Incidental Mutation 'IGL03387:Fbxl13'
| ID |
420922 |
| 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 # |
IGL03387
|
| 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 21728796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000115234]
|
| AlphaFold |
Q8CDU4 |
| 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
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
C |
13: 68,878,486 (GRCm39) |
I384S |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,087,273 (GRCm38) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,143,895 (GRCm39) |
V848D |
probably damaging |
Het |
| Cul1 |
G |
T |
6: 47,478,143 (GRCm39) |
L175F |
probably damaging |
Het |
| Cyp4a29 |
A |
G |
4: 115,108,368 (GRCm39) |
H364R |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,465,483 (GRCm39) |
D1380G |
probably damaging |
Het |
| Det1 |
A |
T |
7: 78,493,372 (GRCm39) |
C211S |
possibly damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,559,200 (GRCm39) |
Y822H |
probably damaging |
Het |
| F5 |
A |
C |
1: 164,020,801 (GRCm39) |
Q1092P |
probably damaging |
Het |
| Fam117b |
A |
C |
1: 59,992,119 (GRCm39) |
Y256S |
probably benign |
Het |
| Galnt7 |
A |
G |
8: 57,979,212 (GRCm39) |
I637T |
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,317,671 (GRCm39) |
K120N |
unknown |
Het |
| Hes2 |
A |
G |
4: 152,244,269 (GRCm39) |
K18R |
probably damaging |
Het |
| Icam5 |
A |
T |
9: 20,945,097 (GRCm39) |
Q220L |
probably benign |
Het |
| Kdm8 |
G |
A |
7: 125,054,278 (GRCm39) |
A170T |
probably benign |
Het |
| Krt40 |
G |
A |
11: 99,430,711 (GRCm39) |
A321V |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,828,979 (GRCm39) |
V45D |
probably damaging |
Het |
| Mbip |
A |
G |
12: 56,382,597 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,354,195 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,051 (GRCm39) |
S300P |
probably benign |
Het |
| Nanog |
T |
C |
6: 122,688,731 (GRCm39) |
L104P |
probably damaging |
Het |
| Or10ak11 |
T |
C |
4: 118,687,238 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,457 (GRCm39) |
H104Q |
probably damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,007 (GRCm39) |
Y307F |
probably benign |
Het |
| Or52n2c |
A |
T |
7: 104,574,580 (GRCm39) |
N130K |
probably benign |
Het |
| Oxgr1 |
C |
A |
14: 120,260,199 (GRCm39) |
E3* |
probably null |
Het |
| Pam16 |
A |
T |
16: 4,434,671 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
T |
2: 134,655,606 (GRCm39) |
|
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,969,359 (GRCm39) |
V58E |
probably benign |
Het |
| Slc2a12 |
G |
T |
10: 22,541,134 (GRCm39) |
V330F |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,591,881 (GRCm39) |
E1247G |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,019,508 (GRCm39) |
C519S |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,221,922 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,180 (GRCm39) |
W294R |
possibly damaging |
Het |
| Tex21 |
A |
T |
12: 76,245,694 (GRCm39) |
M534K |
probably damaging |
Het |
| Tmem132c |
T |
C |
5: 127,640,784 (GRCm39) |
I985T |
probably benign |
Het |
| Tmem87b |
T |
C |
2: 128,665,019 (GRCm39) |
V61A |
probably benign |
Het |
| Trhr2 |
G |
A |
8: 123,085,220 (GRCm39) |
|
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,381,208 (GRCm39) |
D1209G |
probably benign |
Het |
| Uchl5 |
A |
G |
1: 143,677,940 (GRCm39) |
E148G |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,970,199 (GRCm39) |
I203V |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,931,148 (GRCm39) |
I799V |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation