Incidental Mutation 'R8036:Fbxl13'
| ID |
618230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| MMRRC Submission |
067473-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8036 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21728566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 508
(N508Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000115234]
|
| AlphaFold |
Q8CDU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051358
AA Change: N508Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: N508Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
|
FBOX
|
243 |
283 |
3.73e-4 |
SMART |
|
LRR_CC
|
328 |
353 |
6.62e-6 |
SMART |
|
LRR
|
354 |
378 |
3.67e2 |
SMART |
|
LRR
|
379 |
404 |
2.75e-3 |
SMART |
|
LRR
|
407 |
425 |
4.51e2 |
SMART |
|
LRR
|
426 |
451 |
2.63e0 |
SMART |
|
LRR
|
476 |
501 |
4.15e1 |
SMART |
|
LRR
|
502 |
526 |
1.82e1 |
SMART |
|
LRR
|
529 |
554 |
1.76e-1 |
SMART |
|
LRR_CC
|
555 |
580 |
4.61e-5 |
SMART |
|
LRR
|
604 |
629 |
8.81e-2 |
SMART |
|
LRR
|
630 |
655 |
2.37e1 |
SMART |
|
LRR
|
656 |
681 |
3.21e-4 |
SMART |
|
LRR
|
682 |
707 |
6.57e-1 |
SMART |
|
LRR
|
708 |
733 |
9.47e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115234
AA Change: N541Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
AA Change: N541Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
|
FBOX
|
243 |
283 |
3.73e-4 |
SMART |
|
LRR_CC
|
328 |
353 |
6.62e-6 |
SMART |
|
LRR
|
354 |
378 |
3.67e2 |
SMART |
|
LRR
|
379 |
404 |
2.75e-3 |
SMART |
|
LRR
|
407 |
432 |
6.88e-4 |
SMART |
|
Blast:LRR
|
433 |
458 |
7e-8 |
BLAST |
|
LRR
|
459 |
484 |
2.63e0 |
SMART |
|
LRR
|
509 |
534 |
4.15e1 |
SMART |
|
LRR
|
535 |
559 |
1.82e1 |
SMART |
|
LRR
|
562 |
587 |
1.76e-1 |
SMART |
|
LRR_CC
|
588 |
613 |
4.61e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.4551 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,236,818 (GRCm39) |
V1473A |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,120,397 (GRCm39) |
C3604* |
probably null |
Het |
| Alas1 |
A |
G |
9: 106,112,721 (GRCm39) |
I545T |
probably benign |
Het |
| Anpep |
A |
C |
7: 79,491,646 (GRCm39) |
D118E |
probably benign |
Het |
| Arhgef17 |
A |
T |
7: 100,579,062 (GRCm39) |
S629T |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,266,625 (GRCm39) |
R558C |
probably damaging |
Het |
| Camk2n1 |
A |
G |
4: 138,184,056 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccdc177 |
T |
C |
12: 80,804,897 (GRCm39) |
N459S |
unknown |
Het |
| Cenpe |
ACTCTCT |
ACTCT |
3: 134,945,609 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
C |
1: 139,165,122 (GRCm39) |
I1062V |
probably benign |
Het |
| Decr2 |
A |
G |
17: 26,301,962 (GRCm39) |
L256P |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,501,739 (GRCm39) |
M507V |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,870,803 (GRCm39) |
I539T |
probably damaging |
Het |
| Dqx1 |
T |
A |
6: 83,036,788 (GRCm39) |
V264E |
probably damaging |
Het |
| Enpp4 |
A |
G |
17: 44,413,136 (GRCm39) |
S133P |
possibly damaging |
Het |
| Fam149a |
T |
C |
8: 45,802,048 (GRCm39) |
T476A |
probably benign |
Het |
| Fam20b |
A |
G |
1: 156,533,407 (GRCm39) |
W70R |
probably damaging |
Het |
| Fjx1 |
A |
G |
2: 102,280,720 (GRCm39) |
L405P |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,629,310 (GRCm39) |
Q2399* |
probably null |
Het |
| Foxa2 |
G |
C |
2: 147,885,909 (GRCm39) |
T308S |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm10521 |
A |
G |
1: 171,723,752 (GRCm39) |
D21G |
unknown |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Herpud1 |
A |
G |
8: 95,119,014 (GRCm39) |
E256G |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,528,414 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lamp3 |
C |
A |
16: 19,519,809 (GRCm39) |
D125Y |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,724,823 (GRCm39) |
D128G |
probably damaging |
Het |
| Lyve1 |
A |
G |
7: 110,458,649 (GRCm39) |
C105R |
probably damaging |
Het |
| Mlkl |
A |
T |
8: 112,060,086 (GRCm39) |
V100E |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,421,478 (GRCm39) |
S4323P |
possibly damaging |
Het |
| Myoz3 |
T |
G |
18: 60,713,922 (GRCm39) |
|
probably null |
Het |
| Nlrp9c |
T |
A |
7: 26,070,864 (GRCm39) |
N906Y |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,592,276 (GRCm39) |
D352G |
probably benign |
Het |
| Or10x4 |
A |
G |
1: 174,219,382 (GRCm39) |
H249R |
probably damaging |
Het |
| Or51f23 |
A |
T |
7: 102,452,763 (GRCm39) |
H26L |
possibly damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,186 (GRCm39) |
F223S |
probably benign |
Het |
| Or8w1 |
C |
T |
2: 87,465,847 (GRCm39) |
M81I |
probably benign |
Het |
| Pcsk9 |
G |
A |
4: 106,311,536 (GRCm39) |
H232Y |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,063,380 (GRCm39) |
I2230T |
possibly damaging |
Het |
| Pou2f3 |
T |
A |
9: 43,058,205 (GRCm39) |
T47S |
probably damaging |
Het |
| Rab8a |
A |
T |
8: 72,928,439 (GRCm39) |
I106F |
probably damaging |
Het |
| Relch |
A |
T |
1: 105,605,902 (GRCm39) |
I181F |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 52,041,439 (GRCm39) |
S295T |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,098 (GRCm39) |
N222K |
possibly damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
| Spata20 |
T |
G |
11: 94,369,963 (GRCm39) |
I778L |
probably benign |
Het |
| Taar1 |
A |
T |
10: 23,797,033 (GRCm39) |
T244S |
probably benign |
Het |
| Tmem229b |
C |
A |
12: 79,011,862 (GRCm39) |
C23F |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,718,389 (GRCm39) |
Y80C |
probably benign |
Het |
| Ube2m |
G |
A |
7: 12,769,566 (GRCm39) |
T176I |
probably benign |
Het |
| Zfp790 |
G |
A |
7: 29,528,346 (GRCm39) |
A344T |
possibly damaging |
Het |
| Zfp90 |
G |
A |
8: 107,145,760 (GRCm39) |
V31M |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,949,918 (GRCm39) |
R659Q |
probably benign |
Het |
|
| Other mutations in Fbxl13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01722:Fbxl13
|
APN |
5 |
21,695,412 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02178:Fbxl13
|
APN |
5 |
21,825,718 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02271:Fbxl13
|
APN |
5 |
21,695,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02317:Fbxl13
|
APN |
5 |
21,727,232 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02508:Fbxl13
|
APN |
5 |
21,761,803 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02891:Fbxl13
|
APN |
5 |
21,727,098 (GRCm39) |
splice site |
probably benign |
|
|
IGL03387:Fbxl13
|
APN |
5 |
21,728,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
Laurel
|
UTSW |
5 |
21,787,051 (GRCm39) |
nonsense |
probably null |
|
|
PIT4305001:Fbxl13
|
UTSW |
5 |
21,727,146 (GRCm39) |
missense |
probably benign |
|
|
R0040:Fbxl13
|
UTSW |
5 |
21,691,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Fbxl13
|
UTSW |
5 |
21,691,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Fbxl13
|
UTSW |
5 |
21,728,908 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0597:Fbxl13
|
UTSW |
5 |
21,819,712 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1110:Fbxl13
|
UTSW |
5 |
21,689,034 (GRCm39) |
missense |
probably benign |
|
|
R1172:Fbxl13
|
UTSW |
5 |
21,825,602 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Fbxl13
|
UTSW |
5 |
21,825,602 (GRCm39) |
splice site |
probably benign |
|
|
R1464:Fbxl13
|
UTSW |
5 |
21,688,989 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1464:Fbxl13
|
UTSW |
5 |
21,688,989 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2174:Fbxl13
|
UTSW |
5 |
21,787,046 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2426:Fbxl13
|
UTSW |
5 |
21,727,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4171:Fbxl13
|
UTSW |
5 |
21,748,786 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4413:Fbxl13
|
UTSW |
5 |
21,787,051 (GRCm39) |
nonsense |
probably null |
|
|
R4655:Fbxl13
|
UTSW |
5 |
21,787,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Fbxl13
|
UTSW |
5 |
21,689,001 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5544:Fbxl13
|
UTSW |
5 |
21,729,489 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5979:Fbxl13
|
UTSW |
5 |
21,787,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Fbxl13
|
UTSW |
5 |
21,705,498 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6211:Fbxl13
|
UTSW |
5 |
21,689,019 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6252:Fbxl13
|
UTSW |
5 |
21,826,499 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6336:Fbxl13
|
UTSW |
5 |
21,728,545 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6455:Fbxl13
|
UTSW |
5 |
21,761,812 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6522:Fbxl13
|
UTSW |
5 |
21,766,554 (GRCm39) |
splice site |
probably null |
|
|
R6827:Fbxl13
|
UTSW |
5 |
21,727,176 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6961:Fbxl13
|
UTSW |
5 |
21,748,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Fbxl13
|
UTSW |
5 |
21,825,611 (GRCm39) |
missense |
probably null |
0.03 |
|
R6998:Fbxl13
|
UTSW |
5 |
21,748,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7152:Fbxl13
|
UTSW |
5 |
21,787,065 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7196:Fbxl13
|
UTSW |
5 |
21,691,301 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7418:Fbxl13
|
UTSW |
5 |
21,786,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7490:Fbxl13
|
UTSW |
5 |
21,728,058 (GRCm39) |
nonsense |
probably null |
|
|
R7649:Fbxl13
|
UTSW |
5 |
21,819,664 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7816:Fbxl13
|
UTSW |
5 |
21,748,785 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7954:Fbxl13
|
UTSW |
5 |
21,748,767 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8098:Fbxl13
|
UTSW |
5 |
21,825,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8406:Fbxl13
|
UTSW |
5 |
21,728,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Fbxl13
|
UTSW |
5 |
21,727,184 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9102:Fbxl13
|
UTSW |
5 |
21,837,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9378:Fbxl13
|
UTSW |
5 |
21,790,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9473:Fbxl13
|
UTSW |
5 |
21,790,243 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9553:Fbxl13
|
UTSW |
5 |
21,728,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGCATCTGCTTCTACACC -3'
(R):5'- AAGGTCTGTGACGCTAGAAACTC -3'
Sequencing Primer
(F):5'- GGCATCTGCTTCTACACCAATTATAG -3'
(R):5'- GTGACGCTAGAAACTCAATTTATCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation