Incidental Mutation 'R5899:Fbxw15'
ID |
457734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw15
|
Ensembl Gene |
ENSMUSG00000074060 |
Gene Name |
F-box and WD-40 domain protein 15 |
Synonyms |
Fbxo12J |
MMRRC Submission |
044098-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5899 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
109381670-109397330 bp(-) (GRCm39) |
Type of Mutation |
splice site (1486 bp from exon) |
DNA Base Change (assembly) |
T to C
at 109384741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056745]
[ENSMUST00000198112]
[ENSMUST00000198397]
|
AlphaFold |
L7N1X6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056745
AA Change: D353G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000058175 Gene: ENSMUSG00000074060 AA Change: D353G
Domain | Start | End | E-Value | Type |
FBOX
|
8 |
45 |
3.25e-4 |
SMART |
SCOP:d1flga_
|
73 |
413 |
3e-7 |
SMART |
Blast:WD40
|
137 |
176 |
5e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196601
|
Predicted Effect |
probably null
Transcript: ENSMUST00000198112
|
SMART Domains |
Protein: ENSMUSP00000142894 Gene: ENSMUSG00000074060
Domain | Start | End | E-Value | Type |
FBOX
|
8 |
45 |
2.1e-6 |
SMART |
SCOP:d1tbga_
|
73 |
196 |
3e-5 |
SMART |
Blast:WD40
|
84 |
123 |
1e-5 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198397
|
SMART Domains |
Protein: ENSMUSP00000143385 Gene: ENSMUSG00000074060
Domain | Start | End | E-Value | Type |
FBOX
|
8 |
45 |
3.25e-4 |
SMART |
SCOP:d1tbga_
|
116 |
240 |
1e-3 |
SMART |
Blast:WD40
|
137 |
176 |
6e-6 |
BLAST |
|
Meta Mutation Damage Score |
0.3601 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
93% (56/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
C |
10: 20,876,465 (GRCm39) |
I792T |
probably benign |
Het |
Anks1b |
T |
A |
10: 90,759,379 (GRCm39) |
|
probably null |
Het |
Ano3 |
T |
G |
2: 110,693,232 (GRCm39) |
D122A |
probably benign |
Het |
Atp12a |
T |
C |
14: 56,610,801 (GRCm39) |
V315A |
probably benign |
Het |
B230104I21Rik |
G |
T |
4: 154,433,986 (GRCm39) |
G57* |
probably null |
Het |
Bpifb2 |
A |
G |
2: 153,733,050 (GRCm39) |
K378E |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,161,830 (GRCm39) |
|
probably benign |
Het |
Ceacam23 |
A |
G |
7: 17,651,369 (GRCm39) |
D840G |
possibly damaging |
Het |
Cflar |
A |
G |
1: 58,791,927 (GRCm39) |
D410G |
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,102,049 (GRCm39) |
V345A |
probably benign |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Ddx50 |
T |
A |
10: 62,476,596 (GRCm39) |
K226* |
probably null |
Het |
Dnah5 |
T |
C |
15: 28,448,513 (GRCm39) |
V4192A |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 30,875,659 (GRCm39) |
D494N |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,879,660 (GRCm39) |
C965S |
probably benign |
Het |
Dst |
C |
T |
1: 34,334,370 (GRCm39) |
A5083V |
probably damaging |
Het |
E130208F15Rik |
T |
C |
7: 30,021,726 (GRCm39) |
Q10R |
probably damaging |
Het |
Fxr2 |
A |
G |
11: 69,543,511 (GRCm39) |
N671D |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,252,303 (GRCm39) |
T629A |
probably benign |
Het |
Grm1 |
T |
C |
10: 10,565,092 (GRCm39) |
Y1072C |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,244,685 (GRCm39) |
E714V |
possibly damaging |
Het |
Hsd17b13 |
T |
A |
5: 104,113,730 (GRCm39) |
E205D |
probably benign |
Het |
Igf2bp3 |
A |
G |
6: 49,094,084 (GRCm39) |
|
probably benign |
Het |
Il2ra |
A |
G |
2: 11,689,248 (GRCm39) |
H259R |
probably benign |
Het |
Klk15 |
G |
T |
7: 43,588,247 (GRCm39) |
R185L |
probably benign |
Het |
Map3k11 |
T |
G |
19: 5,745,937 (GRCm39) |
|
probably null |
Het |
Morn3 |
A |
G |
5: 123,179,166 (GRCm39) |
W95R |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,364,328 (GRCm39) |
|
probably null |
Het |
Nrap |
A |
T |
19: 56,329,006 (GRCm39) |
V1145D |
possibly damaging |
Het |
Or1e35 |
A |
G |
11: 73,797,755 (GRCm39) |
S188P |
probably damaging |
Het |
Or2l13b |
C |
T |
16: 19,349,551 (GRCm39) |
G40R |
probably damaging |
Het |
Or9k2 |
T |
A |
10: 129,998,542 (GRCm39) |
I218F |
probably benign |
Het |
Pdcd11 |
A |
G |
19: 47,093,198 (GRCm39) |
N492S |
possibly damaging |
Het |
Ptgfr |
C |
T |
3: 151,540,738 (GRCm39) |
V257I |
probably damaging |
Het |
Racgap1 |
T |
C |
15: 99,521,509 (GRCm39) |
E549G |
possibly damaging |
Het |
Rfx3 |
T |
C |
19: 27,808,165 (GRCm39) |
T193A |
probably damaging |
Het |
Rplp0 |
T |
A |
5: 115,699,489 (GRCm39) |
I149N |
probably benign |
Het |
Samd7 |
T |
G |
3: 30,810,883 (GRCm39) |
I300S |
probably benign |
Het |
Scpep1 |
A |
G |
11: 88,825,402 (GRCm39) |
|
probably null |
Het |
Senp6 |
T |
C |
9: 80,049,352 (GRCm39) |
|
probably benign |
Het |
Serpinb2 |
G |
T |
1: 107,447,446 (GRCm39) |
G78V |
probably damaging |
Het |
Sesn1 |
T |
C |
10: 41,687,189 (GRCm39) |
S58P |
probably benign |
Het |
Skic3 |
A |
G |
13: 76,259,938 (GRCm39) |
|
probably null |
Het |
Spg11 |
T |
C |
2: 121,928,680 (GRCm39) |
D591G |
possibly damaging |
Het |
Spire2 |
A |
C |
8: 124,080,833 (GRCm39) |
S26R |
probably damaging |
Het |
Strip2 |
T |
A |
6: 29,956,957 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,697,519 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,460,924 (GRCm39) |
Y750C |
probably damaging |
Het |
Wnt11 |
T |
A |
7: 98,488,383 (GRCm39) |
Y23* |
probably null |
Het |
Zbp1 |
T |
A |
2: 173,052,340 (GRCm39) |
D272V |
probably benign |
Het |
|
Other mutations in Fbxw15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02094:Fbxw15
|
APN |
9 |
109,387,308 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02239:Fbxw15
|
APN |
9 |
109,388,905 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02343:Fbxw15
|
APN |
9 |
109,381,723 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02748:Fbxw15
|
APN |
9 |
109,387,278 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03206:Fbxw15
|
APN |
9 |
109,394,430 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03370:Fbxw15
|
APN |
9 |
109,384,219 (GRCm39) |
missense |
probably benign |
0.00 |
lagging
|
UTSW |
9 |
109,384,741 (GRCm39) |
splice site |
probably null |
|
R0321:Fbxw15
|
UTSW |
9 |
109,394,453 (GRCm39) |
missense |
probably benign |
0.03 |
R0742:Fbxw15
|
UTSW |
9 |
109,384,624 (GRCm39) |
splice site |
probably null |
|
R1141:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1143:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1276:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1282:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1283:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1321:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1324:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1341:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1716:Fbxw15
|
UTSW |
9 |
109,386,204 (GRCm39) |
missense |
probably benign |
0.00 |
R1750:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1757:Fbxw15
|
UTSW |
9 |
109,386,347 (GRCm39) |
missense |
probably damaging |
0.99 |
R1765:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1799:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1826:Fbxw15
|
UTSW |
9 |
109,388,782 (GRCm39) |
splice site |
probably null |
|
R1897:Fbxw15
|
UTSW |
9 |
109,387,271 (GRCm39) |
nonsense |
probably null |
|
R2237:Fbxw15
|
UTSW |
9 |
109,384,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R2346:Fbxw15
|
UTSW |
9 |
109,394,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R4391:Fbxw15
|
UTSW |
9 |
109,397,300 (GRCm39) |
start gained |
probably benign |
|
R4392:Fbxw15
|
UTSW |
9 |
109,397,300 (GRCm39) |
start gained |
probably benign |
|
R4812:Fbxw15
|
UTSW |
9 |
109,388,990 (GRCm39) |
missense |
probably benign |
0.01 |
R5198:Fbxw15
|
UTSW |
9 |
109,387,242 (GRCm39) |
missense |
probably benign |
0.00 |
R5278:Fbxw15
|
UTSW |
9 |
109,384,752 (GRCm39) |
missense |
probably benign |
0.03 |
R5541:Fbxw15
|
UTSW |
9 |
109,394,498 (GRCm39) |
missense |
probably benign |
0.23 |
R5975:Fbxw15
|
UTSW |
9 |
109,384,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R6065:Fbxw15
|
UTSW |
9 |
109,397,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R6285:Fbxw15
|
UTSW |
9 |
109,386,234 (GRCm39) |
missense |
probably benign |
0.09 |
R7357:Fbxw15
|
UTSW |
9 |
109,387,308 (GRCm39) |
missense |
probably benign |
0.28 |
R7781:Fbxw15
|
UTSW |
9 |
109,386,330 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8145:Fbxw15
|
UTSW |
9 |
109,384,658 (GRCm39) |
missense |
probably benign |
0.01 |
R8182:Fbxw15
|
UTSW |
9 |
109,384,778 (GRCm39) |
missense |
probably benign |
0.00 |
R8272:Fbxw15
|
UTSW |
9 |
109,388,828 (GRCm39) |
missense |
probably benign |
0.18 |
R8713:Fbxw15
|
UTSW |
9 |
109,384,667 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9069:Fbxw15
|
UTSW |
9 |
109,394,468 (GRCm39) |
nonsense |
probably null |
|
R9496:Fbxw15
|
UTSW |
9 |
109,397,291 (GRCm39) |
missense |
probably benign |
0.01 |
X0026:Fbxw15
|
UTSW |
9 |
109,387,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCACACCCCAACAGTATG -3'
(R):5'- ACCAATGGACTGTTTTCATTGTCTC -3'
Sequencing Primer
(F):5'- CATTTCTGGGCAGTACTG -3'
(R):5'- CTCTTTCAGACTAGCATGACAAGG -3'
|
Posted On |
2017-02-15 |