Incidental Mutation 'R0278:Fbxl13'
| ID |
24455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| MMRRC Submission |
038500-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21728908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 456
(V456A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000115234]
|
| AlphaFold |
Q8CDU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051358
AA Change: V423A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: V423A
| 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: V456A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
AA Change: V456A
| 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: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,328,215 (GRCm39) |
S3429R |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,600,894 (GRCm39) |
D436G |
probably benign |
Het |
| Acacb |
C |
A |
5: 114,371,320 (GRCm39) |
Y1816* |
probably null |
Het |
| Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,754,872 (GRCm39) |
I657V |
probably benign |
Het |
| Akap1 |
A |
G |
11: 88,736,020 (GRCm39) |
V214A |
probably benign |
Het |
| Ankrd42 |
T |
C |
7: 92,280,865 (GRCm39) |
R22G |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,148,647 (GRCm39) |
P1234S |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,273,652 (GRCm39) |
I441T |
probably damaging |
Het |
| Cenpu |
G |
A |
8: 47,031,344 (GRCm39) |
A242T |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,644,487 (GRCm39) |
V1267E |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,094,516 (GRCm39) |
T58A |
probably benign |
Het |
| Ddx6 |
T |
G |
9: 44,542,722 (GRCm39) |
C385G |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,543,305 (GRCm39) |
N2288K |
probably benign |
Het |
| Egfl8 |
A |
T |
17: 34,833,342 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
A |
T |
2: 165,139,287 (GRCm39) |
I420N |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,665,248 (GRCm39) |
F113L |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,525,409 (GRCm39) |
|
probably null |
Het |
| Fgfr2 |
A |
T |
7: 129,863,592 (GRCm39) |
|
probably null |
Het |
| Fkbpl |
A |
T |
17: 34,864,384 (GRCm39) |
R51* |
probably null |
Het |
| Fn3krp |
G |
A |
11: 121,312,406 (GRCm39) |
V40M |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,380,169 (GRCm39) |
|
probably null |
Het |
| Gm15446 |
A |
T |
5: 110,091,281 (GRCm39) |
Q511L |
probably benign |
Het |
| Gm7334 |
A |
G |
17: 51,006,289 (GRCm39) |
K192E |
probably damaging |
Het |
| H2-Q10 |
A |
T |
17: 35,784,204 (GRCm39) |
T282S |
possibly damaging |
Het |
| Hspa9 |
A |
G |
18: 35,073,963 (GRCm39) |
V482A |
possibly damaging |
Het |
| Ica1l |
A |
T |
1: 60,053,155 (GRCm39) |
S128T |
probably benign |
Het |
| Il7r |
A |
T |
15: 9,516,423 (GRCm39) |
I126K |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,516,074 (GRCm39) |
E11G |
probably benign |
Het |
| Klkb1 |
A |
C |
8: 45,725,446 (GRCm39) |
F498V |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,117,178 (GRCm39) |
E2491G |
probably null |
Het |
| Lhfpl2 |
T |
C |
13: 94,310,943 (GRCm39) |
V71A |
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,493,488 (GRCm39) |
I198T |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,885,432 (GRCm39) |
M431L |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,326,424 (GRCm39) |
T519A |
probably benign |
Het |
| Or10w1 |
C |
A |
19: 13,632,128 (GRCm39) |
L112I |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,129 (GRCm39) |
L112H |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,256,028 (GRCm39) |
F178L |
probably damaging |
Het |
| Or4a74 |
G |
T |
2: 89,440,108 (GRCm39) |
L113M |
probably damaging |
Het |
| Or4a74 |
A |
T |
2: 89,440,107 (GRCm39) |
L113Q |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,992,923 (GRCm39) |
Y123* |
probably null |
Het |
| Or7h8 |
G |
T |
9: 20,124,182 (GRCm39) |
C179F |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,844,980 (GRCm39) |
R624G |
probably damaging |
Het |
| Pex16 |
C |
T |
2: 92,211,401 (GRCm39) |
P325S |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,493,902 (GRCm39) |
M288T |
possibly damaging |
Het |
| Pla2g5 |
C |
T |
4: 138,527,967 (GRCm39) |
D100N |
probably benign |
Het |
| Prss43 |
T |
A |
9: 110,656,430 (GRCm39) |
M39K |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,284,450 (GRCm39) |
S105P |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,816 (GRCm39) |
S969T |
probably benign |
Het |
| Rad23b |
T |
A |
4: 55,383,575 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rpl10l |
A |
G |
12: 66,331,130 (GRCm39) |
M1T |
probably null |
Het |
| Sec16a |
A |
G |
2: 26,318,328 (GRCm39) |
S1588P |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,827,052 (GRCm39) |
H602L |
probably damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,236,263 (GRCm39) |
S497T |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,929,537 (GRCm39) |
Y365C |
probably benign |
Het |
| Trim5 |
T |
C |
7: 103,928,882 (GRCm39) |
N20D |
probably benign |
Het |
| Vmn1r201 |
G |
T |
13: 22,659,194 (GRCm39) |
W136L |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,821,987 (GRCm39) |
I222V |
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,449,644 (GRCm39) |
V198D |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,569 (GRCm39) |
D477G |
possibly damaging |
Het |
| Zfp202 |
C |
A |
9: 40,119,778 (GRCm39) |
H194N |
probably benign |
Het |
| Zfp212 |
C |
T |
6: 47,903,453 (GRCm39) |
R13W |
probably 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTCTATCGACTTAAAGCACGC -3'
(R):5'- CAAACTGCCGACTGACTGACTCTG -3'
Sequencing Primer
(F):5'- TATCGACTTAAAGCACGCATCAG -3'
(R):5'- GACTGACTGACTCTGCACTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation