCm39) |
missense |
probably benign |
0.01 |
R3732:Fbxl21
|
UTSW |
13 |
56,674,830 (GRCm39) |
missense |
probably benign |
0.01 |
R4535:Fbxl21
|
UTSW |
13 |
56,674,873 (GRCm39) |
missense |
probably damaging |
0.99 |
R4678:Fbxl21
|
UTSW |
13 |
56,684,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R5264:Fbxl21
|
UTSW |
13 |
56,680,136 (GRCm39) |
missense |
probably benign |
0.17 |
R5640:Fbxl21
|
UTSW |
13 |
56,685,194 (GRCm39) |
missense |
probably benign |
0.23 |
R5714:Fbxl21
|
UTSW |
13 |
56,674,885 (GRCm39) |
missense |
probably benign |
0.29 |
R6640:Fbxl21
|
UTSW |
13 |
56,684,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R6989:Fbxl21
|
UTSW |
13 |
56,674,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R7140:Fbxl21
|
UTSW |
13 |
56,680,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R7180:Fbxl21
|
UTSW |
13 |
56,671,340 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R7556:Fbxl21
|
UTSW |
13 |
56,674,741 (GRCm39) |
missense |
probably benign |
0.35 |
R7760:Fbxl21
|
UTSW |
13 |
56,684,816 (GRCm39) |
missense |
probably benign |
|
R7760:Fbxl21
|
UTSW |
13 |
56,674,747 (GRCm39) |
missense |
probably benign |
0.00 |
R7911:Fbxl21
|
UTSW |
13 |
56,684,976 (GRCm39) |
missense |
probably damaging |
0.99 |
X0019:Fbxl21
|
UTSW |
13 |
56,680,242 (GRCm39) |
missense |
possibly damaging |
0.82 |
X0026:Fbxl21
|
UTSW |
13 |
56,674,925 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Fbxl21
|
UTSW |
13 |
56,674,816 (GRCm39) |
missense |
probably benign |
0.17 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGTGGAATGTAAGATGACTGC -3'
(R):5'- TGGTTCAGCTCAAACTCAAACTTC -3'
Sequencing Primer
(F):5'- GTAAGATGACTGCTAGAATTGTGTC -3'
(R):5'- CTTCCTCCAAAGATCAGGGATGTG -3'
|
Posted On |
2015-03-18 |