Incidental Mutation 'R2426:Fbxl13'
ID |
250205 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl13
|
Ensembl Gene |
ENSMUSG00000048520 |
Gene Name |
F-box and leucine-rich repeat protein 13 |
Synonyms |
4921539K22Rik |
MMRRC Submission |
040388-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2426 (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 C
at 21727135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 620
(D620E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000115234]
|
AlphaFold |
Q8CDU4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051358
AA Change: D587E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052716 Gene: ENSMUSG00000048520 AA Change: D587E
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: D620E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110889 Gene: ENSMUSG00000048520 AA Change: D620E
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
G |
T |
7: 119,882,446 (GRCm39) |
V1203L |
probably benign |
Het |
Adamtsl1 |
G |
A |
4: 86,075,025 (GRCm39) |
V131I |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
Agbl1 |
T |
C |
7: 76,071,650 (GRCm39) |
V324A |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,980,215 (GRCm39) |
I500F |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,266 (GRCm39) |
D851G |
probably damaging |
Het |
Amot |
T |
C |
X: 144,259,287 (GRCm39) |
K460E |
probably damaging |
Het |
Arhgef3 |
G |
T |
14: 27,106,138 (GRCm39) |
E161* |
probably null |
Het |
Atg9b |
A |
T |
5: 24,591,992 (GRCm39) |
I669N |
probably damaging |
Het |
Ccdc83 |
A |
G |
7: 89,877,639 (GRCm39) |
Y268H |
probably damaging |
Het |
Cep170 |
A |
G |
1: 176,602,201 (GRCm39) |
S302P |
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,428,213 (GRCm39) |
M303K |
probably damaging |
Het |
Cyp4v3 |
T |
A |
8: 45,770,813 (GRCm39) |
Y231F |
probably benign |
Het |
Defa39 |
T |
G |
8: 22,192,653 (GRCm39) |
K114N |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,791,740 (GRCm39) |
L1411Q |
possibly damaging |
Het |
Dsg1a |
T |
A |
18: 20,469,861 (GRCm39) |
I629N |
probably damaging |
Het |
Dst |
A |
T |
1: 34,231,893 (GRCm39) |
H2837L |
probably benign |
Het |
Fam114a2 |
G |
A |
11: 57,383,906 (GRCm39) |
P343L |
probably benign |
Het |
Fbrs |
A |
G |
7: 127,086,511 (GRCm39) |
|
probably null |
Het |
Frmd4a |
T |
A |
2: 4,534,673 (GRCm39) |
S164T |
probably damaging |
Het |
Gdi2 |
T |
G |
13: 3,612,034 (GRCm39) |
S330A |
probably benign |
Het |
Gm5878 |
A |
T |
6: 85,095,613 (GRCm39) |
M70K |
probably benign |
Het |
H2-Q6 |
G |
T |
17: 35,643,913 (GRCm39) |
A21S |
probably benign |
Het |
Hfm1 |
A |
T |
5: 106,995,519 (GRCm39) |
|
probably null |
Het |
Hnmt |
C |
T |
2: 23,909,167 (GRCm39) |
C82Y |
probably benign |
Het |
Il1rl1 |
C |
A |
1: 40,485,779 (GRCm39) |
A310D |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,757,569 (GRCm39) |
|
probably null |
Het |
Kcne4 |
C |
A |
1: 78,795,688 (GRCm39) |
A112E |
possibly damaging |
Het |
Krt32 |
T |
C |
11: 99,977,192 (GRCm39) |
K236R |
possibly damaging |
Het |
