Incidental Mutation 'R6455:Fbxl13'
| ID |
519528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| MMRRC Submission |
044591-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21761812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 341
(S341F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035651]
[ENSMUST00000051358]
[ENSMUST00000115234]
|
| AlphaFold |
Q8CDU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035651
|
| SMART Domains |
Protein: ENSMUSP00000038569
Gene: ENSMUSG00000039883
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
Blast:LRR
|
83 |
105 |
8e-6 |
BLAST |
|
LRR
|
106 |
129 |
9.96e-1 |
SMART |
|
LRR
|
130 |
153 |
1.07e0 |
SMART |
|
LRRCT
|
165 |
215 |
8.98e-4 |
SMART |
|
LRR
|
270 |
292 |
8.73e1 |
SMART |
|
LRR
|
293 |
316 |
3.52e-1 |
SMART |
|
LRR
|
317 |
340 |
7.55e-1 |
SMART |
|
LRRCT
|
352 |
403 |
8.95e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051358
AA Change: S341F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: S341F
| 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: S341F
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
AA Change: S341F
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199277
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
96% (70/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,042,376 (GRCm39) |
R1899G |
probably damaging |
Het |
| Abca6 |
C |
T |
11: 110,132,407 (GRCm39) |
G296D |
probably damaging |
Het |
| Abcb5 |
A |
T |
12: 118,854,284 (GRCm39) |
|
probably null |
Het |
| Adam28 |
T |
G |
14: 68,870,657 (GRCm39) |
T339P |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,189 (GRCm39) |
H345L |
probably damaging |
Het |
| Adcy10 |
C |
G |
1: 165,345,943 (GRCm39) |
Q331E |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,160,196 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,673,639 (GRCm39) |
I3078N |
probably damaging |
Het |
| Amtn |
A |
T |
5: 88,528,139 (GRCm39) |
N71Y |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,438,753 (GRCm39) |
Y370F |
probably benign |
Het |
| Arid4a |
T |
C |
12: 71,121,862 (GRCm39) |
S748P |
probably benign |
Het |
| Atp2b1 |
C |
A |
10: 98,852,842 (GRCm39) |
Q108K |
possibly damaging |
Het |
| Bcdin3d |
T |
C |
15: 99,368,830 (GRCm39) |
D123G |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,184,410 (GRCm39) |
S24P |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,896,754 (GRCm39) |
S1550R |
possibly damaging |
Het |
| Ccdc7a |
C |
T |
8: 129,559,091 (GRCm39) |
V1174M |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,578 (GRCm39) |
I155F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,863 (GRCm39) |
I611T |
possibly damaging |
Het |
| Chrna1 |
C |
T |
2: 73,397,180 (GRCm39) |
D370N |
possibly damaging |
Het |
| Dlg2 |
C |
A |
7: 92,093,716 (GRCm39) |
|
probably null |
Het |
| Dll4 |
A |
T |
2: 119,164,276 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,058,108 (GRCm39) |
S137P |
probably benign |
Het |
| Epn2 |
A |
T |
11: 61,424,467 (GRCm39) |
M250K |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,283 (GRCm39) |
Q3149L |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,597 (GRCm39) |
C191S |
probably damaging |
Het |
| Gm5150 |
C |
T |
3: 16,044,815 (GRCm39) |
G137S |
probably damaging |
Het |
| Gpr75 |
C |
T |
11: 30,841,529 (GRCm39) |
R145W |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
| Ina |
G |
A |
19: 47,012,000 (GRCm39) |
E473K |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,402,700 (GRCm39) |
S22P |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,394,933 (GRCm39) |
M32K |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,061,795 (GRCm39) |
S1383T |
probably benign |
Het |
| Lclat1 |
T |
A |
17: 73,468,828 (GRCm39) |
S3T |
probably damaging |
Het |
| Llgl1 |
G |
A |
11: 60,600,486 (GRCm39) |
V612M |
probably damaging |
Het |
| Mios |
A |
G |
6: 8,231,239 (GRCm39) |
R708G |
probably benign |
Het |
| Mphosph8 |
T |
C |
14: 56,925,943 (GRCm39) |
L636P |
probably damaging |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,893 (GRCm39) |
N254Y |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Myog |
G |
A |
1: 134,218,226 (GRCm39) |
D145N |
probably benign |
Het |
| Nat10 |
T |
A |
2: 103,570,231 (GRCm39) |
I371F |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,057,656 (GRCm39) |
Y229* |
probably null |
Het |
| Nlrp6 |
T |
A |
7: 140,507,422 (GRCm39) |
I896K |
possibly damaging |
Het |
| Or11g7 |
A |
T |
14: 50,691,042 (GRCm39) |
I178L |
possibly damaging |
Het |
| Or52p2 |
G |
A |
7: 102,237,878 (GRCm39) |
A24V |
probably benign |
Het |
| Or5an11 |
T |
C |
19: 12,246,070 (GRCm39) |
S159P |
probably damaging |
Het |
| Pate5 |
T |
A |
9: 35,755,351 (GRCm39) |
K3* |
probably null |
Het |
| Pcdhgc5 |
A |
C |
18: 37,954,301 (GRCm39) |
E525A |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,741,930 (GRCm39) |
Y150F |
probably benign |
Het |
| Pkd2 |
C |
A |
5: 104,607,790 (GRCm39) |
D96E |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,815,138 (GRCm39) |
D1022G |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,689,150 (GRCm39) |
M981T |
probably benign |
Het |
| Rc3h2 |
C |
A |
2: 37,299,482 (GRCm39) |
A183S |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,937,856 (GRCm39) |
I270N |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,378,646 (GRCm39) |
R524W |
probably damaging |
Het |
| Slc25a10 |
T |
C |
11: 120,386,031 (GRCm39) |
V124A |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,958,107 (GRCm39) |
I109F |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,202,820 (GRCm39) |
R1936W |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,514 (GRCm39) |
Y183N |
probably benign |
Het |
| Svil |
A |
G |
18: 5,056,629 (GRCm39) |
K588E |
possibly damaging |
Het |
| Tas2r122 |
C |
T |
6: 132,688,626 (GRCm39) |
W89* |
probably null |
Het |
| Tbxas1 |
T |
A |
6: 38,929,079 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,397,360 (GRCm39) |
I111N |
probably damaging |
Het |
| Tlr9 |
T |
A |
9: 106,101,198 (GRCm39) |
L163H |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,942,289 (GRCm39) |
V806M |
probably damaging |
Het |
| Traf5 |
G |
A |
1: 191,731,887 (GRCm39) |
A318V |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,219,482 (GRCm39) |
M1K |
probably null |
Het |
| Utp25 |
G |
T |
1: 192,810,684 (GRCm39) |
D106E |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,000 (GRCm39) |
R73S |
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,331 (GRCm39) |
Y53C |
probably benign |
Het |
| Vmn2r34 |
T |
A |
7: 7,686,582 (GRCm39) |
N372Y |
probably damaging |
Het |
| Wbp2 |
A |
T |
11: 115,970,579 (GRCm39) |
S229R |
probably damaging |
Het |
| Wdr18 |
C |
T |
10: 79,801,115 (GRCm39) |
T176I |
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 |
|
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 |
|
|
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'- CAAGATGAACGATAGCATTGTGC -3'
(R):5'- GCCAAAGACATCATTTGCCTGAG -3'
Sequencing Primer
(F):5'- GCATTGTGCAGGGGGTG -3'
(R):5'- TGAGCAGAGAAACCCACATACTTAGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation