Incidental Mutation 'R6597:Fbxl8'
| ID |
524941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl8
|
| Ensembl Gene |
ENSMUSG00000033313 |
| Gene Name |
F-box and leucine-rich repeat protein 8 |
| Synonyms |
FBL8 |
| MMRRC Submission |
044721-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6597 (G1)
|
| Quality Score |
90.0077 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105991280-105995958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 105995523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 345
(D345A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034359]
[ENSMUST00000036127]
[ENSMUST00000036221]
[ENSMUST00000126923]
[ENSMUST00000144762]
[ENSMUST00000163734]
[ENSMUST00000172525]
[ENSMUST00000173102]
[ENSMUST00000174837]
[ENSMUST00000173640]
[ENSMUST00000173859]
|
| AlphaFold |
Q8CIG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034359
|
| SMART Domains |
Protein: ENSMUSP00000034359
Gene: ENSMUSG00000031887
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRADD_N
|
51 |
161 |
2.9e-49 |
PFAM |
|
DEATH
|
203 |
303 |
1.14e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036127
|
| SMART Domains |
Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
383 |
8e-88 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036221
AA Change: D345A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038638
Gene: ENSMUSG00000033313
AA Change: D345A
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
48 |
2.72e-6 |
SMART |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126923
|
| SMART Domains |
Protein: ENSMUSP00000115366
Gene: ENSMUSG00000033313
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
48 |
2.72e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144762
|
| SMART Domains |
Protein: ENSMUSP00000119174
Gene: ENSMUSG00000031887
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1F2H|A
|
1 |
50 |
7e-23 |
PDB |
|
SCOP:d1f3va_
|
8 |
50 |
4e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147670
|
| SMART Domains |
Protein: ENSMUSP00000115535
Gene: ENSMUSG00000031887
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1F2H|A
|
1 |
56 |
6e-23 |
PDB |
|
SCOP:d1f3va_
|
8 |
50 |
1e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163734
|
| SMART Domains |
Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
9 |
60 |
1.43e-1 |
SMART |
|
Blast:HSF
|
99 |
323 |
2e-88 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172525
|
| SMART Domains |
Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
243 |
3e-36 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173102
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174837
|
| SMART Domains |
Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
290 |
3e-50 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173640
|
| SMART Domains |
Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
284 |
1e-50 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173859
|
| SMART Domains |
Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
353 |
1e-46 |
BLAST |
|
| Meta Mutation Damage Score |
0.1346 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (50/50) |
| 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 is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,625,080 (GRCm39) |
Y486C |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,550,321 (GRCm39) |
T118S |
probably damaging |
Het |
| Atl2 |
T |
A |
17: 80,160,195 (GRCm39) |
D293V |
possibly damaging |
Het |
| Bbs1 |
T |
A |
19: 4,949,334 (GRCm39) |
M242L |
probably benign |
Het |
| Btg1 |
T |
A |
10: 96,454,182 (GRCm39) |
S65T |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,834,902 (GRCm39) |
D1101G |
possibly damaging |
Het |
| Cmpk2 |
G |
T |
12: 26,524,144 (GRCm39) |
V314L |
possibly damaging |
Het |
| Gys2 |
T |
A |
6: 142,402,035 (GRCm39) |
H268L |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,491,403 (GRCm39) |
R117* |
probably null |
Het |
| Hoxd10 |
G |
A |
2: 74,522,984 (GRCm39) |
A221T |
probably benign |
Het |
| Hspa13 |
A |
T |
16: 75,562,085 (GRCm39) |
L38Q |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,153,927 (GRCm39) |
A87E |
probably damaging |
Het |
| Ipo11 |
A |
G |
13: 107,002,371 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
A |
G |
12: 119,137,133 (GRCm39) |
V390A |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 34,003,117 (GRCm39) |
I1370F |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,276,485 (GRCm39) |
N6086S |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,170,303 (GRCm39) |
T14A |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,008 (GRCm39) |
C116S |
probably benign |
Het |
| Or55b10 |
A |
T |
7: 102,143,628 (GRCm39) |
I118N |
probably damaging |
Het |
| Or5ac22 |
C |
T |
16: 59,135,713 (GRCm39) |
R19H |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,923,413 (GRCm39) |
F289S |
probably damaging |
Het |
| Or8b47 |
A |
T |
9: 38,435,300 (GRCm39) |
I91F |
probably benign |
Het |
| Or9q1 |
T |
A |
19: 13,805,821 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
T |
A |
2: 122,016,645 (GRCm39) |
|
probably benign |
Het |
| Pcdhga7 |
T |
C |
18: 37,850,059 (GRCm39) |
S689P |
probably benign |
Het |
| Pitpnc1 |
G |
T |
11: 107,117,058 (GRCm39) |
Y227* |
probably null |
Het |
| Pla2g2e |
T |
C |
4: 138,607,984 (GRCm39) |
V22A |
unknown |
Het |
| Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,431,957 (GRCm39) |
|
probably null |
Het |
| Rabgef1 |
G |
A |
5: 130,219,885 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
T |
17: 26,059,886 (GRCm39) |
W341R |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,482,381 (GRCm39) |
W286R |
probably benign |
Het |
| Rrs1 |
A |
G |
1: 9,616,601 (GRCm39) |
T285A |
probably damaging |
Het |
| Shc3 |
T |
A |
13: 51,597,009 (GRCm39) |
D338V |
possibly damaging |
Het |
| Siglech |
A |
T |
7: 55,418,211 (GRCm39) |
M60L |
probably benign |
Het |
| Slc12a6 |
G |
T |
2: 112,183,280 (GRCm39) |
V756F |
probably damaging |
Het |
| Slc43a2 |
G |
A |
11: 75,462,681 (GRCm39) |
G507D |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,248 (GRCm39) |
S789P |
probably benign |
Het |
| Spata31d1d |
C |
A |
13: 59,873,871 (GRCm39) |
M1221I |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,628,276 (GRCm39) |
N899D |
probably benign |
Het |
| Stag1 |
G |
A |
9: 100,769,473 (GRCm39) |
M529I |
probably benign |
Het |
| Tekt3 |
A |
G |
11: 62,972,085 (GRCm39) |
D247G |
probably benign |
Het |
| Tmppe |
A |
T |
9: 114,234,312 (GRCm39) |
M204L |
probably benign |
Het |
| Tpsg1 |
G |
A |
17: 25,588,271 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,628,315 (GRCm39) |
V6288A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,723,444 (GRCm39) |
|
probably benign |
Het |
| Twsg1 |
C |
A |
17: 66,244,799 (GRCm39) |
V73F |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,450 (GRCm39) |
T672A |
probably damaging |
Het |
| Vps36 |
A |
G |
8: 22,692,320 (GRCm39) |
I66V |
probably benign |
Het |
| Xrcc4 |
A |
T |
13: 90,149,048 (GRCm39) |
D157E |
probably benign |
Het |
| Zbbx |
T |
A |
3: 75,043,761 (GRCm39) |
Q162L |
probably damaging |
Het |
| Zfp560 |
T |
A |
9: 20,259,297 (GRCm39) |
I522L |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,539 (GRCm39) |
N984S |
probably damaging |
Het |
|
| Other mutations in Fbxl8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02794:Fbxl8
|
APN |
8 |
105,994,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03405:Fbxl8
|
APN |
8 |
105,994,752 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0993:Fbxl8
|
UTSW |
8 |
105,993,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Fbxl8
|
UTSW |
8 |
105,995,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Fbxl8
|
UTSW |
8 |
105,994,856 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3848:Fbxl8
|
UTSW |
8 |
105,993,781 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3850:Fbxl8
|
UTSW |
8 |
105,993,781 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4957:Fbxl8
|
UTSW |
8 |
105,994,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5153:Fbxl8
|
UTSW |
8 |
105,993,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5161:Fbxl8
|
UTSW |
8 |
105,995,538 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6603:Fbxl8
|
UTSW |
8 |
105,994,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6962:Fbxl8
|
UTSW |
8 |
105,995,338 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7044:Fbxl8
|
UTSW |
8 |
105,993,647 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7566:Fbxl8
|
UTSW |
8 |
105,994,938 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8027:Fbxl8
|
UTSW |
8 |
105,994,758 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCCTCTGCCTGATGAAG -3'
(R):5'- AGTCAACGGAGCCCCTAAAGAG -3'
Sequencing Primer
(F):5'- TCTCCGGTGACACTGTAGGAC -3'
(R):5'- CCCTAAAGAGACTAGCAACTGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation