Incidental Mutation 'R6412:Fbxw26'
| ID |
514633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw26
|
| Ensembl Gene |
ENSMUSG00000059547 |
| Gene Name |
F-box and WD-40 domain protein 26 |
| Synonyms |
Gm5163 |
| MMRRC Submission |
044385-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109546634-109575157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109561715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 160
(M160L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071917]
|
| AlphaFold |
Q8BI58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071917
AA Change: M160L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071811
Gene: ENSMUSG00000059547
AA Change: M160L
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
2.54e-6 |
SMART |
|
SCOP:d1tbga_
|
128 |
249 |
1e-5 |
SMART |
|
Blast:WD40
|
137 |
176 |
4e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,807,116 (GRCm39) |
I480V |
probably benign |
Het |
| BC025920 |
T |
C |
10: 81,445,195 (GRCm39) |
V106A |
probably benign |
Het |
| Bhlhe23 |
A |
G |
2: 180,417,963 (GRCm39) |
F192L |
possibly damaging |
Het |
| Cftr |
C |
T |
6: 18,285,603 (GRCm39) |
T1137I |
probably damaging |
Het |
| Chst8 |
T |
C |
7: 34,375,504 (GRCm39) |
M112V |
probably benign |
Het |
| Cilk1 |
T |
C |
9: 78,047,258 (GRCm39) |
S53P |
probably damaging |
Het |
| Gm3264 |
A |
G |
14: 16,058,238 (GRCm39) |
K81R |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,857,819 (GRCm39) |
N141S |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,929 (GRCm39) |
S425G |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,638 (GRCm39) |
E64G |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,255,455 (GRCm39) |
T196A |
probably benign |
Het |
| Luzp2 |
T |
C |
7: 54,707,794 (GRCm39) |
S61P |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,202 (GRCm39) |
A239D |
probably damaging |
Het |
| Or5l14 |
A |
T |
2: 87,792,693 (GRCm39) |
L181Q |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,865 (GRCm39) |
V759A |
probably damaging |
Het |
| Ret |
C |
T |
6: 118,161,245 (GRCm39) |
R77H |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sbno1 |
T |
C |
5: 124,530,777 (GRCm39) |
T840A |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,059,276 (GRCm39) |
V1057A |
possibly damaging |
Het |
| Spocd1 |
C |
T |
4: 129,847,365 (GRCm39) |
S518L |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,897,339 (GRCm39) |
L723R |
probably damaging |
Het |
| Vmn1r223 |
G |
T |
13: 23,433,825 (GRCm39) |
V140F |
probably benign |
Het |
| Vmn2r52 |
A |
G |
7: 9,904,936 (GRCm39) |
V301A |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,656,279 (GRCm39) |
F2615L |
probably benign |
Het |
| Wdr81 |
G |
T |
11: 75,341,989 (GRCm39) |
P1093T |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,242,902 (GRCm39) |
E135G |
probably benign |
Het |
| Zfp990 |
C |
A |
4: 145,264,138 (GRCm39) |
P379T |
probably benign |
Het |
|
| Other mutations in Fbxw26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Fbxw26
|
APN |
9 |
109,547,016 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01072:Fbxw26
|
APN |
9 |
109,552,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01151:Fbxw26
|
APN |
9 |
109,550,848 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01394:Fbxw26
|
APN |
9 |
109,547,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01432:Fbxw26
|
APN |
9 |
109,547,043 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02559:Fbxw26
|
APN |
9 |
109,551,232 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02981:Fbxw26
|
APN |
9 |
109,573,862 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03370:Fbxw26
|
APN |
9 |
109,575,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Fbxw26
|
UTSW |
9 |
109,547,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0087:Fbxw26
|
UTSW |
9 |
109,554,006 (GRCm39) |
missense |
probably benign |
|
|
R0369:Fbxw26
|
UTSW |
9 |
109,552,780 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0446:Fbxw26
|
UTSW |
9 |
109,572,788 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1844:Fbxw26
|
UTSW |
9 |
109,553,946 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1891:Fbxw26
|
UTSW |
9 |
109,551,232 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2042:Fbxw26
|
UTSW |
9 |
109,561,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Fbxw26
|
UTSW |
9 |
109,572,828 (GRCm39) |
nonsense |
probably null |
|
|
R3616:Fbxw26
|
UTSW |
9 |
109,572,828 (GRCm39) |
nonsense |
probably null |
|
|
R4659:Fbxw26
|
UTSW |
9 |
109,573,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4785:Fbxw26
|
UTSW |
9 |
109,553,868 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4898:Fbxw26
|
UTSW |
9 |
109,547,037 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5791:Fbxw26
|
UTSW |
9 |
109,574,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5818:Fbxw26
|
UTSW |
9 |
109,561,634 (GRCm39) |
missense |
probably benign |
|
|
R5921:Fbxw26
|
UTSW |
9 |
109,575,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5983:Fbxw26
|
UTSW |
9 |
109,547,033 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6145:Fbxw26
|
UTSW |
9 |
109,561,691 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6209:Fbxw26
|
UTSW |
9 |
109,547,033 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6842:Fbxw26
|
UTSW |
9 |
109,553,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Fbxw26
|
UTSW |
9 |
109,554,012 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7451:Fbxw26
|
UTSW |
9 |
109,561,691 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7467:Fbxw26
|
UTSW |
9 |
109,561,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8397:Fbxw26
|
UTSW |
9 |
109,561,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8912:Fbxw26
|
UTSW |
9 |
109,561,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9284:Fbxw26
|
UTSW |
9 |
109,550,962 (GRCm39) |
intron |
probably benign |
|
|
R9479:Fbxw26
|
UTSW |
9 |
109,561,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9694:Fbxw26
|
UTSW |
9 |
109,575,135 (GRCm39) |
start gained |
probably benign |
|
|
X0020:Fbxw26
|
UTSW |
9 |
109,561,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAAATTGGCAAGTGTTTTGTTC -3'
(R):5'- CTTTTCTTGTAAGAAGGGATTCCACTC -3'
Sequencing Primer
(F):5'- ACTATTCCAGATTTGGCGGG -3'
(R):5'- CTCTGGATTAGGCTTCCAAATAAAGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation