Incidental Mutation 'R4507:Fbh1'
| ID |
332040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbh1
|
| Ensembl Gene |
ENSMUSG00000058594 |
| Gene Name |
F-box DNA helicase 1 |
| Synonyms |
Fbx18, Fbxo18 |
| MMRRC Submission |
041756-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R4507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11747384-11782393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11753828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 838
(V838A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071564]
[ENSMUST00000131893]
|
| AlphaFold |
Q8K2I9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071564
AA Change: V838A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: V838A
| 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 |
possibly damaging
Transcript: ENSMUST00000131893
AA Change: V253A
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116392
Gene: ENSMUSG00000058594
AA Change: V253A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1pjr_1
|
63 |
141 |
5e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155604
|
| Meta Mutation Damage Score |
0.1500 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,601 (GRCm39) |
Y83C |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,953,851 (GRCm39) |
I863N |
probably benign |
Het |
| Abr |
A |
G |
11: 76,342,683 (GRCm39) |
I608T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,565 (GRCm39) |
Y485C |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,374,681 (GRCm39) |
K38E |
possibly damaging |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,027,633 (GRCm39) |
I418L |
probably damaging |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,447,087 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,761 (GRCm39) |
T52A |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,805,771 (GRCm39) |
R3407C |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,759,177 (GRCm39) |
|
probably null |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,406,216 (GRCm39) |
T286A |
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,560,620 (GRCm39) |
I317N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,837,276 (GRCm39) |
L760I |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,387 (GRCm39) |
Y32F |
probably damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mdh1 |
C |
T |
11: 21,508,470 (GRCm39) |
V291M |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,279,415 (GRCm39) |
T963A |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,774,065 (GRCm39) |
F1305L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,201 (GRCm39) |
F29S |
possibly damaging |
Het |
| Parp11 |
A |
G |
6: 127,451,246 (GRCm39) |
R99G |
probably damaging |
Het |
| Phactr1 |
C |
A |
13: 43,250,270 (GRCm39) |
T522N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,014 (GRCm39) |
T1423A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,195,168 (GRCm39) |
I1253V |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,612 (GRCm39) |
Y486C |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,917,701 (GRCm39) |
D506G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,833 (GRCm39) |
I316V |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,013,786 (GRCm39) |
F952I |
probably damaging |
Het |
| Vat1l |
T |
C |
8: 114,932,556 (GRCm39) |
L34P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGTGGGAAAAGAACTGCTC -3'
(R):5'- GAACTGACTTGATCATGGACACAC -3'
Sequencing Primer
(F):5'- ATACTCTTAGAGCACAGCTTCTGG -3'
(R):5'- CTTGATCATGGACACACAGTGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation