Incidental Mutation 'R5198:Fbxw15'
ID |
400493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw15
|
Ensembl Gene |
ENSMUSG00000074060 |
Gene Name |
F-box and WD-40 domain protein 15 |
Synonyms |
Fbxo12J |
MMRRC Submission |
042774-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5198 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
109381670-109397330 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 109387242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 251
(S251I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056745]
[ENSMUST00000198112]
[ENSMUST00000198397]
|
AlphaFold |
L7N1X6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056745
AA Change: S251I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000058175 Gene: ENSMUSG00000074060 AA Change: S251I
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 |
probably benign
Transcript: ENSMUST00000198112
AA Change: S198I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142894 Gene: ENSMUSG00000074060 AA Change: S198I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,571,726 (GRCm39) |
V1121A |
probably benign |
Het |
Adamtsl3 |
A |
C |
7: 82,261,006 (GRCm39) |
K1647Q |
possibly damaging |
Het |
Adgrb1 |
A |
T |
15: 74,415,550 (GRCm39) |
Q710L |
probably null |
Het |
Alox12 |
T |
C |
11: 70,145,243 (GRCm39) |
E110G |
probably damaging |
Het |
Cep152 |
T |
A |
2: 125,429,544 (GRCm39) |
M738L |
probably benign |
Het |
Cma2 |
T |
C |
14: 56,209,532 (GRCm39) |
V38A |
probably benign |
Het |
Dlc1 |
C |
T |
8: 37,405,552 (GRCm39) |
G79D |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dus3l |
A |
G |
17: 57,076,574 (GRCm39) |
I585V |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
Gata4 |
G |
A |
14: 63,437,900 (GRCm39) |
S417L |
probably benign |
Het |
Gdpd5 |
T |
A |
7: 99,087,515 (GRCm39) |
Y60N |
probably damaging |
Het |
Gm17669 |
T |
C |
18: 67,695,626 (GRCm39) |
M57T |
probably benign |
Het |
Gpr39 |
A |
T |
1: 125,605,173 (GRCm39) |
I34F |
probably benign |
Het |
Iffo2 |
T |
A |
4: 139,302,528 (GRCm39) |
D90E |
probably benign |
Het |
Il17c |
A |
G |
8: 123,149,108 (GRCm39) |
D84G |
possibly damaging |
Het |
Itih3 |
T |
C |
14: 30,634,606 (GRCm39) |
T134A |
probably benign |
Het |
Lama2 |
G |
A |
10: 27,222,999 (GRCm39) |
A429V |
probably damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,851,521 (GRCm39) |
R806H |
probably damaging |
Het |
Naaa |
G |
A |
5: 92,415,904 (GRCm39) |
R65* |
probably null |
Het |
Nacc2 |
C |
T |
2: 25,950,346 (GRCm39) |
M463I |
probably benign |
Het |
Nemf |
A |
G |
12: 69,402,821 (GRCm39) |
S72P |
probably damaging |
Het |
Nudt7 |
G |
A |
8: 114,862,185 (GRCm39) |
|
probably null |
Het |
Or4b1b |
T |
C |
2: 90,126,737 (GRCm39) |
Q156R |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,331,936 (GRCm39) |
S4P |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,189,325 (GRCm39) |
D757G |
probably benign |
Het |
Pkd2 |
A |
C |
5: 104,630,958 (GRCm39) |
I461L |
probably benign |
Het |
Potegl |
G |
A |
2: 23,102,473 (GRCm39) |
C121Y |
probably damaging |
Het |
Pramel5 |
T |
G |
4: 144,000,064 (GRCm39) |
|
probably benign |
Het |
Ptgdr |
G |
C |
14: 45,096,300 (GRCm39) |
F137L |
probably damaging |
Het |
Pum1 |
T |
A |
4: 130,507,190 (GRCm39) |
C1085* |
probably null |
Het |
Rfx3 |
T |
C |
19: 27,808,176 (GRCm39) |
D189G |
probably damaging |
Het |
Rlf |
T |
A |
4: 121,005,750 (GRCm39) |
K1077* |
probably null |
Het |
Slc25a30 |
C |
A |
14: 76,007,056 (GRCm39) |
D147Y |
probably benign |
Het |
Smap2 |
T |
C |
4: 120,873,984 (GRCm39) |
E22G |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,245,519 (GRCm39) |
T1098A |
probably benign |
Het |
Tbcc |
T |
C |
17: 47,201,788 (GRCm39) |
F58S |
probably damaging |
Het |
Tekt3 |
G |
A |
11: 62,961,134 (GRCm39) |
R101H |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,838,991 (GRCm39) |
E2184D |
probably damaging |
Het |
Vkorc1 |
T |
C |
7: 127,493,760 (GRCm39) |
E18G |
probably benign |
Het |
Vmn1r68 |
T |
C |
7: 10,261,723 (GRCm39) |
H125R |
probably benign |
Het |
Vmn2r63 |
C |
A |
7: 42,553,169 (GRCm39) |
V696L |
probably benign |
Het |
Wdr59 |
G |
A |
8: 112,208,620 (GRCm39) |
H421Y |
probably benign |
Het |
Xkr7 |
T |
C |
2: 152,896,873 (GRCm39) |
Y576H |
probably damaging |
Het |
Zfp112 |
T |
C |
7: 23,824,281 (GRCm39) |
V83A |
possibly damaging |
Het |
Zfp616 |
G |
A |
11: 73,974,336 (GRCm39) |
V293I |
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 |
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 |
R5899:Fbxw15
|
UTSW |
9 |
109,384,741 (GRCm39) |
splice site |
probably null |
|
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'- TGCCATTGTGACTGGTCAGG -3'
(R):5'- AATAACACTGCTTCCTCCATGC -3'
Sequencing Primer
(F):5'- TGACTGCTACCAAGCACA -3'
(R):5'- ATAACACTGCTTCCTCCATGCTTAAC -3'
|
Posted On |
2016-07-06 |