Incidental Mutation 'R7152:Fbxl13'
ID |
554187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl13
|
Ensembl Gene |
ENSMUSG00000048520 |
Gene Name |
F-box and leucine-rich repeat protein 13 |
Synonyms |
4921539K22Rik |
MMRRC Submission |
045254-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7152 (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 A
at 21787065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 291
(I291F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052716
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000115234]
|
AlphaFold |
Q8CDU4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051358
AA Change: I291F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000052716 Gene: ENSMUSG00000048520 AA Change: I291F
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: I291F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110889 Gene: ENSMUSG00000048520 AA Change: I291F
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: 98.6%
|
Validation Efficiency |
100% (53/53) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btnl10 |
A |
G |
11: 58,813,223 (GRCm39) |
N284S |
probably benign |
Het |
Casz1 |
C |
G |
4: 148,985,748 (GRCm39) |
|
probably benign |
Het |
Cdkn2c |
A |
T |
4: 109,522,235 (GRCm39) |
F37I |
probably damaging |
Het |
Cdyl2 |
T |
C |
8: 117,351,066 (GRCm39) |
K22E |
probably damaging |
Het |
Cers1 |
T |
C |
8: 70,770,901 (GRCm39) |
W104R |
probably damaging |
Het |
Cgrrf1 |
T |
A |
14: 47,090,934 (GRCm39) |
Y223* |
probably null |
Het |
Cited2 |
C |
A |
10: 17,600,134 (GRCm39) |
N147K |
probably benign |
Het |
Clip2 |
A |
T |
5: 134,525,095 (GRCm39) |
L904Q |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,802,937 (GRCm39) |
V79A |
possibly damaging |
Het |
Cntnap1 |
C |
T |
11: 101,068,152 (GRCm39) |
R55W |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,455,384 (GRCm39) |
F477L |
|
Het |
Ctnna2 |
T |
A |
6: 76,957,807 (GRCm39) |
T481S |
possibly damaging |
Het |
Ddx17 |
T |
C |
15: 79,414,464 (GRCm39) |
T570A |
possibly damaging |
Het |
Epha7 |
A |
G |
4: 28,935,826 (GRCm39) |
K483E |
possibly damaging |
Het |
Eps8l2 |
A |
T |
7: 140,935,678 (GRCm39) |
I150F |
possibly damaging |
Het |
Esyt1 |
A |
G |
10: 128,351,629 (GRCm39) |
S827P |
possibly damaging |
Het |
Foxd3 |
A |
C |
4: 99,545,562 (GRCm39) |
H234P |
probably benign |
Het |
Ggta1 |
T |
A |
2: 35,292,711 (GRCm39) |
M199L |
probably benign |
Het |
H3c13 |
A |
G |
3: 96,176,254 (GRCm39) |
D82G |
probably benign |
Het |
Ighv5-15 |
T |
C |
12: 113,790,317 (GRCm39) |
E101G |
probably benign |
Het |
Igkv8-18 |
T |
C |
6: 70,333,205 (GRCm39) |
L49P |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,371,368 (GRCm39) |
|
probably null |
Het |
Klhl36 |
C |
T |
8: 120,596,953 (GRCm39) |
T218M |
probably benign |
Het |
Ltn1 |
A |
G |
16: 87,224,529 (GRCm39) |
F65S |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Ndst3 |
T |
A |
3: 123,346,305 (GRCm39) |
I642F |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,153,557 (GRCm39) |
D2456G |
probably damaging |
Het |
Nphp1 |
A |
G |
2: 127,595,899 (GRCm39) |
M522T |
probably benign |
Het |
Or51k1 |
T |
A |
7: 103,661,226 (GRCm39) |
M228L |
probably benign |
Het |
Or8k33 |
C |
T |
2: 86,383,673 (GRCm39) |
S265N |
probably benign |
Het |
Pam |
T |
A |
1: 97,813,465 (GRCm39) |
M322L |
probably damaging |
Het |
Pcdhgb1 |
C |
A |
18: 37,814,854 (GRCm39) |
H448Q |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,247,194 (GRCm39) |
|
probably null |
Het |
Pgm3 |
A |
T |
9: 86,449,593 (GRCm39) |
D142E |
probably benign |
Het |
Pomgnt2 |
C |
T |
9: 121,812,589 (GRCm39) |
G64D |
probably damaging |
Het |
Sds |
A |
T |
5: 120,619,716 (GRCm39) |
|
probably null |
Het |
Sirpb1b |
G |
T |
3: 15,607,230 (GRCm39) |
Q351K |
probably benign |
Het |
Slc2a12 |
T |
A |
10: 22,541,453 (GRCm39) |
M436K |
probably benign |
Het |
Slc9a5 |
G |
A |
8: 106,095,025 (GRCm39) |
G872D |
probably benign |
Het |
Stxbp2 |
T |
G |
8: 3,682,583 (GRCm39) |
S57R |
probably benign |
Het |
Sult2a6 |
T |
A |
7: 13,956,445 (GRCm39) |
D272V |
probably benign |
Het |
Supt5 |
A |
G |
7: 28,023,325 (GRCm39) |
M318T |
probably benign |
Het |
Tdpoz3 |
T |
C |
3: 93,733,772 (GRCm39) |
V149A |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,869,871 (GRCm39) |
S124T |
possibly damaging |
Het |
Tssc4 |
T |
A |
7: 142,624,139 (GRCm39) |
V149D |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
Vmn1r37 |
T |
C |
6: 66,708,883 (GRCm39) |
Y170H |
probably benign |
Het |
Vnn3 |
T |
A |
10: 23,727,513 (GRCm39) |
V11E |
possibly damaging |
Het |
Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,674,839 (GRCm39) |
V1963A |
possibly damaging |
Het |
Zfp324 |
C |
A |
7: 12,700,198 (GRCm39) |
A19E |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,325,888 (GRCm39) |
S784G |
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 |
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'- GTGGCAATGCTGGTGTTTCC -3'
(R):5'- GCATATCAGTGCACTCTGCC -3'
Sequencing Primer
(F):5'- TACAGGGATTTGTGACCACTAGCC -3'
(R):5'- ATCAGTGCACTCTGCCATTATTAG -3'
|
Posted On |
2019-05-15 |