Incidental Mutation 'R9553:Fbxl13'
| ID |
720599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21728151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 519
(G519S)
|
| 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: G519S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: G519S
| 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: G552S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
AA Change: G552S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
C |
T |
7: 43,900,334 (GRCm39) |
R80W |
probably damaging |
Het |
| Ankdd1b |
G |
T |
13: 96,591,294 (GRCm39) |
N68K |
possibly damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,619,115 (GRCm39) |
E452G |
probably damaging |
Het |
| Cbx8 |
T |
G |
11: 118,930,964 (GRCm39) |
E45D |
probably damaging |
Het |
| Ceacam15 |
T |
C |
7: 16,407,316 (GRCm39) |
Y67C |
probably damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,723,926 (GRCm39) |
Y570C |
probably damaging |
Het |
| Cnga4 |
A |
G |
7: 105,054,977 (GRCm39) |
Y187C |
probably damaging |
Het |
| Cntrob |
T |
C |
11: 69,205,679 (GRCm39) |
N385S |
probably benign |
Het |
| Coro7 |
A |
G |
16: 4,486,624 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,264,956 (GRCm39) |
Y2150C |
probably damaging |
Het |
| E2f8 |
A |
G |
7: 48,528,394 (GRCm39) |
S25P |
probably damaging |
Het |
| Eif1ad7 |
A |
G |
12: 88,238,476 (GRCm39) |
Y95H |
probably damaging |
Het |
| Eif3d |
T |
C |
15: 77,843,837 (GRCm39) |
E503G |
probably damaging |
Het |
| Elp6 |
T |
A |
9: 110,144,965 (GRCm39) |
V157D |
probably damaging |
Het |
| Entpd3 |
T |
C |
9: 120,387,546 (GRCm39) |
Y248H |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,844,561 (GRCm39) |
E561G |
unknown |
Het |
| Fgfr4 |
T |
G |
13: 55,309,228 (GRCm39) |
S422A |
probably damaging |
Het |
| Flg2 |
G |
A |
3: 93,121,901 (GRCm39) |
C1357Y |
unknown |
Het |
| Fpr3 |
T |
A |
17: 18,191,612 (GRCm39) |
N294K |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,525,048 (GRCm39) |
Q312R |
possibly damaging |
Het |
| Glg1 |
C |
T |
8: 111,926,770 (GRCm39) |
E182K |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,087 (GRCm39) |
D374G |
probably damaging |
Het |
| Ifrd2 |
C |
T |
9: 107,468,285 (GRCm39) |
T251I |
possibly damaging |
Het |
| Igkv4-91 |
C |
T |
6: 68,745,632 (GRCm39) |
G89R |
possibly damaging |
Het |
| Kcnk1 |
C |
A |
8: 126,756,322 (GRCm39) |
Y281* |
probably null |
Het |
| Kcp |
G |
T |
6: 29,485,100 (GRCm39) |
F1217L |
probably null |
Het |
| Lama3 |
G |
A |
18: 12,563,019 (GRCm39) |
G514D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,008,800 (GRCm39) |
L34P |
probably damaging |
Het |
| Mak |
T |
A |
13: 41,183,595 (GRCm39) |
T562S |
probably benign |
Het |
| Nfatc4 |
A |
G |
14: 56,070,259 (GRCm39) |
E879G |
probably damaging |
Het |
| Or5w14 |
A |
T |
2: 87,541,992 (GRCm39) |
V86E |
probably benign |
Het |
| Pcdhb19 |
C |
T |
18: 37,631,848 (GRCm39) |
R548C |
probably damaging |
Het |
| Peli2 |
A |
G |
14: 48,488,150 (GRCm39) |
I165V |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,753,977 (GRCm39) |
M148L |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,637,014 (GRCm39) |
G172R |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,928,310 (GRCm39) |
V537A |
probably damaging |
Het |
| Rnf135 |
T |
A |
11: 80,074,758 (GRCm39) |
S6T |
probably benign |
Het |
| Sirpb1a |
C |
T |
3: 15,476,320 (GRCm39) |
C226Y |
probably damaging |
Het |
| Speg |
A |
C |
1: 75,394,645 (GRCm39) |
I1785L |
probably benign |
Het |
| Spry4 |
T |
C |
18: 38,723,070 (GRCm39) |
N231S |
probably damaging |
Het |
| Tchh |
C |
T |
3: 93,355,125 (GRCm39) |
Q1522* |
probably null |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Trav7d-3 |
G |
T |
14: 52,981,820 (GRCm39) |
|
probably benign |
Het |
| Vmn2r49 |
A |
C |
7: 9,720,849 (GRCm39) |
V214G |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,743 (GRCm39) |
Y32H |
probably benign |
Het |
| Vwf |
A |
C |
6: 125,577,662 (GRCm39) |
D501A |
|
Het |
| Zfp428 |
A |
G |
7: 24,214,866 (GRCm39) |
T161A |
possibly damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTATCACTGATCATGCTCC -3'
(R):5'- CGCAGGTAAGCTAAGAGTCC -3'
Sequencing Primer
(F):5'- ATCACTGATCATGCTCCTATTAGC -3'
(R):5'- GCTAAGAGTCCATTTTAAACTGGGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation