Incidental Mutation 'IGL02178:Fbxl13'
| ID |
283200 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02178
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21825718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 128
(I128T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000115234]
|
| AlphaFold |
Q8CDU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051358
AA Change: I128T
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: I128T
| 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 |
possibly damaging
Transcript: ENSMUST00000115234
AA Change: I128T
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
AA Change: I128T
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,418 (GRCm39) |
T516S |
possibly damaging |
Het |
| 6820408C15Rik |
T |
C |
2: 152,269,921 (GRCm39) |
|
probably benign |
Het |
| Ak5 |
T |
C |
3: 152,232,422 (GRCm39) |
D331G |
probably benign |
Het |
| Ar |
A |
G |
X: 97,349,044 (GRCm39) |
D675G |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,343,179 (GRCm39) |
D276G |
probably benign |
Het |
| Arhgef3 |
C |
T |
14: 26,987,486 (GRCm39) |
R40* |
probably null |
Het |
| Atp1b4 |
G |
T |
X: 37,421,695 (GRCm39) |
R293L |
possibly damaging |
Het |
| Borcs8 |
T |
C |
8: 70,617,897 (GRCm39) |
L85P |
probably damaging |
Het |
| Carmil1 |
T |
G |
13: 24,278,386 (GRCm39) |
K194N |
probably damaging |
Het |
| Catsper4 |
T |
A |
4: 133,954,637 (GRCm39) |
K4N |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,206,921 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
A |
G |
3: 100,901,082 (GRCm39) |
S997P |
probably damaging |
Het |
| Cdkl5 |
G |
A |
X: 159,599,889 (GRCm39) |
T792I |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,743,321 (GRCm39) |
Y185C |
probably damaging |
Het |
| Clcn5 |
A |
G |
X: 7,052,563 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Col6a1 |
A |
T |
10: 76,546,909 (GRCm39) |
I771N |
unknown |
Het |
| Crispld1 |
C |
T |
1: 17,832,327 (GRCm39) |
|
probably benign |
Het |
| Gga1 |
T |
A |
15: 78,776,247 (GRCm39) |
M430K |
probably benign |
Het |
| Has2 |
A |
G |
15: 56,545,456 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ivd |
A |
G |
2: 118,701,915 (GRCm39) |
I116V |
probably benign |
Het |
| Krt75 |
T |
C |
15: 101,481,226 (GRCm39) |
N183D |
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,790,611 (GRCm39) |
I314N |
probably damaging |
Het |
| Map6d1 |
T |
G |
16: 20,055,448 (GRCm39) |
E129D |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,296,146 (GRCm39) |
V145A |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,359,184 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,461,802 (GRCm39) |
F1416L |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,753,838 (GRCm39) |
I182V |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,907 (GRCm39) |
I256N |
possibly damaging |
Het |
| Or7a35 |
T |
C |
10: 78,853,554 (GRCm39) |
Y133H |
possibly damaging |
Het |
| Phc3 |
T |
C |
3: 30,984,012 (GRCm39) |
T668A |
possibly damaging |
Het |
| Pheta2 |
T |
A |
15: 82,227,527 (GRCm39) |
D15E |
possibly damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
| Prkcq |
A |
C |
2: 11,281,851 (GRCm39) |
Y460S |
possibly damaging |
Het |
| Prmt8 |
T |
A |
6: 127,674,770 (GRCm39) |
E286V |
probably benign |
Het |
| Ptprb |
A |
T |
10: 116,158,437 (GRCm39) |
M503L |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,522,180 (GRCm39) |
D590E |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,604,033 (GRCm39) |
S196R |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,656,144 (GRCm39) |
Y1951H |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,538,258 (GRCm39) |
|
probably null |
Het |
| Sde2 |
T |
G |
1: 180,678,796 (GRCm39) |
L20R |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,208,414 (GRCm39) |
C81* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,332,857 (GRCm39) |
E177G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,927,783 (GRCm39) |
V667D |
probably damaging |
Het |
| Tas2r115 |
T |
C |
6: 132,714,271 (GRCm39) |
T227A |
probably benign |
Het |
| Tmed9 |
A |
G |
13: 55,741,108 (GRCm39) |
H41R |
possibly damaging |
Het |
| Vmn1r35 |
T |
G |
6: 66,656,086 (GRCm39) |
S28R |
probably damaging |
Het |
| Vmn2r110 |
A |
C |
17: 20,804,706 (GRCm39) |
|
probably null |
Het |
| Vstm2l |
T |
C |
2: 157,777,337 (GRCm39) |
Y72H |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zbtb4 |
A |
T |
11: 69,667,255 (GRCm39) |
R187* |
probably null |
Het |
| Zfp598 |
A |
G |
17: 24,896,517 (GRCm39) |
D198G |
probably damaging |
Het |
| Zp2 |
G |
T |
7: 119,732,973 (GRCm39) |
A629E |
possibly 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation