Incidental Mutation 'R4535:Fbxl21'
| ID |
333299 |
| 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 # |
R4535 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
56670285-56685711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56674873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 49
(V49I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045428]
[ENSMUST00000121095]
[ENSMUST00000121871]
[ENSMUST00000124981]
[ENSMUST00000128668]
|
| AlphaFold |
Q8BFZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045428
AA Change: V49I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035248
Gene: ENSMUSG00000035509
AA Change: V49I
| 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: V75I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112714
Gene: ENSMUSG00000035509
AA Change: V75I
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
71 |
111 |
4.77e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121871
AA Change: V75I
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112518
Gene: ENSMUSG00000035509
AA Change: V75I
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Azin1 |
A |
T |
15: 38,493,849 (GRCm39) |
I258N |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,989,574 (GRCm39) |
A383V |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,847,414 (GRCm39) |
F250Y |
probably benign |
Het |
| Clcn4 |
T |
A |
7: 7,290,813 (GRCm39) |
Y662F |
probably benign |
Het |
| Cpa2 |
T |
C |
6: 30,552,020 (GRCm39) |
V249A |
probably benign |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,511 (GRCm39) |
Y365H |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,322 (GRCm39) |
E457G |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,457,822 (GRCm39) |
Y60* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fam178b |
A |
T |
1: 36,639,606 (GRCm39) |
D293E |
probably benign |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,736 (GRCm39) |
E82G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,439,531 (GRCm39) |
I5434T |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Iqsec3 |
T |
C |
6: 121,356,977 (GRCm39) |
K1035E |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,223,174 (GRCm39) |
V102D |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,016 (GRCm39) |
T295A |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,871,611 (GRCm39) |
D397V |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,081,013 (GRCm39) |
V585A |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,602,627 (GRCm39) |
T594A |
probably damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Sesn3 |
C |
A |
9: 14,233,954 (GRCm39) |
T309K |
probably benign |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
| Srsf4 |
A |
G |
4: 131,601,175 (GRCm39) |
K34R |
probably damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Utp3 |
T |
C |
5: 88,703,458 (GRCm39) |
V329A |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,541 (GRCm39) |
W204R |
probably damaging |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably damaging |
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 |
|
R3733:Fbxl21
|
UTSW |
13 |
56,674,830 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- ACTGAAGATGTGCAGCGTGC -3'
Sequencing Primer
(F):5'- GTAAGATGACTGCTAGAATTGTGTC -3'
(R):5'- GCAGCGTGCTTTTTGATGATC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation