Incidental Mutation 'R7541:Fbh1'
| ID |
583870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbh1
|
| Ensembl Gene |
ENSMUSG00000058594 |
| Gene Name |
F-box DNA helicase 1 |
| Synonyms |
Fbx18, Fbxo18 |
| MMRRC Submission |
045613-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R7541 (G1)
|
| Quality Score |
204.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11747384-11782393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11754348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 797
(R797G)
|
| 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: R797G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: R797G
| 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 |
probably benign
Transcript: ENSMUST00000131893
AA Change: R212G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116392
Gene: ENSMUSG00000058594
AA Change: R212G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1pjr_1
|
63 |
141 |
5e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,416,610 (GRCm39) |
|
probably null |
Het |
| Adamts10 |
G |
A |
17: 33,750,590 (GRCm39) |
R210H |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,206,775 (GRCm39) |
|
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,063,652 (GRCm39) |
M652K |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,803,491 (GRCm39) |
I560M |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,782,434 (GRCm39) |
D602G |
possibly damaging |
Het |
| Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
| Cd200l2 |
T |
A |
16: 45,348,855 (GRCm39) |
T106S |
possibly damaging |
Het |
| Cdh4 |
A |
G |
2: 179,086,603 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
T |
A |
1: 118,470,727 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,644,523 (GRCm39) |
I1255T |
probably damaging |
Het |
| Comp |
G |
T |
8: 70,834,000 (GRCm39) |
V672L |
probably damaging |
Het |
| Dbnl |
T |
G |
11: 5,745,486 (GRCm39) |
D122E |
probably damaging |
Het |
| Dgkz |
G |
A |
2: 91,773,020 (GRCm39) |
R346C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 106,033,346 (GRCm39) |
I121T |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,699,574 (GRCm39) |
L614P |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,843,681 (GRCm39) |
C856* |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,059,108 (GRCm39) |
T392A |
probably damaging |
Het |
| Gm29609 |
A |
G |
5: 31,311,576 (GRCm39) |
F855S |
probably benign |
Het |
| Gm3424 |
T |
C |
14: 17,337,195 (GRCm39) |
N88D |
possibly damaging |
Het |
| Gnas |
T |
A |
2: 174,139,892 (GRCm39) |
S80T |
unknown |
Het |
| Hsd17b14 |
C |
A |
7: 45,215,570 (GRCm39) |
P190Q |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,352,803 (GRCm39) |
V955I |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,304,122 (GRCm39) |
V164A |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,336,515 (GRCm39) |
L46P |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,984,748 (GRCm39) |
M237V |
probably benign |
Het |
| Lmbr1l |
A |
T |
15: 98,807,267 (GRCm39) |
|
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,517,686 (GRCm39) |
I408V |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,186,791 (GRCm39) |
S365G |
unknown |
Het |
| Marchf2 |
A |
T |
17: 33,922,032 (GRCm39) |
C109* |
probably null |
Het |
| Metrnl |
T |
A |
11: 121,606,796 (GRCm39) |
C284S |
probably damaging |
Het |
| Mmachc |
G |
A |
4: 116,563,082 (GRCm39) |
T91I |
probably benign |
Het |
| Mrps7 |
T |
G |
11: 115,497,696 (GRCm39) |
M187R |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,978,336 (GRCm39) |
E845G |
probably damaging |
Het |
| Nscme3l |
G |
A |
19: 5,553,439 (GRCm39) |
P114L |
probably benign |
Het |
| Ooep |
T |
A |
9: 78,285,347 (GRCm39) |
T90S |
possibly damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,376 (GRCm39) |
D139E |
probably benign |
Het |
| Or2y1g |
T |
A |
11: 49,171,160 (GRCm39) |
F62I |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,624,662 (GRCm39) |
D664V |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,763,949 (GRCm39) |
S336P |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 24,815,553 (GRCm39) |
D71E |
probably benign |
Het |
| Reep6 |
G |
T |
10: 80,171,033 (GRCm39) |
R303L |
possibly damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,935,297 (GRCm39) |
S137C |
|
Het |
| Rnf220 |
A |
T |
4: 117,347,127 (GRCm39) |
L95H |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
A |
T |
2: 32,708,517 (GRCm39) |
S83T |
probably damaging |
Het |
| Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,958,617 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,621,645 (GRCm39) |
D15598E |
probably damaging |
Het |
| Vav2 |
T |
A |
2: 27,165,014 (GRCm39) |
R645W |
probably damaging |
Het |
| Vmn1r169 |
T |
A |
7: 23,277,412 (GRCm39) |
V268D |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,735,279 (GRCm39) |
C365S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAACTAATGAGACCACCG -3'
(R):5'- TGATGACAGAGCTGCACAG -3'
Sequencing Primer
(F):5'- CAACTAATGAGACCACCGAGGAG -3'
(R):5'- CCTTTCTGAAGCACGGGGTAGAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation