Incidental Mutation 'R7760:Fbxl21'
ID |
597813 |
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 |
MMRRC Submission |
045816-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7760 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
56670285-56685711 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56674747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 33
(S33P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045428]
[ENSMUST00000121095]
[ENSMUST00000121871]
[ENSMUST00000124981]
[ENSMUST00000128668]
|
AlphaFold |
Q8BFZ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045428
AA Change: S7P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035248 Gene: ENSMUSG00000035509 AA Change: S7P
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: S33P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000112714 Gene: ENSMUSG00000035509 AA Change: S33P
Domain | Start | End | E-Value | Type |
FBOX
|
71 |
111 |
4.77e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121871
AA Change: S33P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000112518 Gene: ENSMUSG00000035509 AA Change: S33P
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa11 |
C |
T |
14: 25,873,251 (GRCm39) |
Q162* |
probably null |
Het |
Arg1 |
T |
G |
10: 24,803,361 (GRCm39) |
|
probably benign |
Het |
Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
Capg |
A |
G |
6: 72,534,769 (GRCm39) |
R199G |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,450 (GRCm39) |
E338V |
probably damaging |
Het |
Clec4d |
A |
G |
6: 123,247,300 (GRCm39) |
N148D |
probably benign |
Het |
Ctr9 |
T |
G |
7: 110,645,808 (GRCm39) |
I653R |
probably damaging |
Het |
Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,240,413 (GRCm39) |
L1510Q |
probably damaging |
Het |
Efcab5 |
T |
A |
11: 77,042,752 (GRCm39) |
E136D |
probably benign |
Het |
Elfn2 |
C |
T |
15: 78,558,041 (GRCm39) |
A169T |
probably benign |
Het |
Elp1 |
A |
G |
4: 56,790,892 (GRCm39) |
V287A |
probably benign |
Het |
Esrp2 |
T |
A |
8: 106,860,102 (GRCm39) |
E326D |
probably benign |
Het |
Fbrs |
T |
C |
7: 127,088,572 (GRCm39) |
V718A |
probably damaging |
Het |
Gatad2b |
C |
T |
3: 90,261,776 (GRCm39) |
R461W |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,269,491 (GRCm39) |
C1109S |
probably damaging |
Het |
Gm6882 |
T |
A |
7: 21,161,409 (GRCm39) |
D153V |
probably damaging |
Het |
Golga3 |
A |
G |
5: 110,353,716 (GRCm39) |
E918G |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,773,417 (GRCm39) |
N219S |
probably benign |
Het |
Grpel1 |
G |
T |
5: 36,627,986 (GRCm39) |
R89L |
probably damaging |
Het |
Ighv5-12 |
T |
A |
12: 113,665,795 (GRCm39) |
Q101L |
probably benign |
Het |
Ldb3 |
T |
A |
14: 34,264,460 (GRCm39) |
N590I |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,046,647 (GRCm39) |
V636A |
probably benign |
Het |
Mblac2 |
G |
T |
13: 81,859,996 (GRCm39) |
V117L |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,237,322 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
A |
G |
8: 106,834,973 (GRCm39) |
E773G |
possibly damaging |
Het |
Ngef |
T |
C |
1: 87,468,495 (GRCm39) |
D88G |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,388,186 (GRCm39) |
E478G |
probably damaging |
Het |
Or2t6 |
T |
C |
14: 14,175,905 (GRCm38) |
Y59C |
probably damaging |
Het |
Pbx4 |
C |
A |
8: 70,285,445 (GRCm39) |
D29E |
probably benign |
Het |
Pcdhgb5 |
A |
G |
18: 37,864,690 (GRCm39) |
I162V |
not run |
Het |
Pdcd11 |
G |
A |
19: 47,101,637 (GRCm39) |
V941M |
possibly damaging |
Het |
Pigr |
A |
T |
1: 130,774,368 (GRCm39) |
R449S |
possibly damaging |
Het |
Plcb2 |
T |
C |
2: 118,541,869 (GRCm39) |
T914A |
probably benign |
Het |
Ppp5c |
A |
G |
7: 16,740,274 (GRCm39) |
S387P |
probably damaging |
Het |
Rnf7l |
T |
C |
10: 63,257,316 (GRCm39) |
K68R |
probably damaging |
Het |
Rtkn2 |
T |
G |
10: 67,841,439 (GRCm39) |
S196A |
probably damaging |
Het |
Sec31a |
A |
G |
5: 100,540,487 (GRCm39) |
F400L |
probably damaging |
Het |
Senp7 |
A |
T |
16: 55,959,442 (GRCm39) |
M251L |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,596,365 (GRCm39) |
F612L |
probably benign |
Het |
Slc7a9 |
T |
C |
7: 35,156,500 (GRCm39) |
I314T |
possibly damaging |
Het |
Smc5 |
A |
C |
19: 23,213,254 (GRCm39) |
S553A |
probably benign |
Het |
Spaca3 |
T |
A |
11: 80,755,389 (GRCm39) |
V133D |
probably damaging |
Het |
Taco1 |
T |
A |
11: 105,963,938 (GRCm39) |
D232E |
possibly damaging |
Het |
Tarbp1 |
C |
T |
8: 127,179,546 (GRCm39) |
R664H |
not run |
Het |
Tlk2 |
T |
C |
11: 105,169,993 (GRCm39) |
I674T |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,931,911 (GRCm39) |
E2148V |
probably damaging |
Het |
Tom1l2 |
T |
C |
11: 60,165,791 (GRCm39) |
S59G |
probably benign |
Het |
Traj46 |
A |
T |
14: 54,409,813 (GRCm39) |
H7L |
|
Het |
Traj46 |
T |
G |
14: 54,409,814 (GRCm39) |
H7Q |
|
Het |
Trav6-4 |
T |
A |
14: 53,692,103 (GRCm39) |
L70Q |
possibly damaging |
Het |
Trmt1l |
C |
T |
1: 151,318,425 (GRCm39) |
T245I |
possibly damaging |
Het |
Wac |
T |
A |
18: 7,921,913 (GRCm39) |
C601S |
probably benign |
Het |
Wnt3 |
T |
A |
11: 103,702,266 (GRCm39) |
H145Q |
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,628 (GRCm39) |
C607R |
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 |
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 |
|
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'- CACCAATCAATGCGTGGAATG -3'
(R):5'- CCTCCAAAGATCAGGGATGTGG -3'
Sequencing Primer
(F):5'- GTAAGATGACTGCTAGAATTGTGTC -3'
(R):5'- GATCAGGGATGTGGAATACTTCATTC -3'
|
Posted On |
2019-11-26 |