Incidental Mutation 'IGL02084:Fbh1'
| ID |
283465 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbh1
|
| Ensembl Gene |
ENSMUSG00000058594 |
| Gene Name |
F-box DNA helicase 1 |
| Synonyms |
Fbx18, Fbxo18 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
IGL02084
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
11747384-11782393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11768938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 285
(D285G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071564]
|
| AlphaFold |
Q8K2I9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071564
AA Change: D285G
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: D285G
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
213 |
256 |
3.94e-3 |
SMART |
|
Pfam:UvrD-helicase
|
626 |
692 |
8e-10 |
PFAM |
|
Pfam:UvrD_C
|
862 |
935 |
1.7e-12 |
PFAM |
|
Pfam:UvrD_C_2
|
867 |
931 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192171
|
| Coding Region Coverage |
|
| 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, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three 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 Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,021,423 (GRCm39) |
F1096L |
probably benign |
Het |
| Abcd2 |
T |
A |
15: 91,062,530 (GRCm39) |
|
probably null |
Het |
| Actr10 |
T |
C |
12: 71,001,423 (GRCm39) |
I210T |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,950 (GRCm39) |
D342V |
probably damaging |
Het |
| Bicra |
G |
A |
7: 15,721,663 (GRCm39) |
T618I |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,915,277 (GRCm39) |
Q1642K |
probably benign |
Het |
| Cenpn |
A |
G |
8: 117,667,634 (GRCm39) |
Y331C |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,376,899 (GRCm39) |
I624N |
probably benign |
Het |
| Eddm3b |
A |
T |
14: 51,354,087 (GRCm39) |
H25L |
unknown |
Het |
| Fam90a1a |
A |
G |
8: 22,449,313 (GRCm39) |
E19G |
probably benign |
Het |
| Fbxo41 |
A |
T |
6: 85,457,747 (GRCm39) |
|
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,072 (GRCm39) |
D455G |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,418,488 (GRCm39) |
Q86R |
probably benign |
Het |
| Gm45234 |
T |
C |
6: 124,724,658 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
C |
T |
11: 48,779,912 (GRCm39) |
D337N |
probably benign |
Het |
| Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
| Kcns3 |
C |
T |
12: 11,142,195 (GRCm39) |
R168Q |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,808,556 (GRCm39) |
N226Y |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,396 (GRCm39) |
N2915D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,353,167 (GRCm39) |
D1504G |
probably damaging |
Het |
| Mgat4d |
C |
T |
8: 84,095,610 (GRCm39) |
S295L |
possibly damaging |
Het |
| Mslnl |
T |
C |
17: 25,965,125 (GRCm39) |
V497A |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,555,137 (GRCm39) |
S920P |
probably damaging |
Het |
| Mynn |
C |
A |
3: 30,665,764 (GRCm39) |
H465Q |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,411,088 (GRCm39) |
E182G |
probably damaging |
Het |
| Ncln |
T |
C |
10: 81,324,430 (GRCm39) |
I417V |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,341,985 (GRCm39) |
C553* |
probably null |
Het |
| Or5k14 |
G |
A |
16: 58,693,399 (GRCm39) |
T38I |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,980 (GRCm39) |
Q24L |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,447,623 (GRCm39) |
I2257V |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,657 (GRCm39) |
S35T |
possibly damaging |
Het |
| Qrfprl |
T |
C |
6: 65,358,594 (GRCm39) |
V106A |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,336,499 (GRCm39) |
V3291A |
probably benign |
Het |
| Runx2 |
C |
T |
17: 45,035,716 (GRCm39) |
A173T |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,807,648 (GRCm39) |
Y833* |
probably null |
Het |
| Setbp1 |
G |
A |
18: 78,900,625 (GRCm39) |
A1014V |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,512 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
A |
G |
2: 163,928,527 (GRCm39) |
T120A |
probably benign |
Het |
| Taf3 |
A |
T |
2: 10,047,330 (GRCm39) |
V106D |
probably benign |
Het |
| Uchl5 |
A |
G |
1: 143,677,912 (GRCm39) |
I139V |
possibly damaging |
Het |
| Ung |
A |
G |
5: 114,268,637 (GRCm39) |
E25G |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,775,207 (GRCm39) |
V619A |
probably benign |
Het |
|
| Other mutations in Fbh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01615:Fbh1
|
APN |
2 |
11,762,334 (GRCm39) |
nonsense |
probably null |
|
|
IGL02081:Fbh1
|
APN |
2 |
11,768,938 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02082:Fbh1
|
APN |
2 |
11,768,938 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02086:Fbh1
|
APN |
2 |
11,768,938 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02369:Fbh1
|
APN |
2 |
11,751,969 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02584:Fbh1
|
APN |
2 |
11,764,769 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03138:Fbh1
|
UTSW |
2 |
11,754,320 (GRCm39) |
intron |
probably benign |
|
|
R0384:Fbh1
|
UTSW |
2 |
11,754,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Fbh1
|
UTSW |
2 |
11,763,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0972:Fbh1
|
UTSW |
2 |
11,768,899 (GRCm39) |
splice site |
probably benign |
|
|
R1420:Fbh1
|
UTSW |
2 |
11,772,493 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1827:Fbh1
|
UTSW |
2 |
11,768,699 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1832:Fbh1
|
UTSW |
2 |
11,772,211 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1960:Fbh1
|
UTSW |
2 |
11,762,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2040:Fbh1
|
UTSW |
2 |
11,774,706 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2044:Fbh1
|
UTSW |
2 |
11,767,781 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2102:Fbh1
|
UTSW |
2 |
11,763,100 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3236:Fbh1
|
UTSW |
2 |
11,774,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Fbh1
|
UTSW |
2 |
11,772,021 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4504:Fbh1
|
UTSW |
2 |
11,753,828 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4505:Fbh1
|
UTSW |
2 |
11,753,828 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4507:Fbh1
|
UTSW |
2 |
11,753,828 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4799:Fbh1
|
UTSW |
2 |
11,760,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Fbh1
|
UTSW |
2 |
11,767,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Fbh1
|
UTSW |
2 |
11,769,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Fbh1
|
UTSW |
2 |
11,753,804 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5801:Fbh1
|
UTSW |
2 |
11,774,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Fbh1
|
UTSW |
2 |
11,753,257 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7011:Fbh1
|
UTSW |
2 |
11,767,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Fbh1
|
UTSW |
2 |
11,760,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Fbh1
|
UTSW |
2 |
11,756,336 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7331:Fbh1
|
UTSW |
2 |
11,768,797 (GRCm39) |
missense |
probably benign |
|
|
R7361:Fbh1
|
UTSW |
2 |
11,751,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Fbh1
|
UTSW |
2 |
11,761,496 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7541:Fbh1
|
UTSW |
2 |
11,754,348 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8000:Fbh1
|
UTSW |
2 |
11,772,100 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8010:Fbh1
|
UTSW |
2 |
11,772,443 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8056:Fbh1
|
UTSW |
2 |
11,748,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8517:Fbh1
|
UTSW |
2 |
11,782,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8686:Fbh1
|
UTSW |
2 |
11,760,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8883:Fbh1
|
UTSW |
2 |
11,753,922 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9093:Fbh1
|
UTSW |
2 |
11,764,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9306:Fbh1
|
UTSW |
2 |
11,772,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9342:Fbh1
|
UTSW |
2 |
11,754,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation