Incidental Mutation 'IGL02945:Fbxl21'
| ID |
364712 |
| 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 # |
IGL02945
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
56670285-56685711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56674983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 111
(F111L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045428]
[ENSMUST00000121095]
[ENSMUST00000121871]
[ENSMUST00000124981]
[ENSMUST00000128668]
|
| AlphaFold |
Q8BFZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045428
AA Change: F85L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035248
Gene: ENSMUSG00000035509
AA Change: F85L
| 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 damaging
Transcript: ENSMUST00000121095
AA Change: F111L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112714
Gene: ENSMUSG00000035509
AA Change: F111L
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
71 |
111 |
4.77e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121871
AA Change: F111L
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112518
Gene: ENSMUSG00000035509
AA Change: F111L
| 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
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
A |
T |
10: 51,633,095 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrf4 |
T |
C |
17: 42,978,257 (GRCm39) |
Q362R |
probably benign |
Het |
| Akap6 |
A |
G |
12: 52,927,620 (GRCm39) |
N177D |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,597,915 (GRCm39) |
I914V |
probably damaging |
Het |
| Arhgap11a |
A |
T |
2: 113,667,818 (GRCm39) |
S394R |
possibly damaging |
Het |
| Cacna1h |
C |
T |
17: 25,607,033 (GRCm39) |
V962I |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,192,401 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ccnf |
T |
C |
17: 24,443,890 (GRCm39) |
E626G |
probably damaging |
Het |
| Clec10a |
A |
T |
11: 70,061,368 (GRCm39) |
I295F |
possibly damaging |
Het |
| Cop1 |
A |
T |
1: 159,134,259 (GRCm39) |
N167I |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,321,584 (GRCm39) |
Q505K |
possibly damaging |
Het |
| Ctrc |
A |
C |
4: 141,573,563 (GRCm39) |
V6G |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,875,091 (GRCm39) |
R21G |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,270,572 (GRCm39) |
H958R |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,702,514 (GRCm39) |
L11Q |
probably damaging |
Het |
| Erich2 |
A |
G |
2: 70,364,738 (GRCm39) |
T371A |
probably damaging |
Het |
| Grik4 |
G |
T |
9: 42,509,175 (GRCm39) |
T416N |
possibly damaging |
Het |
| Grin3a |
A |
G |
4: 49,792,971 (GRCm39) |
V254A |
possibly damaging |
Het |
| Hat1 |
G |
A |
2: 71,251,037 (GRCm39) |
R195K |
probably benign |
Het |
| Hmgb4 |
A |
C |
4: 128,154,387 (GRCm39) |
Y60* |
probably null |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,337 (GRCm39) |
W53R |
probably damaging |
Het |
| Irs2 |
C |
A |
8: 11,057,781 (GRCm39) |
C217F |
probably damaging |
Het |
| Kcnb1 |
T |
C |
2: 167,030,308 (GRCm39) |
E79G |
probably benign |
Het |
| Lingo3 |
A |
G |
10: 80,670,532 (GRCm39) |
I466T |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,935,783 (GRCm39) |
S3665P |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,646,205 (GRCm39) |
L1926Q |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,399,088 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,245,569 (GRCm39) |
F198L |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,557,697 (GRCm39) |
T63A |
probably damaging |
Het |
| Nle1 |
A |
T |
11: 82,794,910 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 77,636,288 (GRCm39) |
D463V |
probably damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,703 (GRCm39) |
I77N |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,812 (GRCm39) |
I215V |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,048 (GRCm39) |
I126T |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,818,731 (GRCm39) |
I127V |
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,795 (GRCm39) |
I721T |
probably benign |
Het |
| Rps6ka1 |
A |
G |
4: 133,594,510 (GRCm39) |
Y57H |
probably damaging |
Het |
| Scara3 |
T |
A |
14: 66,168,660 (GRCm39) |
D319V |
probably damaging |
Het |
| Selp |
G |
A |
1: 163,961,498 (GRCm39) |
G404S |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,472,836 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,705,080 (GRCm39) |
|
probably null |
Het |
| Spen |
G |
T |
4: 141,221,624 (GRCm39) |
L325I |
unknown |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,315,970 (GRCm39) |
S326R |
possibly damaging |
Het |
| Tmem255b |
T |
C |
8: 13,505,141 (GRCm39) |
S149P |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,743,075 (GRCm39) |
S95T |
possibly damaging |
Het |
| Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,582,316 (GRCm39) |
I22859N |
probably damaging |
Het |
| Zfp319 |
A |
T |
8: 96,050,446 (GRCm39) |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation