Incidental Mutation 'R6252:Fbxl13'
| ID |
506278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| MMRRC Submission |
044369-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21826499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 96
(M96L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000115234]
|
| AlphaFold |
Q8CDU4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051358
AA Change: M96L
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: M96L
| 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 |
possibly damaging
Transcript: ENSMUST00000115234
AA Change: M96L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
AA Change: M96L
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,305 (GRCm39) |
I393V |
probably benign |
Het |
| Agl |
C |
T |
3: 116,580,878 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,620,561 (GRCm39) |
E1097G |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,015 (GRCm39) |
H297R |
probably benign |
Het |
| AW146154 |
G |
A |
7: 41,130,811 (GRCm39) |
P102S |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,766,193 (GRCm39) |
V15A |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,828 (GRCm39) |
N95S |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
| Col8a1 |
A |
G |
16: 57,447,368 (GRCm39) |
V714A |
unknown |
Het |
| Crispld1 |
A |
G |
1: 17,819,731 (GRCm39) |
E243G |
probably benign |
Het |
| Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,460,693 (GRCm39) |
Y205H |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,028,382 (GRCm39) |
F1308L |
probably damaging |
Het |
| Eqtn |
A |
T |
4: 94,796,006 (GRCm39) |
S232T |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,347,771 (GRCm39) |
E973G |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,479,869 (GRCm39) |
F1941L |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,259,995 (GRCm39) |
V1050A |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,446,664 (GRCm39) |
H721R |
probably damaging |
Het |
| Idh1 |
T |
G |
1: 65,207,690 (GRCm39) |
Q163P |
probably benign |
Het |
| Kctd15 |
A |
G |
7: 34,341,348 (GRCm39) |
V193A |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,673 (GRCm39) |
Y834C |
probably damaging |
Het |
| Opn4 |
C |
T |
14: 34,316,788 (GRCm39) |
V334I |
probably benign |
Het |
| Or10w3 |
A |
T |
19: 13,704,419 (GRCm39) |
S265C |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,107,649 (GRCm39) |
M687V |
probably benign |
Het |
| Pcdhgc5 |
T |
C |
18: 37,954,583 (GRCm39) |
F619S |
probably damaging |
Het |
| Pdlim2 |
G |
T |
14: 70,405,137 (GRCm39) |
Q243K |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,800,200 (GRCm39) |
L2987P |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,953,329 (GRCm39) |
|
probably null |
Het |
| Prpf6 |
C |
T |
2: 181,289,156 (GRCm39) |
A615V |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,710,373 (GRCm39) |
V5A |
probably benign |
Het |
| Rsph10b |
T |
A |
5: 143,873,939 (GRCm39) |
D13E |
possibly damaging |
Het |
| Slc44a3 |
T |
A |
3: 121,307,386 (GRCm39) |
D200V |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,588 (GRCm39) |
Q4474R |
probably benign |
Het |
| St7l |
T |
C |
3: 104,826,819 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,346 (GRCm39) |
D230V |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,016,210 (GRCm39) |
T3264K |
probably benign |
Het |
| Trp73 |
C |
A |
4: 154,148,854 (GRCm39) |
D252Y |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,737,376 (GRCm39) |
D1056G |
probably benign |
Het |
| Vcan |
C |
T |
13: 89,839,339 (GRCm39) |
W1108* |
probably null |
Het |
| Zfp772 |
G |
T |
7: 7,207,018 (GRCm39) |
S224R |
possibly damaging |
Het |
| Zfp804b |
A |
T |
5: 6,819,478 (GRCm39) |
V1159E |
probably damaging |
Het |
| Zfp981 |
T |
G |
4: 146,621,970 (GRCm39) |
S298R |
probably benign |
Het |
| Zmat3 |
A |
G |
3: 32,395,770 (GRCm39) |
F246L |
possibly damaging |
Het |
| Zranb1 |
A |
G |
7: 132,585,633 (GRCm39) |
T720A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGGTTCCCAAGCATATCC -3'
(R):5'- GTAAATGGTGTTCATTCCTCCC -3'
Sequencing Primer
(F):5'- TCCAACTCCAAGGATTTTTGACACG -3'
(R):5'- CCAAGTGCTGGGATTCAAGGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation