Incidental Mutation 'R1276:Fbxw15'
| ID |
150895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw15
|
| Ensembl Gene |
ENSMUSG00000074060 |
| Gene Name |
F-box and WD-40 domain protein 15 |
| Synonyms |
Fbxo12J |
| MMRRC Submission |
039342-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1276 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109381670-109397330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 109387314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 227
(S227F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056745]
[ENSMUST00000198112]
[ENSMUST00000198397]
|
| AlphaFold |
L7N1X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056745
AA Change: S227F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058175
Gene: ENSMUSG00000074060
AA Change: S227F
| 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 |
possibly damaging
Transcript: ENSMUST00000198112
AA Change: S174F
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142894
Gene: ENSMUSG00000074060
AA Change: S174F
| 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 |
0.6079 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
C |
A |
8: 27,609,852 (GRCm39) |
A660D |
probably damaging |
Het |
| Ccdc82 |
A |
T |
9: 13,281,903 (GRCm39) |
I443F |
probably benign |
Het |
| Cct4 |
C |
T |
11: 22,952,171 (GRCm39) |
L391F |
probably damaging |
Het |
| Cep63 |
A |
T |
9: 102,466,099 (GRCm39) |
D642E |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,191 (GRCm39) |
L1424Q |
probably damaging |
Het |
| Cox4i1 |
A |
G |
8: 121,400,089 (GRCm39) |
Y71C |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,864,668 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Egln2 |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
7: 26,864,430 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,113,791 (GRCm39) |
D175G |
probably damaging |
Het |
| Gm9847 |
A |
G |
12: 14,544,932 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
A |
T |
1: 93,348,823 (GRCm39) |
S576T |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,298,576 (GRCm39) |
N296S |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,833 (GRCm39) |
V2379E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,588 (GRCm39) |
I162N |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,486,362 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,822 (GRCm39) |
D632G |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,057,726 (GRCm39) |
M209V |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,787 (GRCm39) |
E308G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,624,996 (GRCm39) |
T131M |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,685,025 (GRCm39) |
S156T |
probably benign |
Het |
| Svs5 |
T |
A |
2: 164,079,168 (GRCm39) |
Q246H |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,987,963 (GRCm39) |
|
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,043,476 (GRCm39) |
H532Q |
possibly damaging |
Het |
| Tcf21 |
G |
A |
10: 22,695,489 (GRCm39) |
T105I |
probably damaging |
Het |
| Thsd7a |
C |
A |
6: 12,418,369 (GRCm39) |
C620F |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,031 (GRCm39) |
Y216C |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,344 (GRCm39) |
S356G |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,522 (GRCm39) |
I437N |
unknown |
Het |
| Wdr24 |
A |
G |
17: 26,046,441 (GRCm39) |
Y538C |
probably benign |
Het |
| Zbtb4 |
G |
T |
11: 69,667,045 (GRCm39) |
D117Y |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,605,699 (GRCm39) |
F293L |
probably damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,788 (GRCm39) |
E158G |
probably damaging |
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 |
|
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 |
|
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'- GCCACATTTCAAGGACGCTTCAC -3'
(R):5'- GTTACCAACTGAGTCATCACCCCAG -3'
Sequencing Primer
(F):5'- GTCAGGTGACTGCTACCAAG -3'
(R):5'- ACTCTGTGAAGCAGGCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation