Incidental Mutation 'R6211:Fbxl13'
| ID |
503445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6211 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21689019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 763
(R763Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000056045]
|
| AlphaFold |
Q8CDU4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051358
AA Change: R763Q
PolyPhen 2
Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: R763Q
| 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: ENSMUST00000056045
|
| SMART Domains |
Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146056
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
100% (54/54) |
| 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 |
|---|
| Acin1 |
A |
T |
14: 54,881,503 (GRCm39) |
W391R |
probably damaging |
Het |
| Arl6ip1 |
A |
T |
7: 117,726,473 (GRCm39) |
S18R |
probably benign |
Het |
| Armc3 |
G |
A |
2: 19,301,614 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
G |
T |
10: 41,506,141 (GRCm39) |
S883* |
probably null |
Het |
| Cd300lg |
A |
G |
11: 101,944,995 (GRCm39) |
M358V |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,246,600 (GRCm39) |
V949A |
possibly damaging |
Het |
| Cenpo |
C |
T |
12: 4,266,733 (GRCm39) |
S126N |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,243,503 (GRCm39) |
D1366E |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,078,248 (GRCm39) |
E169G |
possibly damaging |
Het |
| Clec1b |
A |
G |
6: 129,378,440 (GRCm39) |
T24A |
possibly damaging |
Het |
| Clhc1 |
A |
G |
11: 29,528,145 (GRCm39) |
I558V |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,415,826 (GRCm39) |
R1440S |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,708,727 (GRCm39) |
|
probably benign |
Het |
| Cxcr4 |
A |
G |
1: 128,517,187 (GRCm39) |
V158A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,795 (GRCm39) |
M3781T |
probably damaging |
Het |
| Dnai7 |
C |
T |
6: 145,146,217 (GRCm39) |
R95Q |
probably damaging |
Het |
| Elovl5 |
C |
A |
9: 77,888,784 (GRCm39) |
T217K |
probably damaging |
Het |
| Fbln7 |
G |
T |
2: 128,737,260 (GRCm39) |
M358I |
probably damaging |
Het |
| Gabrr3 |
C |
A |
16: 59,268,471 (GRCm39) |
N361K |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,938,429 (GRCm39) |
H1035Q |
possibly damaging |
Het |
| Gbp7 |
A |
G |
3: 142,251,754 (GRCm39) |
M534V |
probably benign |
Het |
| Hcar2 |
G |
A |
5: 124,003,017 (GRCm39) |
T162I |
probably benign |
Het |
| Hdc |
A |
T |
2: 126,435,897 (GRCm39) |
L658Q |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,955,602 (GRCm39) |
Y1306C |
probably damaging |
Het |
| Homer3 |
C |
T |
8: 70,738,174 (GRCm39) |
R49C |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 87,998,822 (GRCm39) |
N308D |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,198,320 (GRCm39) |
T555M |
probably damaging |
Het |
| Lrfn5 |
G |
T |
12: 61,886,256 (GRCm39) |
V15L |
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,952,458 (GRCm39) |
K493E |
possibly damaging |
Het |
| Lyzl6 |
A |
G |
11: 103,525,889 (GRCm39) |
I77T |
probably damaging |
Het |
| Mavs |
G |
T |
2: 131,082,311 (GRCm39) |
R65L |
probably damaging |
Het |
| Mdn1 |
T |
G |
4: 32,696,269 (GRCm39) |
D1217E |
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,647,599 (GRCm39) |
F175I |
possibly damaging |
Het |
| Or52h1 |
A |
T |
7: 103,828,954 (GRCm39) |
Y220* |
probably null |
Het |
| Or9i1 |
A |
G |
19: 13,839,938 (GRCm39) |
I260M |
probably benign |
Het |
| Otof |
C |
A |
5: 30,529,244 (GRCm39) |
V1762L |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,153,374 (GRCm39) |
L31P |
probably damaging |
Het |
| Pxk |
C |
A |
14: 8,163,952 (GRCm38) |
P515T |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,344,368 (GRCm39) |
D1759E |
probably benign |
Het |
| Rps6ka1 |
A |
T |
4: 133,596,617 (GRCm39) |
F33Y |
probably damaging |
Het |
| Rxfp2 |
G |
A |
5: 149,967,591 (GRCm39) |
|
probably null |
Het |
| Slc23a4 |
A |
T |
6: 34,933,896 (GRCm39) |
I202N |
probably damaging |
Het |
| Slc24a5 |
A |
T |
2: 124,930,171 (GRCm39) |
I491F |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,854,775 (GRCm39) |
K625N |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,547,030 (GRCm39) |
V51A |
probably damaging |
Het |
| Sox6 |
G |
T |
7: 115,400,697 (GRCm39) |
H48Q |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,587 (GRCm39) |
Y114* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Timm13 |
A |
C |
10: 80,736,314 (GRCm39) |
|
probably null |
Het |
| Tpsb2 |
G |
A |
17: 25,586,737 (GRCm39) |
A250T |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,760,492 (GRCm39) |
I131T |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,976,554 (GRCm39) |
|
probably null |
Het |
| Vmn2r35 |
T |
A |
7: 7,789,527 (GRCm39) |
I737F |
probably damaging |
Het |
| Wdr46 |
C |
A |
17: 34,163,459 (GRCm39) |
T339K |
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 |
|
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'- CTTGATAAGGTTACCTTTGCAGTC -3'
(R):5'- GTGAACTGTAGAAATCACTTTCGC -3'
Sequencing Primer
(F):5'- CATTTGCAAATGAAATAAAAAGGGC -3'
(R):5'- CGCATCTCACTAATGTTAAGCACTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation