Incidental Mutation 'R0040:Fbxl13'
| ID |
15657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl13
|
| Ensembl Gene |
ENSMUSG00000048520 |
| Gene Name |
F-box and leucine-rich repeat protein 13 |
| Synonyms |
4921539K22Rik |
| MMRRC Submission |
038334-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0040 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21691371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 671
(T671A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000056045]
|
| AlphaFold |
Q8CDU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051358
AA Change: T671A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: T671A
| 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: ENSMUST00000137788
|
| Meta Mutation Damage Score |
0.2726 |
| Coding Region Coverage |
- 1x: 84.2%
- 3x: 77.3%
- 10x: 61.4%
- 20x: 43.8%
|
| Validation Efficiency |
96% (74/77) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,622,165 (GRCm39) |
L356R |
possibly damaging |
Het |
| Antxr2 |
G |
A |
5: 98,086,284 (GRCm39) |
T441I |
possibly damaging |
Het |
| Apcs |
A |
G |
1: 172,722,023 (GRCm39) |
Y108H |
probably benign |
Het |
| Arpp21 |
T |
C |
9: 111,976,477 (GRCm39) |
|
probably benign |
Het |
| Atcay |
C |
T |
10: 81,046,353 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,159,196 (GRCm39) |
D141G |
probably damaging |
Het |
| Cacng5 |
A |
T |
11: 107,775,336 (GRCm39) |
L11Q |
probably damaging |
Het |
| Ccdc73 |
T |
C |
2: 104,822,429 (GRCm39) |
S793P |
probably damaging |
Het |
| Ceacam10 |
A |
G |
7: 24,477,689 (GRCm39) |
Y68C |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,497,212 (GRCm39) |
P3062S |
probably damaging |
Het |
| Dctn4 |
A |
G |
18: 60,677,114 (GRCm39) |
N145D |
possibly damaging |
Het |
| Dusp12 |
A |
G |
1: 170,708,226 (GRCm39) |
Y164H |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,610,266 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,491,080 (GRCm39) |
K819* |
probably null |
Het |
| Gucy2g |
T |
A |
19: 55,205,734 (GRCm39) |
T709S |
possibly damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,152,436 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,747,570 (GRCm39) |
S317P |
probably damaging |
Het |
| Ifi30 |
T |
C |
8: 71,216,421 (GRCm39) |
|
probably null |
Het |
| Ifna16 |
G |
A |
4: 88,594,867 (GRCm39) |
A76V |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,246,638 (GRCm39) |
E1127K |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,667,457 (GRCm39) |
V330A |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,192,401 (GRCm39) |
Y131C |
probably damaging |
Het |
| Krt71 |
T |
A |
15: 101,646,868 (GRCm39) |
H280L |
possibly damaging |
Het |
| Lox |
A |
T |
18: 52,653,898 (GRCm39) |
H399Q |
possibly damaging |
Het |
| Mapt |
A |
G |
11: 104,196,224 (GRCm39) |
M446V |
probably damaging |
Het |
| Mpp7 |
A |
T |
18: 7,403,180 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,461,708 (GRCm39) |
V1447A |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,821,148 (GRCm39) |
I451N |
probably damaging |
Het |
| Nubp1 |
A |
G |
16: 10,238,981 (GRCm39) |
T199A |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,496,320 (GRCm39) |
H317R |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,676,979 (GRCm39) |
Y1170F |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,661,665 (GRCm39) |
D536G |
probably damaging |
Het |
| Pira6 |
A |
G |
7: 4,284,482 (GRCm39) |
|
noncoding transcript |
Het |
| Pkhd1l1 |
T |
A |
15: 44,437,021 (GRCm39) |
Y3460N |
probably damaging |
Het |
| Plxna2 |
G |
T |
1: 194,326,204 (GRCm39) |
R46L |
probably benign |
Het |
| Rnf168 |
T |
A |
16: 32,096,991 (GRCm39) |
|
probably null |
Het |
| Rpl14 |
C |
G |
9: 120,401,167 (GRCm39) |
F3L |
possibly damaging |
Het |
| Scara5 |
C |
T |
14: 66,000,166 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,782,286 (GRCm39) |
Y143N |
possibly damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,687,727 (GRCm39) |
I288N |
probably damaging |
Het |
| Synpr |
G |
A |
14: 13,563,024 (GRCm38) |
A86T |
probably damaging |
Het |
| Ttc38 |
C |
A |
15: 85,725,690 (GRCm39) |
F184L |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,638 (GRCm39) |
I303M |
probably damaging |
Het |
| Zc3h12d |
G |
A |
10: 7,743,678 (GRCm39) |
A483T |
probably benign |
Het |
| Zfp106 |
C |
A |
2: 120,362,094 (GRCm39) |
K1008N |
probably damaging |
Het |
| Zfp68 |
G |
A |
5: 138,606,041 (GRCm39) |
T94I |
probably benign |
Het |
| Zfp867 |
C |
T |
11: 59,354,691 (GRCm39) |
A213T |
possibly damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,579,090 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2012-12-21 |
Incidental Mutation