Incidental Mutation 'R2427:Fbxw25'
| ID |
250282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw25
|
| Ensembl Gene |
ENSMUSG00000094992 |
| Gene Name |
F-box and WD-40 domain protein 25 |
| Synonyms |
E330001B16Rik |
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109474190-109493720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109481928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 253
(N253D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163839]
|
| AlphaFold |
F7C9P2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163839
AA Change: N253D
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128652
Gene: ENSMUSG00000094992
AA Change: N253D
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
5.44e-6 |
SMART |
|
SCOP:d1gxra_
|
119 |
228 |
1e-6 |
SMART |
|
Blast:WD40
|
137 |
176 |
6e-6 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably damaging |
Het |
|
| Other mutations in Fbxw25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03330:Fbxw25
|
APN |
9 |
109,474,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
doughnuts
|
UTSW |
9 |
109,479,132 (GRCm39) |
missense |
|
|
|
goodtimes
|
UTSW |
9 |
109,492,442 (GRCm39) |
critical splice donor site |
probably null |
|
|
shakeys
|
UTSW |
9 |
109,483,651 (GRCm39) |
missense |
|
|
|
R0158:Fbxw25
|
UTSW |
9 |
109,483,720 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0850:Fbxw25
|
UTSW |
9 |
109,478,685 (GRCm39) |
missense |
probably benign |
|
|
R1109:Fbxw25
|
UTSW |
9 |
109,479,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1386:Fbxw25
|
UTSW |
9 |
109,483,709 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1609:Fbxw25
|
UTSW |
9 |
109,492,578 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1750:Fbxw25
|
UTSW |
9 |
109,479,141 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1977:Fbxw25
|
UTSW |
9 |
109,481,924 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3841:Fbxw25
|
UTSW |
9 |
109,491,202 (GRCm39) |
nonsense |
probably null |
|
|
R4356:Fbxw25
|
UTSW |
9 |
109,491,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Fbxw25
|
UTSW |
9 |
109,480,705 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5024:Fbxw25
|
UTSW |
9 |
109,492,442 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5175:Fbxw25
|
UTSW |
9 |
109,493,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Fbxw25
|
UTSW |
9 |
109,492,573 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5389:Fbxw25
|
UTSW |
9 |
109,481,954 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5493:Fbxw25
|
UTSW |
9 |
109,481,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6268:Fbxw25
|
UTSW |
9 |
109,483,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6739:Fbxw25
|
UTSW |
9 |
109,480,699 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7275:Fbxw25
|
UTSW |
9 |
109,483,660 (GRCm39) |
missense |
|
|
|
R7492:Fbxw25
|
UTSW |
9 |
109,493,598 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7623:Fbxw25
|
UTSW |
9 |
109,483,651 (GRCm39) |
missense |
|
|
|
R7784:Fbxw25
|
UTSW |
9 |
109,479,187 (GRCm39) |
missense |
|
|
|
R7861:Fbxw25
|
UTSW |
9 |
109,493,625 (GRCm39) |
nonsense |
probably null |
|
|
R7887:Fbxw25
|
UTSW |
9 |
109,478,662 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8973:Fbxw25
|
UTSW |
9 |
109,479,132 (GRCm39) |
missense |
|
|
|
R9517:Fbxw25
|
UTSW |
9 |
109,480,892 (GRCm39) |
missense |
|
|
|
R9563:Fbxw25
|
UTSW |
9 |
109,483,676 (GRCm39) |
missense |
|
|
|
R9565:Fbxw25
|
UTSW |
9 |
109,483,676 (GRCm39) |
missense |
|
|
|
X0023:Fbxw25
|
UTSW |
9 |
109,480,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Fbxw25
|
UTSW |
9 |
109,480,806 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACATGACTGCTACCAAGTAC -3'
(R):5'- GGTGAATCTCAGAGCAGATCAC -3'
Sequencing Primer
(F):5'- CATGACTGCTACCAAGTACAGTATTC -3'
(R):5'- AGATCACACTGCTTCCTCCATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation