Incidental Mutation 'R8406:Fbxl13'
| ID |
652404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| MMRRC Submission |
067765-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8406 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21728652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 479
(I479N)
|
| 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: I479N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: I479N
| 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: I512N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
AA Change: I512N
| 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: 98.7%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,977,343 (GRCm39) |
F139L |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,343,082 (GRCm39) |
D288E |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,068,415 (GRCm39) |
E327G |
|
Het |
| Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Arl3 |
A |
T |
19: 46,530,823 (GRCm39) |
S157T |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,240,365 (GRCm39) |
I41F |
probably damaging |
Het |
| Atg9a |
A |
C |
1: 75,167,028 (GRCm39) |
Y8D |
probably damaging |
Het |
| Atp10b |
T |
G |
11: 43,093,984 (GRCm39) |
H509Q |
probably benign |
Het |
| Cabyr |
C |
A |
18: 12,883,804 (GRCm39) |
T97K |
probably benign |
Het |
| Ccdc91 |
T |
C |
6: 147,438,920 (GRCm39) |
F174S |
possibly damaging |
Het |
| Cep350 |
A |
T |
1: 155,798,164 (GRCm39) |
H1207Q |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,439,136 (GRCm39) |
N40K |
probably damaging |
Het |
| Col4a4 |
G |
A |
1: 82,501,611 (GRCm39) |
P381S |
unknown |
Het |
| Cpne5 |
A |
T |
17: 29,428,455 (GRCm39) |
F116Y |
probably benign |
Het |
| Csf2rb2 |
T |
C |
15: 78,171,216 (GRCm39) |
T457A |
probably benign |
Het |
| Cyb5d2 |
T |
C |
11: 72,679,959 (GRCm39) |
E112G |
probably benign |
Het |
| Cyp2b13 |
T |
C |
7: 25,781,223 (GRCm39) |
F212L |
probably benign |
Het |
| Dlx6 |
T |
G |
6: 6,863,779 (GRCm39) |
S134A |
probably benign |
Het |
| Egln1 |
A |
G |
8: 125,638,489 (GRCm39) |
Y380H |
probably benign |
Het |
| Fhip1a |
G |
T |
3: 85,580,027 (GRCm39) |
P726Q |
probably benign |
Het |
| Fis1 |
A |
G |
5: 136,991,865 (GRCm39) |
K20E |
probably benign |
Het |
| Foxk1 |
G |
T |
5: 142,387,528 (GRCm39) |
V84L |
unknown |
Het |
| Gdf5 |
C |
A |
2: 155,784,272 (GRCm39) |
G227W |
probably damaging |
Het |
| Ghrh |
T |
A |
2: 157,175,656 (GRCm39) |
T13S |
probably benign |
Het |
| Gnb2 |
A |
G |
5: 137,526,865 (GRCm39) |
L308P |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,148,863 (GRCm39) |
V574D |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,336,543 (GRCm39) |
I5107F |
possibly damaging |
Het |
| Kl |
A |
T |
5: 150,906,229 (GRCm39) |
Y533F |
probably benign |
Het |
| Man2b1 |
G |
T |
8: 85,822,907 (GRCm39) |
R816L |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,182,823 (GRCm39) |
Y821H |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,092,866 (GRCm39) |
C2076S |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nectin2 |
A |
T |
7: 19,472,275 (GRCm39) |
V38E |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,044 (GRCm39) |
|
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,921,770 (GRCm39) |
Y536C |
possibly damaging |
Het |
| Pcdh18 |
T |
G |
3: 49,710,998 (GRCm39) |
I106L |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,606,428 (GRCm39) |
K2149E |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,803,681 (GRCm39) |
C588S |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,529,316 (GRCm39) |
M812T |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,051,153 (GRCm39) |
T178A |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,359,294 (GRCm39) |
A494V |
unknown |
Het |
| Ros1 |
G |
C |
10: 51,977,941 (GRCm39) |
T1456S |
possibly damaging |
Het |
| Rubcnl |
T |
G |
14: 75,289,425 (GRCm39) |
F644L |
probably damaging |
Het |
| Saraf |
C |
T |
8: 34,632,602 (GRCm39) |
P227L |
probably benign |
Het |
| Sh3glb1 |
T |
G |
3: 144,397,198 (GRCm39) |
E383D |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,407 (GRCm39) |
V508A |
probably damaging |
Het |
| Sirt6 |
A |
T |
10: 81,458,328 (GRCm39) |
H308Q |
probably benign |
Het |
| Slc29a1 |
T |
A |
17: 45,900,706 (GRCm39) |
I119F |
probably damaging |
Het |
| Smtnl1 |
C |
T |
2: 84,648,742 (GRCm39) |
E171K |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,923,923 (GRCm39) |
E799D |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,137,658 (GRCm39) |
W894R |
probably damaging |
Het |
| Tiam2 |
A |
C |
17: 3,558,065 (GRCm39) |
I1230L |
possibly damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,019,265 (GRCm39) |
L190P |
probably damaging |
Het |
| Trim35 |
C |
T |
14: 66,534,724 (GRCm39) |
T69M |
possibly damaging |
Het |
| Ttll7 |
T |
C |
3: 146,645,779 (GRCm39) |
Y546H |
probably benign |
Het |
| Ubash3b |
C |
T |
9: 40,940,971 (GRCm39) |
G389R |
probably damaging |
Het |
| Vma21-ps |
C |
T |
4: 52,497,034 (GRCm39) |
V71I |
probably damaging |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,414 (GRCm39) |
H24L |
possibly damaging |
Het |
| Vps37c |
T |
A |
19: 10,687,719 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ythdf2 |
A |
G |
4: 131,931,946 (GRCm39) |
W405R |
probably damaging |
Het |
| Zfp775 |
T |
C |
6: 48,597,637 (GRCm39) |
C504R |
probably damaging |
Het |
| Zfp82 |
A |
G |
7: 29,761,652 (GRCm39) |
|
probably null |
Het |
| Zpr1 |
T |
A |
9: 46,185,400 (GRCm39) |
I127N |
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 |
|
|
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 |
|
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'- TTACCTGCGATTCGTCTAGGC -3'
(R):5'- ACATCTCTGACTCTGCTTTCAAAG -3'
Sequencing Primer
(F):5'- GATTCGTCTAGGCTCCTCCCAG -3'
(R):5'- TTTCCTCCTGCGACCTCAAAAAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation