Incidental Mutation 'R8912:Fbxl13'
| ID |
678678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| MMRRC Submission |
068765-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8912 (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 G
at 21727184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 571
(D571A)
|
| 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: D571A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: D571A
| 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 benign
Transcript: ENSMUST00000115234
AA Change: D604A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
AA Change: D604A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
C |
T |
5: 113,861,767 (GRCm39) |
W34* |
probably null |
Het |
| Adck5 |
T |
C |
15: 76,477,435 (GRCm39) |
S90P |
probably damaging |
Het |
| Adgra3 |
C |
A |
5: 50,118,273 (GRCm39) |
A1092S |
possibly damaging |
Het |
| Arhgap33 |
A |
T |
7: 30,232,467 (GRCm39) |
|
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp6ap1l |
T |
A |
13: 91,046,979 (GRCm39) |
|
probably null |
Het |
| Brd2 |
A |
T |
17: 34,332,458 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,260,097 (GRCm39) |
|
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,599 (GRCm39) |
V108A |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,779,323 (GRCm39) |
V320A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,689,869 (GRCm39) |
H22L |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,468,513 (GRCm39) |
Y251C |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,715,878 (GRCm39) |
N273K |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,531,164 (GRCm39) |
V137A |
possibly damaging |
Het |
| Ercc6 |
C |
T |
14: 32,248,211 (GRCm39) |
P254L |
probably benign |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,240,420 (GRCm39) |
E789G |
possibly damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,561,717 (GRCm39) |
E159V |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 8,019,778 (GRCm39) |
I134V |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,810,938 (GRCm39) |
D2419G |
probably benign |
Het |
| Gm3371 |
T |
C |
14: 44,641,238 (GRCm39) |
K109E |
|
Het |
| Gm5414 |
A |
G |
15: 101,536,620 (GRCm39) |
S2P |
possibly damaging |
Het |
| Igkv1-110 |
G |
T |
6: 68,247,950 (GRCm39) |
D20Y |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ippk |
A |
G |
13: 49,603,513 (GRCm39) |
D422G |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,056,655 (GRCm39) |
D592E |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,159,368 (GRCm39) |
I215T |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,424 (GRCm39) |
L590Q |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,680,929 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
G |
18: 86,479,173 (GRCm39) |
D159G |
probably damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,220,030 (GRCm38) |
K104E |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,645,366 (GRCm39) |
V1256A |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
| Or13e8 |
T |
A |
4: 43,697,017 (GRCm39) |
D52V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
| Or9m1b |
C |
T |
2: 87,836,661 (GRCm39) |
A145T |
possibly damaging |
Het |
| Patj |
A |
G |
4: 98,385,565 (GRCm39) |
H444R |
|
Het |
| Pclo |
T |
C |
5: 14,825,335 (GRCm39) |
L1356P |
|
Het |
| Pde4dip |
A |
G |
3: 97,617,633 (GRCm39) |
S1732P |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,230 (GRCm39) |
I25N |
|
Het |
| Pira13 |
A |
T |
7: 3,825,818 (GRCm39) |
D350E |
unknown |
Het |
| Pou2f3 |
C |
A |
9: 43,110,336 (GRCm39) |
V30L |
probably benign |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Reck |
T |
A |
4: 43,938,802 (GRCm39) |
|
probably benign |
Het |
| Sdha |
A |
T |
13: 74,475,323 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
C |
10: 57,400,075 (GRCm39) |
S191A |
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,056,560 (GRCm39) |
S915P |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,243,486 (GRCm39) |
T79A |
probably damaging |
Het |
| Sik1 |
A |
G |
17: 32,069,919 (GRCm39) |
V207A |
possibly damaging |
Het |
| Skap1 |
A |
T |
11: 96,644,902 (GRCm39) |
I338F |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,305,361 (GRCm39) |
|
probably benign |
Het |
| Sowahc |
G |
T |
10: 59,057,813 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
C |
13: 59,875,136 (GRCm39) |
K800E |
possibly damaging |
Het |
| Spin1 |
T |
A |
13: 51,298,433 (GRCm39) |
W151R |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,623,686 (GRCm39) |
T438A |
possibly damaging |
Het |
| Srrm2 |
A |
G |
17: 24,038,575 (GRCm39) |
T1740A |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,534,014 (GRCm39) |
S347C |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,566,860 (GRCm39) |
S185P |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,758,153 (GRCm39) |
T638I |
probably benign |
Het |
| Tdrkh |
T |
C |
3: 94,336,478 (GRCm39) |
Y472H |
probably damaging |
Het |
| Trav4-2 |
C |
G |
14: 53,656,266 (GRCm39) |
Y89* |
probably null |
Het |
| Trpm1 |
G |
T |
7: 63,918,628 (GRCm39) |
R1540L |
probably benign |
Het |
| Ttc21a |
T |
C |
9: 119,770,367 (GRCm39) |
|
probably null |
Het |
| Tti1 |
A |
G |
2: 157,851,188 (GRCm39) |
V17A |
probably benign |
Het |
| Vamp8 |
A |
G |
6: 72,365,276 (GRCm39) |
L44P |
probably benign |
Het |
| Vmn1r63 |
G |
T |
7: 5,806,131 (GRCm39) |
S167Y |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,891,913 (GRCm39) |
V710A |
probably benign |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zfyve28 |
T |
C |
5: 34,374,655 (GRCm39) |
D453G |
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 |
|
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'- CAGCGTTTATCACTATTCTGGGGAC -3'
(R):5'- TTCGGTTGAGGAAAGGAGAATTCC -3'
Sequencing Primer
(F):5'- TCACTATTCTGGGGACATATTCTTAC -3'
(R):5'- GGAGAATTCCTTCTTCCACACC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation