Incidental Mutation 'IGL02508:Fbxl13'
| ID |
296473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 21761803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035651]
[ENSMUST00000051358]
[ENSMUST00000115234]
|
| AlphaFold |
Q8CDU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035651
|
| SMART Domains |
Protein: ENSMUSP00000038569
Gene: ENSMUSG00000039883
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
Blast:LRR
|
83 |
105 |
8e-6 |
BLAST |
|
LRR
|
106 |
129 |
9.96e-1 |
SMART |
|
LRR
|
130 |
153 |
1.07e0 |
SMART |
|
LRRCT
|
165 |
215 |
8.98e-4 |
SMART |
|
LRR
|
270 |
292 |
8.73e1 |
SMART |
|
LRR
|
293 |
316 |
3.52e-1 |
SMART |
|
LRR
|
317 |
340 |
7.55e-1 |
SMART |
|
LRRCT
|
352 |
403 |
8.95e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000051358
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
| 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 null
Transcript: ENSMUST00000115234
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199277
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061I17Rik |
T |
A |
3: 116,870,764 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrv1 |
A |
T |
13: 81,583,675 (GRCm39) |
|
probably benign |
Het |
| AI429214 |
T |
G |
8: 37,461,240 (GRCm39) |
D129E |
probably benign |
Het |
| Alx1 |
G |
A |
10: 102,858,054 (GRCm39) |
T215M |
probably damaging |
Het |
| Arhgap39 |
A |
G |
15: 76,609,184 (GRCm39) |
*1079Q |
probably null |
Het |
| Brca2 |
T |
C |
5: 150,466,773 (GRCm39) |
V2179A |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,824,559 (GRCm39) |
E91G |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,914,818 (GRCm39) |
Q1052* |
probably null |
Het |
| Chd5 |
A |
G |
4: 152,447,481 (GRCm39) |
E510G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 46,211,254 (GRCm39) |
D556G |
probably damaging |
Het |
| Cux2 |
G |
A |
5: 121,998,885 (GRCm39) |
P1352S |
possibly damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,428,261 (GRCm39) |
Y319F |
probably damaging |
Het |
| Dcaf12 |
C |
T |
4: 41,296,310 (GRCm39) |
|
probably null |
Het |
| Dcc |
C |
A |
18: 71,503,773 (GRCm39) |
A942S |
probably benign |
Het |
| Dyrk1a |
A |
T |
16: 94,486,042 (GRCm39) |
D463V |
probably damaging |
Het |
| Eln |
T |
A |
5: 134,733,422 (GRCm39) |
|
probably benign |
Het |
| Fndc3b |
T |
C |
3: 27,512,900 (GRCm39) |
Y742C |
probably damaging |
Het |
| Furin |
G |
A |
7: 80,042,269 (GRCm39) |
T442I |
probably benign |
Het |
| Gli1 |
T |
C |
10: 127,172,961 (GRCm39) |
Q155R |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,538,179 (GRCm39) |
E218G |
probably benign |
Het |
| Grb10 |
C |
T |
11: 11,896,767 (GRCm39) |
V236M |
probably damaging |
Het |
| Grhl2 |
T |
C |
15: 37,310,009 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
A |
T |
5: 35,204,564 (GRCm39) |
M579L |
probably damaging |
Het |
| Ifi202b |
A |
T |
1: 173,802,338 (GRCm39) |
D165E |
probably benign |
Het |
| Klhl26 |
A |
T |
8: 70,905,381 (GRCm39) |
D95E |
probably damaging |
Het |
| Klk12 |
T |
C |
7: 43,419,113 (GRCm39) |
V26A |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,333,774 (GRCm39) |
G1489D |
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,574 (GRCm39) |
S344C |
probably damaging |
Het |
| Lzts1 |
G |
A |
8: 69,593,500 (GRCm39) |
R36* |
probably null |
Het |
| Mapkap1 |
T |
C |
2: 34,408,681 (GRCm39) |
|
probably benign |
Het |
| Meis3 |
T |
A |
7: 15,912,722 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
A |
6: 113,217,267 (GRCm39) |
C60S |
probably damaging |
Het |
| Nfkb1 |
T |
A |
3: 135,296,579 (GRCm39) |
Y789F |
probably damaging |
Het |
| Nup54 |
G |
A |
5: 92,565,398 (GRCm39) |
Q440* |
probably null |
Het |
| Ogdhl |
T |
G |
14: 32,067,131 (GRCm39) |
M861R |
probably damaging |
Het |
| Or13c7b |
T |
C |
4: 43,821,289 (GRCm39) |
E24G |
possibly damaging |
Het |
| Or4d10 |
G |
T |
19: 12,051,251 (GRCm39) |
H248Q |
possibly damaging |
Het |
| Or4k42 |
C |
T |
2: 111,320,180 (GRCm39) |
A108T |
probably damaging |
Het |
| Or52w1 |
A |
T |
7: 105,017,743 (GRCm39) |
H61L |
possibly damaging |
Het |
| Or6c69b |
A |
G |
10: 129,626,660 (GRCm39) |
V266A |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,145,948 (GRCm39) |
K412R |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,047,051 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
T |
1: 130,778,595 (GRCm39) |
I760L |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,691,590 (GRCm39) |
N378D |
probably benign |
Het |
| Prr14l |
G |
A |
5: 32,988,286 (GRCm39) |
A403V |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,471,268 (GRCm39) |
D968G |
probably damaging |
Het |
| Psmc5 |
T |
C |
11: 106,153,869 (GRCm39) |
I401T |
possibly damaging |
Het |
| Ralyl |
T |
A |
3: 14,172,332 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,374,798 (GRCm39) |
E821G |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,973,802 (GRCm39) |
I370F |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,396,870 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
T |
A |
9: 102,951,615 (GRCm39) |
F381L |
probably benign |
Het |
| Strada |
A |
G |
11: 106,059,182 (GRCm39) |
Y199H |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,682,531 (GRCm39) |
I40T |
probably damaging |
Het |
| Tbx3 |
T |
C |
5: 119,816,877 (GRCm39) |
V358A |
possibly damaging |
Het |
| Tenm3 |
A |
G |
8: 48,752,674 (GRCm39) |
L896S |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,835,882 (GRCm39) |
S883P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,818,190 (GRCm39) |
I496T |
possibly damaging |
Het |
| Unc79 |
C |
T |
12: 103,078,535 (GRCm39) |
R1548W |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,277 (GRCm39) |
|
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,067 (GRCm39) |
M194V |
possibly damaging |
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 |
|
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 |
|
R8036:Fbxl13
|
UTSW |
5 |
21,728,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation