Incidental Mutation 'R5077:Fbxw16'
ID |
401942 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw16
|
Ensembl Gene |
ENSMUSG00000074062 |
Gene Name |
F-box and WD-40 domain protein 16 |
Synonyms |
7420402K12Rik |
MMRRC Submission |
042666-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R5077 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
109261386-109278208 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 109270117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084984]
|
AlphaFold |
Q497Z0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084984
|
SMART Domains |
Protein: ENSMUSP00000082051 Gene: ENSMUSG00000074062
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 |
0.9483 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
93% (51/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
A |
G |
8: 44,080,200 (GRCm39) |
V8A |
possibly damaging |
Het |
Agbl4 |
A |
T |
4: 111,423,939 (GRCm39) |
M322L |
probably benign |
Het |
Ankrd55 |
A |
G |
13: 112,492,522 (GRCm39) |
K231R |
probably benign |
Het |
Asap1 |
A |
C |
15: 63,999,272 (GRCm39) |
M534R |
probably damaging |
Het |
B4galnt2 |
T |
A |
11: 95,767,140 (GRCm39) |
|
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,437,475 (GRCm39) |
|
probably null |
Het |
Cacna1h |
T |
C |
17: 25,594,224 (GRCm39) |
I2311M |
probably benign |
Het |
Capn2 |
G |
T |
1: 182,300,138 (GRCm39) |
D617E |
possibly damaging |
Het |
Catsper1 |
A |
G |
19: 5,385,998 (GRCm39) |
D77G |
probably damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,922,098 (GRCm39) |
|
probably benign |
Het |
Cdca8 |
T |
C |
4: 124,820,470 (GRCm39) |
K109E |
probably damaging |
Het |
Dbx1 |
A |
G |
7: 49,283,242 (GRCm39) |
S223P |
probably damaging |
Het |
Dlg4 |
A |
G |
11: 69,917,852 (GRCm39) |
N45S |
possibly damaging |
Het |
Dlgap2 |
T |
G |
8: 14,872,691 (GRCm39) |
V723G |
probably benign |
Het |
Efl1 |
C |
A |
7: 82,307,295 (GRCm39) |
Q64K |
probably damaging |
Het |
Eml1 |
T |
A |
12: 108,472,871 (GRCm39) |
|
probably benign |
Het |
Gm10800 |
A |
T |
2: 98,497,379 (GRCm39) |
L80M |
probably benign |
Het |
H4c16 |
A |
G |
6: 136,781,113 (GRCm39) |
Y89H |
probably benign |
Het |
Insig2 |
A |
T |
1: 121,239,964 (GRCm39) |
V112E |
probably damaging |
Het |
Kcnip3 |
A |
G |
2: 127,307,797 (GRCm39) |
S123P |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,780,851 (GRCm39) |
|
probably null |
Het |
Myo16 |
T |
C |
8: 10,372,658 (GRCm39) |
V119A |
probably damaging |
Het |
Naa25 |
G |
A |
5: 121,562,639 (GRCm39) |
V474M |
probably benign |
Het |
Nckap1 |
A |
T |
2: 80,379,277 (GRCm39) |
V219E |
probably damaging |
Het |
Niban1 |
A |
G |
1: 151,590,274 (GRCm39) |
I523V |
probably benign |
Het |
Nrp1 |
G |
T |
8: 129,227,154 (GRCm39) |
|
probably null |
Het |
Nsun4 |
A |
T |
4: 115,905,781 (GRCm39) |
D58E |
probably benign |
Het |
Obscn |
G |
T |
11: 58,934,883 (GRCm39) |
A5249D |
probably damaging |
Het |
Or8k53 |
A |
T |
2: 86,177,683 (GRCm39) |
H142Q |
probably benign |
Het |
Osmr |
A |
T |
15: 6,873,874 (GRCm39) |
Y174* |
probably null |
Het |
Pi4k2a |
T |
C |
19: 42,108,275 (GRCm39) |
|
probably null |
Het |
Pram1 |
C |
T |
17: 33,863,878 (GRCm39) |
Q572* |
probably null |
Het |
Prdm5 |
C |
A |
6: 65,756,158 (GRCm39) |
T25K |
probably damaging |
Het |
Psen1 |
T |
C |
12: 83,771,439 (GRCm39) |
Y240H |
probably damaging |
Het |
Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
Rbck1 |
A |
C |
2: 152,160,371 (GRCm39) |
M436R |
probably benign |
Het |
Resf1 |
T |
G |
6: 149,227,528 (GRCm39) |
S191R |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,377,488 (GRCm39) |
N64D |
possibly damaging |
Het |
Rsph4a |
A |
G |
10: 33,784,275 (GRCm39) |
D299G |
probably damaging |
Het |
Sema4c |
T |
C |
1: 36,590,812 (GRCm39) |
S480G |
probably benign |
Het |
Srp68 |
T |
C |
11: 116,136,638 (GRCm39) |
D552G |
probably damaging |
Het |
Syde2 |
G |
T |
3: 145,707,764 (GRCm39) |
A568S |
probably damaging |
Het |
Szrd1 |
G |
T |
4: 140,867,092 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
T |
4: 118,226,813 (GRCm39) |
|
probably null |
Het |
Tbc1d31 |
A |
G |
15: 57,818,797 (GRCm39) |
E800G |
probably benign |
Het |
Tmprss11d |
C |
A |
5: 86,457,122 (GRCm39) |
|
probably null |
Het |
Usp37 |
A |
G |
1: 74,480,720 (GRCm39) |
V895A |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,382,026 (GRCm39) |
I193T |
probably benign |
Het |
Vmn2r102 |
T |
C |
17: 19,897,834 (GRCm39) |
V283A |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,814,811 (GRCm39) |
G3180D |
probably damaging |
Het |
Xirp2 |
A |
C |
2: 67,344,821 (GRCm39) |
D2354A |
probably benign |
Het |
Zc3h14 |
T |
A |
12: 98,723,465 (GRCm39) |
|
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 |
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 |
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 |
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'- GTGTCAAAGGCTAAGTTATGGTC -3'
(R):5'- TGATGCTCTTGTTCTCCAGG -3'
Sequencing Primer
(F):5'- AAGGCTAAGTTATGGTCATGTTTATG -3'
(R):5'- GCCCAGTACAGGAATCCTATATTG -3'
|
Posted On |
2016-07-22 |