Incidental Mutation 'IGL02584:Fbh1'
ID |
299485 |
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: 0.447)
|
Stock # |
IGL02584
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
11747384-11782393 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 11764769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 455
(L455H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071495
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071564]
[ENSMUST00000131893]
|
AlphaFold |
Q8K2I9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071564
AA Change: L455H
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000071495 Gene: ENSMUSG00000058594 AA Change: L455H
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: ENSMUST00000123723
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126543
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131893
|
SMART Domains |
Protein: ENSMUSP00000116392 Gene: ENSMUSG00000058594
Domain | Start | End | E-Value | Type |
SCOP:d1pjr_1
|
63 |
141 |
5e-9 |
SMART |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110057P08Rik |
A |
T |
16: 88,971,744 (GRCm39) |
Y22F |
unknown |
Het |
Adgrb3 |
A |
G |
1: 25,544,065 (GRCm39) |
L312P |
probably damaging |
Het |
Anpep |
T |
C |
7: 79,475,141 (GRCm39) |
|
probably benign |
Het |
Arhgef6 |
T |
G |
X: 56,291,738 (GRCm39) |
|
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,884,146 (GRCm39) |
D989G |
probably damaging |
Het |
Ccnj |
T |
A |
19: 40,833,185 (GRCm39) |
V121E |
probably benign |
Het |
Cdyl |
T |
C |
13: 35,867,769 (GRCm39) |
L15P |
probably benign |
Het |
Cnrip1 |
T |
A |
11: 17,028,536 (GRCm39) |
M156K |
probably damaging |
Het |
Cryga |
T |
A |
1: 65,142,175 (GRCm39) |
S73C |
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,758,580 (GRCm39) |
T240A |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,699,387 (GRCm39) |
S1789P |
probably damaging |
Het |
Esr2 |
A |
T |
12: 76,192,036 (GRCm39) |
W331R |
probably damaging |
Het |
Gm21698 |
T |
A |
5: 26,192,391 (GRCm39) |
E65V |
probably damaging |
Het |
Grm8 |
G |
T |
6: 27,762,438 (GRCm39) |
F262L |
probably benign |
Het |
Haus3 |
A |
T |
5: 34,323,602 (GRCm39) |
L336* |
probably null |
Het |
Hfm1 |
A |
C |
5: 107,026,528 (GRCm39) |
|
probably null |
Het |
Hgfac |
T |
C |
5: 35,201,305 (GRCm39) |
|
probably benign |
Het |
Ighv1-22 |
T |
C |
12: 114,709,942 (GRCm39) |
E101G |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,085,374 (GRCm39) |
E1027G |
probably damaging |
Het |
Lypd5 |
A |
T |
7: 24,052,993 (GRCm39) |
T217S |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,189,587 (GRCm39) |
|
probably benign |
Het |
Mzf1 |
A |
G |
7: 12,786,744 (GRCm39) |
W109R |
probably damaging |
Het |
Ndufb4 |
A |
T |
16: 37,469,532 (GRCm39) |
|
probably benign |
Het |
Ntn1 |
A |
G |
11: 68,168,356 (GRCm39) |
V367A |
probably damaging |
Het |
Oprk1 |
A |
G |
1: 5,668,827 (GRCm39) |
K91R |
probably damaging |
Het |
Or5m11b |
C |
T |
2: 85,806,219 (GRCm39) |
L211F |
probably damaging |
Het |
Pdlim1 |
A |
G |
19: 40,231,844 (GRCm39) |
|
probably null |
Het |
Ppp1r11 |
G |
A |
17: 37,260,781 (GRCm39) |
R61C |
probably damaging |
Het |
Racgap1 |
T |
C |
15: 99,521,515 (GRCm39) |
D547G |
probably benign |
Het |
Sema4b |
A |
G |
7: 79,874,736 (GRCm39) |
T709A |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Supt5 |
T |
C |
7: 28,025,592 (GRCm39) |
H218R |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,582,063 (GRCm39) |
I426N |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,677,097 (GRCm39) |
N696S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,566,506 (GRCm39) |
N26383S |
possibly damaging |
Het |
Vax2 |
A |
G |
6: 83,688,495 (GRCm39) |
T73A |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
IGL02084: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 |
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 |