Incidental Mutation 'R7264:Fbxl4'
| ID |
564798 |
| 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 |
045354-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.464)
|
| Stock # |
R7264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
22357543-22434091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22386145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 251
(Y251H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039234]
[ENSMUST00000184455]
[ENSMUST00000184582]
[ENSMUST00000185029]
|
| AlphaFold |
Q8BH70 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039234
AA Change: Y251H
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: Y251H
| 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 damaging
Transcript: ENSMUST00000184455
AA Change: Y251H
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184582
AA Change: Y251H
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: Y251H
| 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 damaging
Transcript: ENSMUST00000185029
AA Change: Y251H
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138825
Gene: ENSMUSG00000040410
AA Change: Y251H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
C |
A |
3: 105,812,141 (GRCm39) |
T9K |
probably benign |
Het |
| Ankib1 |
T |
A |
5: 3,805,739 (GRCm39) |
N176I |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,385,689 (GRCm39) |
G346D |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,348,732 (GRCm39) |
M800K |
probably benign |
Het |
| Arhgef16 |
C |
T |
4: 154,365,387 (GRCm39) |
G576D |
probably damaging |
Het |
| C2cd2 |
C |
A |
16: 97,677,419 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,579,156 (GRCm39) |
N1847S |
|
Het |
| Camta1 |
A |
G |
4: 151,537,856 (GRCm39) |
I108T |
probably damaging |
Het |
| Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
| Cep192 |
A |
G |
18: 67,953,426 (GRCm39) |
Y481C |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,821,071 (GRCm39) |
E887G |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,275,772 (GRCm39) |
A298D |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,979,248 (GRCm39) |
N1305S |
unknown |
Het |
| Depdc5 |
T |
C |
5: 33,125,089 (GRCm39) |
V1155A |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,991,851 (GRCm39) |
D3050E |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,557,973 (GRCm39) |
D2147G |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,252,920 (GRCm39) |
M622V |
probably benign |
Het |
| Gm3402 |
T |
A |
5: 146,451,472 (GRCm39) |
M110K |
probably damaging |
Het |
| Gm8257 |
T |
A |
14: 44,893,817 (GRCm39) |
E82D |
probably damaging |
Het |
| Gne |
T |
A |
4: 44,042,175 (GRCm39) |
I498F |
probably damaging |
Het |
| Grep1 |
A |
G |
17: 23,931,308 (GRCm39) |
S200P |
not run |
Het |
| Gstcd |
C |
T |
3: 132,790,540 (GRCm39) |
V76I |
probably benign |
Het |
| Hgs |
G |
T |
11: 120,365,139 (GRCm39) |
V176L |
probably benign |
Het |
| Hrob |
T |
A |
11: 102,146,422 (GRCm39) |
C233S |
probably benign |
Het |
| Igbp1b |
T |
C |
6: 138,635,108 (GRCm39) |
N112S |
possibly damaging |
Het |
| Itga11 |
A |
T |
9: 62,653,190 (GRCm39) |
T355S |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,050,292 (GRCm39) |
H301L |
|
Het |
| Lhx9 |
T |
C |
1: 138,760,489 (GRCm39) |
D296G |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,427,962 (GRCm39) |
G537D |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,950,844 (GRCm39) |
I581V |
possibly damaging |
Het |
| Mrps36 |
A |
G |
13: 100,875,707 (GRCm39) |
S36P |
probably benign |
Het |
| Or52z13 |
T |
A |
7: 103,246,955 (GRCm39) |
I144N |
probably damaging |
Het |
| Plcb4 |
A |
T |
2: 135,807,000 (GRCm39) |
N547I |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,083,424 (GRCm39) |
M505L |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,329,818 (GRCm39) |
N154Y |
not run |
Het |
| Rev1 |
A |
T |
1: 38,124,682 (GRCm39) |
V420D |
probably damaging |
Het |
| Rin3 |
A |
G |
12: 102,356,374 (GRCm39) |
I972V |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,993,654 (GRCm39) |
L775P |
not run |
Het |
| Scarf2 |
G |
T |
16: 17,621,154 (GRCm39) |
C274F |
possibly damaging |
Het |
| Serinc2 |
C |
T |
4: 130,152,052 (GRCm39) |
V271I |
probably benign |
Het |
| Slpi |
C |
A |
2: 164,198,322 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
C |
T |
3: 94,173,045 (GRCm39) |
H14Y |
possibly damaging |
Het |
| Stxbp6 |
T |
C |
12: 44,948,782 (GRCm39) |
D109G |
probably damaging |
Het |
| Tmem74 |
G |
A |
15: 43,730,864 (GRCm39) |
L60F |
probably benign |
Het |
| Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,751,333 (GRCm39) |
S1610P |
probably benign |
Het |
| Ttc33 |
C |
T |
15: 5,246,718 (GRCm39) |
Q175* |
probably null |
Het |
| Usp34 |
A |
G |
11: 23,283,566 (GRCm39) |
T106A |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,741,167 (GRCm39) |
D266G |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 102,003,389 (GRCm39) |
A2905S |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,190 (GRCm39) |
L567P |
probably damaging |
Het |
| Zfp42 |
T |
C |
8: 43,749,312 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp957 |
A |
G |
14: 79,451,080 (GRCm39) |
F240L |
probably damaging |
Het |
| Zgrf1 |
A |
T |
3: 127,357,218 (GRCm39) |
M815L |
probably benign |
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 |
|
R4425:Fbxl4
|
UTSW |
4 |
22,422,699 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- AAGGTGAATGCTTCCCAGGC -3'
(R):5'- GCCTAGGCCAAAACTTACAGATAG -3'
Sequencing Primer
(F):5'- AGGCTCGTCAGTTTAAACCTTG -3'
(R):5'- GAATATAGACTAAGGTTGGCAAAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation