Incidental Mutation 'R3976:Fbxw16'
ID |
312643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw16
|
Ensembl Gene |
ENSMUSG00000074062 |
Gene Name |
F-box and WD-40 domain protein 16 |
Synonyms |
7420402K12Rik |
MMRRC Submission |
040842-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R3976 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
109261386-109278208 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109268697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 231
(V231A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084984]
|
AlphaFold |
Q497Z0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084984
AA Change: V231A
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000082051 Gene: ENSMUSG00000074062 AA Change: V231A
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
2.72e-6 |
SMART |
SCOP:d1e1aa_
|
128 |
249 |
3e-5 |
SMART |
Blast:WD40
|
137 |
176 |
1e-7 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196515
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,039,615 (GRCm39) |
D466G |
probably benign |
Het |
Asb4 |
A |
T |
6: 5,390,771 (GRCm39) |
M55L |
probably benign |
Het |
Atxn7l1 |
T |
C |
12: 33,375,954 (GRCm39) |
S10P |
probably damaging |
Het |
Bola3 |
T |
C |
6: 83,328,249 (GRCm39) |
L45P |
probably benign |
Het |
Cacna2d4 |
A |
G |
6: 119,255,134 (GRCm39) |
|
probably null |
Het |
Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
Cyb5r3 |
A |
G |
15: 83,044,330 (GRCm39) |
V180A |
possibly damaging |
Het |
Dglucy |
A |
T |
12: 100,807,648 (GRCm39) |
T186S |
probably benign |
Het |
Eml5 |
A |
T |
12: 98,768,724 (GRCm39) |
|
probably benign |
Het |
Fam90a1a |
G |
A |
8: 22,451,432 (GRCm39) |
D98N |
probably damaging |
Het |
Fbxo16 |
T |
A |
14: 65,524,606 (GRCm39) |
L42Q |
probably damaging |
Het |
Fermt3 |
G |
A |
19: 6,979,792 (GRCm39) |
A447V |
possibly damaging |
Het |
Fignl2 |
A |
G |
15: 100,950,467 (GRCm39) |
L605P |
unknown |
Het |
Gcsam |
T |
G |
16: 45,440,192 (GRCm39) |
N78K |
probably damaging |
Het |
Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
Gm28042 |
C |
T |
2: 119,867,237 (GRCm39) |
H218Y |
probably benign |
Het |
Herpud2 |
A |
G |
9: 25,021,734 (GRCm39) |
V304A |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 24,053,815 (GRCm39) |
|
probably null |
Het |
Lrp3 |
T |
C |
7: 34,903,530 (GRCm39) |
D251G |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
Mepe |
C |
T |
5: 104,484,944 (GRCm39) |
P28L |
probably benign |
Het |
Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
Opn4 |
C |
T |
14: 34,319,066 (GRCm39) |
R173H |
probably benign |
Het |
Or2k2 |
A |
G |
4: 58,785,164 (GRCm39) |
L186P |
probably damaging |
Het |
Or4f14 |
C |
T |
2: 111,742,951 (GRCm39) |
G108D |
possibly damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,405 (GRCm39) |
S466T |
probably benign |
Het |
Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
Rab18 |
T |
A |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
Rel |
A |
G |
11: 23,692,939 (GRCm39) |
S365P |
probably benign |
Het |
Rhbg |
C |
A |
3: 88,151,843 (GRCm39) |
G383V |
probably damaging |
Het |
Rnps1-ps |
A |
T |
6: 7,983,149 (GRCm39) |
|
noncoding transcript |
Het |
Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
Runx2 |
T |
C |
17: 44,920,966 (GRCm39) |
T339A |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,506,182 (GRCm39) |
E3455G |
possibly damaging |
Het |
Serpina1d |
A |
T |
12: 103,734,107 (GRCm39) |
S66T |
probably benign |
Het |
Setd3 |
T |
C |
12: 108,131,417 (GRCm39) |
K3R |
possibly damaging |
Het |
Spg7 |
A |
G |
8: 123,806,187 (GRCm39) |
D299G |
probably damaging |
Het |
Sptbn5 |
C |
T |
2: 119,878,742 (GRCm39) |
|
noncoding transcript |
Het |
Srcap |
A |
G |
7: 127,148,411 (GRCm39) |
T1859A |
probably benign |
Het |
Suox |
A |
G |
10: 128,506,906 (GRCm39) |
V374A |
probably damaging |
Het |
Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
Tubal3 |
C |
T |
13: 3,982,946 (GRCm39) |
S242L |
probably benign |
Het |
Ugt2b1 |
C |
A |
5: 87,065,534 (GRCm39) |
V502L |
probably benign |
Het |
|
Other mutations in Fbxw16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02139:Fbxw16
|
APN |
9 |
109,265,754 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02801:Fbxw16
|
APN |
9 |
109,270,144 (GRCm39) |
missense |
possibly damaging |
0.73 |
milky_way
|
UTSW |
9 |
109,270,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R0041:Fbxw16
|
UTSW |
9 |
109,277,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0245:Fbxw16
|
UTSW |
9 |
109,265,236 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0389:Fbxw16
|
UTSW |
9 |
109,261,550 (GRCm39) |
missense |
probably benign |
0.03 |
R0652:Fbxw16
|
UTSW |
9 |
109,265,236 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1693:Fbxw16
|
UTSW |
9 |
109,265,327 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1772:Fbxw16
|
UTSW |
9 |
109,268,650 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1965:Fbxw16
|
UTSW |
9 |
109,270,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R2190:Fbxw16
|
UTSW |
9 |
109,265,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R2334:Fbxw16
|
UTSW |
9 |
109,267,429 (GRCm39) |
missense |
probably benign |
0.16 |
R3800:Fbxw16
|
UTSW |
9 |
109,265,665 (GRCm39) |
missense |
probably damaging |
0.99 |
R4298:Fbxw16
|
UTSW |
9 |
109,275,625 (GRCm39) |
missense |
probably benign |
0.00 |
R4914:Fbxw16
|
UTSW |
9 |
109,267,245 (GRCm39) |
missense |
probably benign |
0.01 |
R4948:Fbxw16
|
UTSW |
9 |
109,267,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R4995:Fbxw16
|
UTSW |
9 |
109,270,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Fbxw16
|
UTSW |
9 |
109,270,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R5077:Fbxw16
|
UTSW |
9 |
109,270,117 (GRCm39) |
critical splice donor site |
probably null |
|
R5111:Fbxw16
|
UTSW |
9 |
109,265,796 (GRCm39) |
missense |
probably benign |
0.11 |
R5294:Fbxw16
|
UTSW |
9 |
109,265,712 (GRCm39) |
missense |
probably benign |
0.34 |
R5901:Fbxw16
|
UTSW |
9 |
109,270,285 (GRCm39) |
missense |
probably benign |
0.06 |
R6295:Fbxw16
|
UTSW |
9 |
109,277,837 (GRCm39) |
intron |
probably benign |
|
R6303:Fbxw16
|
UTSW |
9 |
109,278,169 (GRCm39) |
missense |
probably benign |
0.00 |
R6664:Fbxw16
|
UTSW |
9 |
109,267,326 (GRCm39) |
missense |
probably benign |
0.27 |
R6670:Fbxw16
|
UTSW |
9 |
109,267,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R6890:Fbxw16
|
UTSW |
9 |
109,265,810 (GRCm39) |
missense |
probably benign |
0.14 |
R7056:Fbxw16
|
UTSW |
9 |
109,265,352 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7073:Fbxw16
|
UTSW |
9 |
109,270,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R7344:Fbxw16
|
UTSW |
9 |
109,278,103 (GRCm39) |
missense |
probably benign |
0.00 |
R7396:Fbxw16
|
UTSW |
9 |
109,278,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Fbxw16
|
UTSW |
9 |
109,268,619 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7568:Fbxw16
|
UTSW |
9 |
109,268,657 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7735:Fbxw16
|
UTSW |
9 |
109,270,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Fbxw16
|
UTSW |
9 |
109,277,222 (GRCm39) |
missense |
probably damaging |
0.96 |
R7998:Fbxw16
|
UTSW |
9 |
109,265,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R9019:Fbxw16
|
UTSW |
9 |
109,270,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R9111:Fbxw16
|
UTSW |
9 |
109,265,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R9216:Fbxw16
|
UTSW |
9 |
109,276,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R9758:Fbxw16
|
UTSW |
9 |
109,278,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGTCTGCCTGGACTTAC -3'
(R):5'- AGGTCTAGGGACTCTTATTCCTTG -3'
Sequencing Primer
(F):5'- GACTTACCTGAGGACTGGACTTTC -3'
(R):5'- AGGGACTCTTATTCCTTGGAATCAC -3'
|
Posted On |
2015-04-30 |