Maml2 |
T |
C |
9: 13,617,794 (GRCm39) |
L380P |
probably damaging |
Het |
Meis1 |
A |
T |
11: 18,938,356 (GRCm39) |
D218E |
possibly damaging |
Het |
Mon1b |
G |
A |
8: 114,365,752 (GRCm39) |
G360D |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,169,216 (GRCm39) |
S383P |
probably damaging |
Het |
Neb |
A |
G |
2: 52,059,065 (GRCm39) |
|
probably null |
Het |
Nlgn2 |
A |
T |
11: 69,717,912 (GRCm39) |
I431N |
probably damaging |
Het |
Nr2e1 |
A |
G |
10: 42,439,481 (GRCm39) |
L134P |
probably damaging |
Het |
Opcml |
G |
A |
9: 28,814,663 (GRCm39) |
|
probably null |
Het |
Or2t29 |
A |
T |
11: 58,433,920 (GRCm39) |
Y127* |
probably null |
Het |
Or6c207 |
T |
C |
10: 129,105,135 (GRCm39) |
Q19R |
probably benign |
Het |
Or7c19 |
T |
C |
8: 85,957,693 (GRCm39) |
S190P |
probably damaging |
Het |
Pate2 |
A |
T |
9: 35,581,776 (GRCm39) |
|
probably null |
Het |
Pgr |
G |
A |
9: 8,900,718 (GRCm39) |
V84M |
probably damaging |
Het |
Pigu |
A |
T |
2: 155,141,002 (GRCm39) |
V296D |
probably damaging |
Het |
Plcb2 |
G |
A |
2: 118,546,130 (GRCm39) |
T555M |
probably damaging |
Het |
Pld5 |
T |
G |
1: 175,791,542 (GRCm39) |
D426A |
probably benign |
Het |
Prdm2 |
G |
T |
4: 142,838,320 (GRCm39) |
C1679* |
probably null |
Het |
Psme2b |
A |
T |
11: 48,836,890 (GRCm39) |
V19D |
probably benign |
Het |
Ptpn9 |
A |
T |
9: 56,934,712 (GRCm39) |
N159Y |
possibly damaging |
Het |
Sanbr |
T |
A |
11: 23,526,801 (GRCm39) |
R190W |
probably damaging |
Het |
Sdc3 |
A |
T |
4: 130,546,114 (GRCm39) |
T64S |
unknown |
Het |
Serping1 |
T |
G |
2: 84,600,563 (GRCm39) |
S260R |
probably damaging |
Het |
Slc20a1 |
T |
C |
2: 129,050,150 (GRCm39) |
F436S |
probably benign |
Het |
Sntb1 |
A |
T |
15: 55,769,575 (GRCm39) |
I138N |
probably damaging |
Het |
Sorcs3 |
A |
T |
19: 48,711,364 (GRCm39) |
Y643F |
probably damaging |
Het |
Spink1 |
G |
T |
18: 43,868,287 (GRCm39) |
S23* |
probably null |
Het |
Stag1 |
T |
C |
9: 100,727,169 (GRCm39) |
|
probably null |
Het |
Tnfaip8l1 |
G |
A |
17: 56,479,030 (GRCm39) |
V107I |
probably benign |
Het |
Tnik |
A |
G |
3: 28,700,830 (GRCm39) |
S907G |
probably damaging |
Het |
Ttf1 |
T |
A |
2: 28,957,197 (GRCm39) |
M489K |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp54 |
G |
A |
14: 20,615,008 (GRCm39) |
A811V |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,344,815 (GRCm39) |
N2352S |
probably benign |
Het |
Zan |
T |
C |
5: 137,387,254 (GRCm39) |
Y4933C |
unknown |
Het |
Zbtb8a |
A |
G |
4: 129,254,012 (GRCm39) |
S161P |
probably benign |
Het |
Zkscan5 |
A |
T |
5: 145,157,750 (GRCm39) |
I751L |
probably benign |
Het |
Zscan4d |
A |
G |
7: 10,899,022 (GRCm39) |
F85S |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,806,091 (GRCm39) |
M2647V |
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 |
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'- TCCAAAGTACTGGAGCGTG -3'
(R):5'- GCTTTTCATGAAGTCGTCAGTG -3'
Sequencing Primer
(F):5'- ACAGCGTTTATCACTATTCTGGGGAC -3'
(R):5'- CATGAAGTCGTCAGTGGTGTCATC -3'
|
Posted On |
2014-11-12 |