Incidental Mutation 'R5161:Fbxl8'
| ID |
397000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl8
|
| Ensembl Gene |
ENSMUSG00000033313 |
| Gene Name |
F-box and leucine-rich repeat protein 8 |
| Synonyms |
FBL8 |
| MMRRC Submission |
042743-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5161 (G1)
|
| Quality Score |
125 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105991280-105995958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105995538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 350
(H350L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034359]
[ENSMUST00000036127]
[ENSMUST00000036221]
[ENSMUST00000126923]
[ENSMUST00000144762]
[ENSMUST00000163734]
[ENSMUST00000173102]
[ENSMUST00000173859]
[ENSMUST00000172525]
[ENSMUST00000173640]
[ENSMUST00000174837]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000036221
AA Change: H350L
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000038638
Gene: ENSMUSG00000033313
AA Change: H350L
| 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: ENSMUST00000173102
|
| 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 |
|
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.1839 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,055,344 (GRCm39) |
E27* |
probably null |
Het |
| 4930407I10Rik |
G |
T |
15: 81,947,542 (GRCm39) |
E480* |
probably null |
Het |
| Acad11 |
T |
C |
9: 104,001,227 (GRCm39) |
I591T |
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,189,888 (GRCm39) |
I305F |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,883,020 (GRCm39) |
E857K |
probably benign |
Het |
| Atf2 |
A |
C |
2: 73,660,134 (GRCm39) |
|
probably null |
Het |
| Cass4 |
C |
A |
2: 172,274,244 (GRCm39) |
A675E |
probably damaging |
Het |
| Coa8 |
C |
A |
12: 111,689,208 (GRCm39) |
Q97K |
possibly damaging |
Het |
| Ctsd |
A |
T |
7: 141,930,881 (GRCm39) |
L283Q |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,505,296 (GRCm39) |
M1K |
probably null |
Het |
| Dipk1b |
C |
T |
2: 26,526,260 (GRCm39) |
T398M |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,335,791 (GRCm39) |
A62T |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,748,207 (GRCm39) |
D407G |
possibly damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,978,887 (GRCm39) |
D90E |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,974,467 (GRCm39) |
V37A |
probably damaging |
Het |
| Fam20a |
C |
T |
11: 109,564,196 (GRCm39) |
R519Q |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,405,549 (GRCm39) |
T767A |
probably benign |
Het |
| Gm10226 |
A |
C |
17: 21,910,834 (GRCm39) |
Q23P |
possibly damaging |
Het |
| Gm38706 |
A |
T |
6: 130,459,868 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch2l |
G |
T |
12: 86,313,950 (GRCm39) |
R362L |
probably benign |
Het |
| Hyal5 |
A |
T |
6: 24,891,602 (GRCm39) |
D472V |
probably benign |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,699,777 (GRCm39) |
S102G |
possibly damaging |
Het |
| Itpripl1 |
A |
C |
2: 126,983,777 (GRCm39) |
L115R |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,705,726 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Krt88 |
T |
A |
15: 101,348,349 (GRCm39) |
C12S |
probably benign |
Het |
| Macroh2a1 |
T |
C |
13: 56,237,594 (GRCm39) |
D222G |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,582,895 (GRCm39) |
V2557M |
probably damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,936 (GRCm39) |
Q1996K |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,919,430 (GRCm39) |
E6205G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,136 (GRCm39) |
Y3926H |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,546 (GRCm39) |
|
probably null |
Het |
| Or5an10 |
A |
T |
19: 12,276,153 (GRCm39) |
S114R |
probably damaging |
Het |
| P2ry2 |
A |
T |
7: 100,648,136 (GRCm39) |
Y56* |
probably null |
Het |
| Pate10 |
T |
A |
9: 35,652,884 (GRCm39) |
L42* |
probably null |
Het |
| Pde1a |
T |
C |
2: 79,708,488 (GRCm39) |
N242S |
probably null |
Het |
| Pik3cg |
C |
T |
12: 32,254,977 (GRCm39) |
E337K |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,433,712 (GRCm39) |
N587S |
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,285,183 (GRCm39) |
|
probably null |
Het |
| Ptpn4 |
C |
T |
1: 119,635,593 (GRCm39) |
W370* |
probably null |
Het |
| Qki |
A |
T |
17: 10,434,419 (GRCm39) |
|
probably null |
Het |
| Rapgef3 |
A |
G |
15: 97,655,606 (GRCm39) |
V427A |
probably damaging |
Het |
| Rbbp8 |
T |
G |
18: 11,855,171 (GRCm39) |
D465E |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,594,935 (GRCm39) |
K1928R |
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,492 (GRCm39) |
C346G |
probably damaging |
Het |
| Spata2l |
A |
G |
8: 123,962,288 (GRCm39) |
L91P |
probably damaging |
Het |
| Syt3 |
C |
A |
7: 44,045,439 (GRCm39) |
H560N |
possibly damaging |
Het |
| Timm23 |
G |
A |
14: 31,915,882 (GRCm39) |
P63L |
probably damaging |
Het |
| Tmem191 |
T |
C |
16: 17,094,743 (GRCm39) |
S108P |
possibly damaging |
Het |
| Ttc21b |
A |
G |
2: 66,059,367 (GRCm39) |
C545R |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Usp17ld |
A |
T |
7: 102,899,579 (GRCm39) |
L451* |
probably null |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,497 (GRCm39) |
Y122H |
probably benign |
Het |
| Vxn |
G |
T |
1: 9,692,902 (GRCm39) |
G145* |
probably null |
Het |
| Zfp1002 |
A |
T |
2: 150,097,135 (GRCm39) |
I98K |
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 |
|
R6597:Fbxl8
|
UTSW |
8 |
105,995,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AGTCAACGGAGCCCCTAAAG -3'
Sequencing Primer
(F):5'- TCTCCGGTGACACTGTAGGAC -3'
(R):5'- CCCTAAAGAGACTAGCAACTGGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation