Incidental Mutation 'R0041:Fbxw16'
ID |
201492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw16
|
Ensembl Gene |
ENSMUSG00000074062 |
Gene Name |
F-box and WD-40 domain protein 16 |
Synonyms |
7420402K12Rik |
MMRRC Submission |
038335-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R0041 (G1)
|
Quality Score |
60 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
109261386-109278208 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109277232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 37
(S37C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084984]
|
AlphaFold |
Q497Z0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084984
AA Change: S37C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000082051 Gene: ENSMUSG00000074062 AA Change: S37C
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197559
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
Validation Efficiency |
97% (58/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
A |
G |
2: 26,873,986 (GRCm39) |
R412G |
probably damaging |
Het |
Adamts3 |
T |
A |
5: 89,832,326 (GRCm39) |
N927Y |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
Agpat3 |
C |
A |
10: 78,123,881 (GRCm39) |
|
probably benign |
Het |
AI182371 |
T |
A |
2: 34,975,733 (GRCm39) |
Q277L |
possibly damaging |
Het |
Arhgef15 |
A |
T |
11: 68,845,342 (GRCm39) |
L170Q |
possibly damaging |
Het |
Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
Bspry |
G |
C |
4: 62,404,791 (GRCm39) |
A196P |
probably damaging |
Het |
Cacna1c |
T |
A |
6: 118,570,988 (GRCm39) |
L2095F |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,651 (GRCm39) |
S908C |
probably damaging |
Het |
Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
Dynap |
A |
G |
18: 70,375,105 (GRCm39) |
S37P |
possibly damaging |
Het |
Efna5 |
A |
T |
17: 62,914,467 (GRCm39) |
|
probably benign |
Het |
Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
Galnt4 |
A |
G |
10: 98,944,374 (GRCm39) |
Y33C |
probably benign |
Het |
Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
Krt71 |
C |
A |
15: 101,647,753 (GRCm39) |
E222D |
probably damaging |
Het |
Ltf |
T |
A |
9: 110,858,636 (GRCm39) |
D461E |
possibly damaging |
Het |
Mapk4 |
A |
T |
18: 74,068,109 (GRCm39) |
L274Q |
probably damaging |
Het |
Mbd6 |
A |
G |
10: 127,122,741 (GRCm39) |
C103R |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,321,030 (GRCm39) |
N2047S |
probably benign |
Het |
Nefh |
C |
T |
11: 4,895,184 (GRCm39) |
S335N |
possibly damaging |
Het |
Obscn |
G |
T |
11: 58,934,803 (GRCm39) |
H4715N |
probably damaging |
Het |
Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
Or6d13 |
G |
A |
6: 116,518,295 (GRCm39) |
V294I |
possibly damaging |
Het |
Or8g34 |
T |
A |
9: 39,372,772 (GRCm39) |
F12Y |
probably benign |
Het |
Pck1 |
A |
G |
2: 172,997,003 (GRCm39) |
E215G |
probably benign |
Het |
Peg12 |
T |
A |
7: 62,113,308 (GRCm39) |
E263V |
unknown |
Het |
Phkg1 |
T |
A |
5: 129,903,103 (GRCm39) |
T15S |
probably benign |
Het |
Plekhg1 |
T |
A |
10: 3,914,076 (GRCm39) |
L1120* |
probably null |
Het |
Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
Rnf112 |
T |
A |
11: 61,343,181 (GRCm39) |
R165W |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,293,401 (GRCm39) |
T51A |
probably benign |
Het |
Rnf220 |
A |
G |
4: 117,130,481 (GRCm39) |
L293P |
probably damaging |
Het |
Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,414,851 (GRCm39) |
V2087A |
probably benign |
Het |
Rpl7a |
A |
G |
2: 26,801,563 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
Skor1 |
T |
G |
9: 63,053,133 (GRCm39) |
T279P |
probably damaging |
Het |
Son |
A |
T |
16: 91,456,221 (GRCm39) |
E1656V |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
Treh |
T |
C |
9: 44,594,910 (GRCm39) |
V262A |
probably benign |
Het |
Trpm4 |
A |
G |
7: 44,954,370 (GRCm39) |
|
probably null |
Het |
Ugt8a |
T |
C |
3: 125,708,739 (GRCm39) |
I124V |
probably benign |
Het |
Wdr53 |
T |
C |
16: 32,075,473 (GRCm39) |
V226A |
probably damaging |
Het |
Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
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 |
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 |
R3976:Fbxw16
|
UTSW |
9 |
109,268,697 (GRCm39) |
missense |
probably benign |
0.42 |
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'- GTGACCATGTCACAGTAGAGCCATC -3'
(R):5'- AGAATGGAACAGGCTGCACTTTGG -3'
Sequencing Primer
(F):5'- ACTTCCTGCAATGCAGAGTTG -3'
(R):5'- ACAGGCTGCACTTTGGAGATATG -3'
|
Posted On |
2014-06-13 |