Incidental Mutation 'R7460:Fbh1'
ID |
578365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbh1
|
Ensembl Gene |
ENSMUSG00000058594 |
Gene Name |
F-box DNA helicase 1 |
Synonyms |
Fbx18, Fbxo18 |
MMRRC Submission |
045534-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.335)
|
Stock # |
R7460 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
11747384-11782393 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 11761496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 597
(G597D)
|
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: G597D
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000071495 Gene: ENSMUSG00000058594 AA Change: G597D
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: G41D
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000116392 Gene: ENSMUSG00000058594 AA Change: G41D
Domain | Start | End | E-Value | Type |
SCOP:d1pjr_1
|
63 |
141 |
5e-9 |
SMART |
|
Meta Mutation Damage Score |
0.0762 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (64/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
T |
A |
1: 60,473,466 (GRCm39) |
V61D |
probably damaging |
Het |
Agrn |
C |
A |
4: 156,258,881 (GRCm39) |
V915L |
probably damaging |
Het |
Arhgap24 |
T |
C |
5: 103,040,212 (GRCm39) |
V476A |
probably benign |
Het |
Arhgef15 |
A |
G |
11: 68,837,861 (GRCm39) |
L720P |
probably damaging |
Het |
Atad2b |
C |
A |
12: 5,002,660 (GRCm39) |
R343S |
probably benign |
Het |
Atxn3 |
T |
A |
12: 101,892,776 (GRCm39) |
T313S |
probably benign |
Het |
BC051665 |
T |
C |
13: 60,932,457 (GRCm39) |
E76G |
probably benign |
Het |
Birc2 |
A |
T |
9: 7,818,762 (GRCm39) |
F610I |
probably damaging |
Het |
Cdh16 |
A |
T |
8: 105,348,923 (GRCm39) |
V58D |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,386,247 (GRCm39) |
D2011G |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,585,275 (GRCm39) |
|
probably null |
Het |
Ddx1 |
A |
G |
12: 13,281,440 (GRCm39) |
|
probably null |
Het |
Disp2 |
A |
G |
2: 118,620,261 (GRCm39) |
H331R |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,011,679 (GRCm39) |
T1279A |
probably benign |
Het |
Dync1i2 |
T |
C |
2: 71,081,230 (GRCm39) |
I473T |
probably damaging |
Het |
Fam114a1 |
T |
G |
5: 65,196,050 (GRCm39) |
V520G |
possibly damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,169,789 (GRCm39) |
D2990V |
probably damaging |
Het |
Fdxr |
A |
C |
11: 115,167,680 (GRCm39) |
S12A |
probably benign |
Het |
Fgf14 |
T |
A |
14: 124,914,105 (GRCm39) |
R9W |
possibly damaging |
Het |
Gnat3 |
A |
T |
5: 18,204,656 (GRCm39) |
D103V |
|
Het |
Hepacam2 |
G |
A |
6: 3,487,199 (GRCm39) |
P53S |
probably benign |
Het |
Inhca |
T |
C |
9: 103,131,847 (GRCm39) |
N625D |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,052,815 (GRCm39) |
T21A |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,074,013 (GRCm39) |
C930R |
|
Het |
Lrp1b |
T |
C |
2: 40,488,478 (GRCm39) |
T4536A |
|
Het |
Lrrc27 |
T |
A |
7: 138,803,574 (GRCm39) |
V166E |
probably damaging |
Het |
Mapk10 |
C |
T |
5: 103,186,443 (GRCm39) |
V90I |
probably benign |
Het |
Mfsd14b |
C |
T |
13: 65,219,837 (GRCm39) |
G339D |
probably damaging |
Het |
Mnt |
T |
A |
11: 74,734,109 (GRCm39) |
M580K |
unknown |
Het |
Mrc1 |
T |
C |
2: 14,253,680 (GRCm39) |
S234P |
probably damaging |
Het |
Mrps5 |
G |
A |
2: 127,433,811 (GRCm39) |
V75I |
not run |
Het |
Mrtfb |
G |
T |
16: 13,218,840 (GRCm39) |
Q495H |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,807,913 (GRCm39) |
D1845G |
probably damaging |
Het |
Or3a1c |
A |
T |
11: 74,046,672 (GRCm39) |
I231F |
probably damaging |
Het |
Or51a25 |
A |
T |
7: 102,373,028 (GRCm39) |
M223K |
probably benign |
Het |
Or7a40 |
C |
A |
16: 16,491,030 (GRCm39) |
A272S |
possibly damaging |
Het |
Or8b3 |
T |
C |
9: 38,314,649 (GRCm39) |
S160P |
possibly damaging |
Het |
Pdhx |
G |
A |
2: 102,877,124 (GRCm39) |
T95M |
probably damaging |
Het |
Pigb |
C |
T |
9: 72,945,957 (GRCm39) |
V72I |
probably damaging |
Het |
Prr7 |
C |
A |
13: 55,620,166 (GRCm39) |
P110Q |
unknown |
Het |
Psg22 |
A |
G |
7: 18,458,329 (GRCm39) |
D340G |
probably benign |
Het |
Ptprn2 |
T |
C |
12: 117,212,301 (GRCm39) |
S908P |
probably benign |
Het |
Ros1 |
T |
C |
10: 51,994,299 (GRCm39) |
Y1348C |
probably damaging |
Het |
Rspry1 |
T |
C |
8: 95,376,963 (GRCm39) |
I506T |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,720,596 (GRCm39) |
Y2684F |
probably benign |
Het |
Sdr16c6 |
A |
G |
4: 4,076,575 (GRCm39) |
|
probably null |
Het |
Senp7 |
A |
G |
16: 55,993,545 (GRCm39) |
T743A |
possibly damaging |
Het |
Slc6a20b |
T |
C |
9: 123,434,014 (GRCm39) |
I275V |
probably benign |
Het |
Slc6a7 |
A |
G |
18: 61,134,674 (GRCm39) |
I467T |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,226,363 (GRCm39) |
D1016G |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,554,933 (GRCm39) |
V317A |
|
Het |
Tle3 |
A |
G |
9: 61,320,366 (GRCm39) |
H598R |
probably damaging |
Het |
Tmem102 |
A |
G |
11: 69,694,949 (GRCm39) |
L341P |
probably damaging |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Trappc14 |
G |
A |
5: 138,260,991 (GRCm39) |
T218M |
probably benign |
Het |
Trhde |
T |
A |
10: 114,249,168 (GRCm39) |
D866V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,581,617 (GRCm39) |
I23092T |
probably damaging |
Het |
U2surp |
C |
A |
9: 95,344,877 (GRCm39) |
V944L |
unknown |
Het |
Urgcp |
T |
C |
11: 5,666,622 (GRCm39) |
H615R |
possibly damaging |
Het |
Vps45 |
T |
A |
3: 95,955,699 (GRCm39) |
Y97F |
probably benign |
Het |
Zc3h12c |
T |
C |
9: 52,055,402 (GRCm39) |
T136A |
probably benign |
Het |
Zfp948 |
A |
T |
17: 21,808,677 (GRCm39) |
H623L |
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 |
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'- CAAAGGTTTGCTCAGCTGCC -3'
(R):5'- CTCCGAGCACTTGAGATCTCAG -3'
Sequencing Primer
(F):5'- GCTGCCAGAGTTTCAAATAGCCTAG -3'
(R):5'- GCACTTGAGATCTCAGGGTTAAAAC -3'
|
Posted On |
2019-10-07 |