Incidental Mutation 'R4425:Fbxl4'
ID |
328096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl4
|
Ensembl Gene |
ENSMUSG00000040410 |
Gene Name |
F-box and leucine-rich repeat protein 4 |
Synonyms |
FBL5, FBL4 |
MMRRC Submission |
041144-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.464)
|
Stock # |
R4425 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
22357543-22434091 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 22422699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042219
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039234]
[ENSMUST00000184455]
[ENSMUST00000184582]
[ENSMUST00000185029]
|
AlphaFold |
Q8BH70 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039234
|
SMART Domains |
Protein: ENSMUSP00000042219 Gene: ENSMUSG00000040410
Domain | Start | End | E-Value | Type |
FBOX
|
283 |
325 |
2.11e-3 |
SMART |
Blast:LRR
|
344 |
372 |
1e-6 |
BLAST |
LRR
|
400 |
425 |
1.95e-3 |
SMART |
LRR
|
450 |
475 |
1.01e-1 |
SMART |
LRR_CC
|
478 |
503 |
4.14e-7 |
SMART |
LRR
|
504 |
524 |
1.16e2 |
SMART |
LRR
|
532 |
557 |
3.69e1 |
SMART |
LRR
|
558 |
583 |
8.71e0 |
SMART |
LRR
|
584 |
609 |
1.64e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184455
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184582
|
SMART Domains |
Protein: ENSMUSP00000139158 Gene: ENSMUSG00000040410
Domain | Start | End | E-Value | Type |
FBOX
|
283 |
325 |
2.11e-3 |
SMART |
Blast:LRR
|
344 |
372 |
1e-6 |
BLAST |
LRR
|
400 |
425 |
1.95e-3 |
SMART |
LRR
|
450 |
475 |
1.01e-1 |
SMART |
LRR_CC
|
478 |
503 |
4.14e-7 |
SMART |
LRR
|
504 |
524 |
1.16e2 |
SMART |
LRR
|
532 |
557 |
3.69e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185029
|
SMART Domains |
Protein: ENSMUSP00000138825 Gene: ENSMUSG00000040410
Domain | Start | End | E-Value | Type |
FBOX
|
283 |
325 |
2.11e-3 |
SMART |
Blast:LRR
|
344 |
372 |
1e-7 |
BLAST |
Blast:LRR
|
400 |
425 |
2e-9 |
BLAST |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
98% (55/56) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
T |
C |
11: 94,236,870 (GRCm39) |
T1456A |
probably damaging |
Het |
Acad11 |
T |
C |
9: 103,950,844 (GRCm39) |
F56S |
probably damaging |
Het |
Adamts8 |
A |
G |
9: 30,867,952 (GRCm39) |
N592S |
possibly damaging |
Het |
Amh |
A |
G |
10: 80,642,755 (GRCm39) |
D313G |
probably damaging |
Het |
Ampd2 |
T |
C |
3: 107,994,052 (GRCm39) |
|
probably benign |
Het |
Arap3 |
A |
G |
18: 38,111,653 (GRCm39) |
L1115P |
probably damaging |
Het |
Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
Cd163 |
T |
C |
6: 124,304,862 (GRCm39) |
S1080P |
possibly damaging |
Het |
Ceacam10 |
A |
T |
7: 24,480,433 (GRCm39) |
Y68F |
possibly damaging |
Het |
Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
Cfh |
A |
T |
1: 140,028,613 (GRCm39) |
Y688* |
probably null |
Het |
Chrnb1 |
A |
T |
11: 69,677,773 (GRCm39) |
S326R |
probably damaging |
Het |
Cngb1 |
C |
T |
8: 96,026,344 (GRCm39) |
V25M |
probably damaging |
Het |
Cyp2c50 |
A |
T |
19: 40,079,136 (GRCm39) |
N160Y |
possibly damaging |
Het |
Dalrd3 |
T |
C |
9: 108,448,800 (GRCm39) |
|
probably benign |
Het |
Eef1d |
C |
A |
15: 75,774,648 (GRCm39) |
S253I |
possibly damaging |
Het |
Efl1 |
G |
A |
7: 82,412,491 (GRCm39) |
C960Y |
probably damaging |
Het |
Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
Epb41l2 |
C |
A |
10: 25,382,078 (GRCm39) |
D701E |
possibly damaging |
Het |
Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
Igkv10-95 |
A |
T |
6: 68,657,606 (GRCm39) |
I21F |
probably damaging |
Het |
Il10rb |
C |
A |
16: 91,204,603 (GRCm39) |
N51K |
possibly damaging |
Het |
Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
Lrig3 |
T |
C |
10: 125,849,273 (GRCm39) |
S998P |
probably benign |
Het |
Lrrc8c |
T |
A |
5: 105,755,755 (GRCm39) |
M510K |
probably benign |
Het |
Nfrkb |
G |
T |
9: 31,311,258 (GRCm39) |
C369F |
probably damaging |
Het |
Nphp1 |
T |
C |
2: 127,630,719 (GRCm39) |
E19G |
possibly damaging |
Het |
Or10a5 |
A |
C |
7: 106,635,698 (GRCm39) |
E112A |
probably damaging |
Het |
Or4f14b |
T |
C |
2: 111,775,534 (GRCm39) |
H89R |
probably benign |
Het |
Ovol3 |
A |
T |
7: 29,934,789 (GRCm39) |
|
probably null |
Het |
Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
Rims2 |
T |
C |
15: 39,301,320 (GRCm39) |
|
probably null |
Het |
Sh3rf3 |
T |
C |
10: 58,919,398 (GRCm39) |
V505A |
probably benign |
Het |
Shkbp1 |
T |
C |
7: 27,042,727 (GRCm39) |
N570S |
probably benign |
Het |
Slc35f4 |
C |
T |
14: 49,556,307 (GRCm39) |
V149I |
possibly damaging |
Het |
Snx27 |
A |
G |
3: 94,469,330 (GRCm39) |
F4L |
probably benign |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Tagap1 |
G |
A |
17: 7,223,511 (GRCm39) |
S395L |
probably benign |
Het |
Tcstv2b |
C |
A |
13: 120,373,908 (GRCm39) |
L127F |
probably damaging |
Het |
Tek |
A |
G |
4: 94,751,904 (GRCm39) |
T1014A |
probably damaging |
Het |
Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
Tpo |
T |
C |
12: 30,154,015 (GRCm39) |
Y230C |
probably damaging |
Het |
Trav12-2 |
A |
G |
14: 53,854,332 (GRCm39) |
Q102R |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,733,430 (GRCm39) |
|
probably benign |
Het |
Vmn1r183 |
A |
T |
7: 23,754,973 (GRCm39) |
I259F |
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,996,861 (GRCm39) |
E219G |
probably damaging |
Het |
Vsig8 |
G |
T |
1: 172,390,714 (GRCm39) |
G254V |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,320,246 (GRCm39) |
I1086V |
probably benign |
Het |
Zfp423 |
G |
A |
8: 88,509,601 (GRCm39) |
H123Y |
probably damaging |
Het |
Zfp811 |
A |
T |
17: 33,016,521 (GRCm39) |
C506* |
probably null |
Het |
|
Other mutations in Fbxl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01295:Fbxl4
|
APN |
4 |
22,427,348 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01973:Fbxl4
|
APN |
4 |
22,422,766 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02353:Fbxl4
|
APN |
4 |
22,433,684 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02360:Fbxl4
|
APN |
4 |
22,433,684 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02871:Fbxl4
|
APN |
4 |
22,386,213 (GRCm39) |
missense |
probably benign |
|
R0033:Fbxl4
|
UTSW |
4 |
22,377,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R0379:Fbxl4
|
UTSW |
4 |
22,386,106 (GRCm39) |
missense |
probably benign |
0.01 |
R1053:Fbxl4
|
UTSW |
4 |
22,427,166 (GRCm39) |
missense |
probably benign |
|
R1527:Fbxl4
|
UTSW |
4 |
22,386,154 (GRCm39) |
missense |
probably benign |
0.00 |
R1768:Fbxl4
|
UTSW |
4 |
22,385,950 (GRCm39) |
missense |
probably benign |
0.00 |
R2148:Fbxl4
|
UTSW |
4 |
22,427,333 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2196:Fbxl4
|
UTSW |
4 |
22,403,624 (GRCm39) |
missense |
probably benign |
|
R2850:Fbxl4
|
UTSW |
4 |
22,403,624 (GRCm39) |
missense |
probably benign |
|
R4024:Fbxl4
|
UTSW |
4 |
22,377,074 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5227:Fbxl4
|
UTSW |
4 |
22,376,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:Fbxl4
|
UTSW |
4 |
22,386,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R5595:Fbxl4
|
UTSW |
4 |
22,433,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5895:Fbxl4
|
UTSW |
4 |
22,390,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Fbxl4
|
UTSW |
4 |
22,433,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R6697:Fbxl4
|
UTSW |
4 |
22,376,599 (GRCm39) |
missense |
probably benign |
0.33 |
R6977:Fbxl4
|
UTSW |
4 |
22,376,930 (GRCm39) |
missense |
probably benign |
0.22 |
R7106:Fbxl4
|
UTSW |
4 |
22,427,140 (GRCm39) |
splice site |
probably null |
|
R7164:Fbxl4
|
UTSW |
4 |
22,386,218 (GRCm39) |
missense |
probably benign |
0.00 |
R7264:Fbxl4
|
UTSW |
4 |
22,386,145 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7502:Fbxl4
|
UTSW |
4 |
22,376,655 (GRCm39) |
missense |
probably benign |
|
R7645:Fbxl4
|
UTSW |
4 |
22,377,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R7666:Fbxl4
|
UTSW |
4 |
22,376,869 (GRCm39) |
missense |
probably benign |
0.07 |
R8152:Fbxl4
|
UTSW |
4 |
22,427,225 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8445:Fbxl4
|
UTSW |
4 |
22,385,983 (GRCm39) |
missense |
probably benign |
0.07 |
R8693:Fbxl4
|
UTSW |
4 |
22,403,704 (GRCm39) |
missense |
probably benign |
|
R8856:Fbxl4
|
UTSW |
4 |
22,390,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R9334:Fbxl4
|
UTSW |
4 |
22,376,778 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Fbxl4
|
UTSW |
4 |
22,427,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTACCTTGAAACCAAGCCAGTC -3'
(R):5'- AGGTAAGTCCTTCAAAGACACC -3'
Sequencing Primer
(F):5'- TCAATGGTGGGAGCACCTG -3'
(R):5'- GTTTGAATGTTGGGCAAAAGTATACG -3'
|
Posted On |
2015-07-07 |