Incidental Mutation 'R5192:Fbxw19'
| ID |
405096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw19
|
| Ensembl Gene |
ENSMUSG00000074061 |
| Gene Name |
F-box and WD-40 domain protein 19 |
| Synonyms |
|
| MMRRC Submission |
042768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R5192 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109307575-109324931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109313496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 234
(Y234C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076617]
|
| AlphaFold |
Q8C2W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076617
AA Change: Y234C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000075918
Gene: ENSMUSG00000074061
AA Change: Y234C
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
1.8e-6 |
SMART |
|
SCOP:d1gxra_
|
87 |
284 |
3e-5 |
SMART |
|
Blast:WD40
|
137 |
176 |
8e-8 |
BLAST |
|
| Meta Mutation Damage Score |
0.0798 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
| Babam1 |
T |
C |
8: 71,856,897 (GRCm39) |
V286A |
probably damaging |
Het |
| Becn2 |
A |
G |
1: 175,748,408 (GRCm39) |
D158G |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,968,075 (GRCm39) |
I853T |
probably benign |
Het |
| Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,925,185 (GRCm39) |
T3883A |
possibly damaging |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
| Gm9988 |
T |
C |
8: 88,865,001 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,922,259 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,675,894 (GRCm39) |
K214N |
probably benign |
Het |
| Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
| Klrh1 |
T |
C |
6: 129,748,721 (GRCm39) |
T99A |
probably benign |
Het |
| Marchf10 |
T |
C |
11: 105,262,752 (GRCm39) |
H735R |
possibly damaging |
Het |
| Myo1g |
T |
C |
11: 6,464,816 (GRCm39) |
D486G |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,400,101 (GRCm39) |
Y259H |
possibly damaging |
Het |
| Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
| Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,029,207 (GRCm39) |
Y536H |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Tmtc2 |
G |
A |
10: 105,026,038 (GRCm39) |
P810L |
probably damaging |
Het |
| Tollip |
C |
T |
7: 141,445,854 (GRCm39) |
R9H |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,077,363 (GRCm39) |
S268T |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,120,497 (GRCm39) |
V472A |
possibly damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,569 (GRCm39) |
K790N |
probably damaging |
Het |
| Zfp661 |
A |
G |
2: 127,418,982 (GRCm39) |
V386A |
possibly damaging |
Het |
|
| Other mutations in Fbxw19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01094:Fbxw19
|
APN |
9 |
109,322,614 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01878:Fbxw19
|
APN |
9 |
109,312,347 (GRCm39) |
splice site |
probably benign |
|
|
IGL02622:Fbxw19
|
APN |
9 |
109,322,602 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02752:Fbxw19
|
APN |
9 |
109,323,709 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02795:Fbxw19
|
APN |
9 |
109,324,886 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03401:Fbxw19
|
APN |
9 |
109,324,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0402:Fbxw19
|
UTSW |
9 |
109,313,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0423:Fbxw19
|
UTSW |
9 |
109,315,134 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0466:Fbxw19
|
UTSW |
9 |
109,307,717 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0513:Fbxw19
|
UTSW |
9 |
109,310,621 (GRCm39) |
splice site |
probably null |
|
|
R1538:Fbxw19
|
UTSW |
9 |
109,324,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Fbxw19
|
UTSW |
9 |
109,323,840 (GRCm39) |
nonsense |
probably null |
|
|
R1869:Fbxw19
|
UTSW |
9 |
109,311,100 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1933:Fbxw19
|
UTSW |
9 |
109,310,718 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1960:Fbxw19
|
UTSW |
9 |
109,315,004 (GRCm39) |
missense |
probably benign |
|
|
R2288:Fbxw19
|
UTSW |
9 |
109,322,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2877:Fbxw19
|
UTSW |
9 |
109,315,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Fbxw19
|
UTSW |
9 |
109,315,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4778:Fbxw19
|
UTSW |
9 |
109,323,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Fbxw19
|
UTSW |
9 |
109,313,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5533:Fbxw19
|
UTSW |
9 |
109,315,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6107:Fbxw19
|
UTSW |
9 |
109,324,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Fbxw19
|
UTSW |
9 |
109,323,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6820:Fbxw19
|
UTSW |
9 |
109,311,079 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7631:Fbxw19
|
UTSW |
9 |
109,311,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7651:Fbxw19
|
UTSW |
9 |
109,323,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Fbxw19
|
UTSW |
9 |
109,313,482 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8678:Fbxw19
|
UTSW |
9 |
109,312,376 (GRCm39) |
nonsense |
probably null |
|
|
R9121:Fbxw19
|
UTSW |
9 |
109,324,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:Fbxw19
|
UTSW |
9 |
109,310,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9324:Fbxw19
|
UTSW |
9 |
109,313,440 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9393:Fbxw19
|
UTSW |
9 |
109,324,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Fbxw19
|
UTSW |
9 |
109,315,101 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Fbxw19
|
UTSW |
9 |
109,310,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCCTGACTGTAGGATGGC -3'
(R):5'- CCTCATTACTGGACTTGGAGACAC -3'
Sequencing Primer
(F):5'- CCTGACTGTAGGATGGCTTTTC -3'
(R):5'- TTACTGGACTTGGAGACACAGTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation