Incidental Mutation 'IGL01972:Fbxl21'
| ID |
181652 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01972
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
56670285-56685711 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 56684672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 259
(R259*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045428]
[ENSMUST00000121871]
[ENSMUST00000128668]
|
| AlphaFold |
Q8BFZ4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045428
AA Change: R233*
|
| SMART Domains |
Protein: ENSMUSP00000035248
Gene: ENSMUSG00000035509
AA Change: R233*
| 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 null
Transcript: ENSMUST00000121871
AA Change: R259*
|
| SMART Domains |
Protein: ENSMUSP00000112518
Gene: ENSMUSG00000035509
AA Change: R259*
| 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: ENSMUST00000128668
|
| 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 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahr |
T |
G |
12: 35,554,448 (GRCm39) |
D557A |
possibly damaging |
Het |
| Akap11 |
T |
C |
14: 78,745,297 (GRCm39) |
Q1697R |
probably damaging |
Het |
| Alpi |
T |
A |
1: 87,027,431 (GRCm39) |
T312S |
probably damaging |
Het |
| Cacna1b |
C |
A |
2: 24,525,107 (GRCm39) |
|
probably null |
Het |
| Car5a |
C |
T |
8: 122,653,821 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,450,883 (GRCm39) |
T841A |
possibly damaging |
Het |
| Eml6 |
A |
T |
11: 29,788,451 (GRCm39) |
F545I |
possibly damaging |
Het |
| Fam114a2 |
G |
A |
11: 57,400,220 (GRCm39) |
T156I |
probably damaging |
Het |
| Fhip1b |
T |
C |
7: 105,039,352 (GRCm39) |
N5S |
probably damaging |
Het |
| Gm5117 |
C |
T |
8: 32,227,787 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
T |
C |
2: 34,873,784 (GRCm39) |
Y1650C |
probably damaging |
Het |
| Med12l |
C |
A |
3: 59,169,314 (GRCm39) |
T1568K |
probably damaging |
Het |
| Mtrex |
T |
C |
13: 113,017,595 (GRCm39) |
K853E |
probably damaging |
Het |
| Or2ag2b |
A |
G |
7: 106,417,739 (GRCm39) |
I150V |
probably benign |
Het |
| Or5g27 |
T |
C |
2: 85,410,117 (GRCm39) |
F178S |
probably damaging |
Het |
| Or6n1 |
G |
T |
1: 173,916,987 (GRCm39) |
C127F |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,277,563 (GRCm39) |
S184G |
probably benign |
Het |
| Padi1 |
A |
G |
4: 140,546,170 (GRCm39) |
|
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,648,988 (GRCm39) |
T357A |
probably benign |
Het |
| Tmem17 |
A |
G |
11: 22,467,265 (GRCm39) |
S60G |
probably benign |
Het |
| Ubqlnl |
G |
T |
7: 103,798,904 (GRCm39) |
Q198K |
probably benign |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,586 (GRCm39) |
Y48* |
probably null |
Het |
| Zfp658 |
G |
A |
7: 43,222,134 (GRCm39) |
W136* |
probably null |
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 |
|
|
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 |
|
R3733: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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation