Incidental Mutation 'R8499:Fbxw22'
| ID |
658426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw22
|
| Ensembl Gene |
ENSMUSG00000070324 |
| Gene Name |
F-box and WD-40 domain protein 22 |
| Synonyms |
Gm5164 |
| MMRRC Submission |
067941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R8499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109207468-109233362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109214068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 249
(F249L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080626]
[ENSMUST00000197213]
|
| AlphaFold |
Q5XG67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080626
AA Change: F249L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000079460
Gene: ENSMUSG00000070324
AA Change: F249L
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
1.02e-5 |
SMART |
|
SCOP:d1gxra_
|
128 |
220 |
1e-5 |
SMART |
|
Blast:WD40
|
137 |
176 |
6e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197213
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,189 (GRCm39) |
D485G |
probably damaging |
Het |
| Ap4b1 |
G |
A |
3: 103,728,018 (GRCm39) |
R344Q |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,410,280 (GRCm39) |
P222Q |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,869,796 (GRCm39) |
L272P |
probably damaging |
Het |
| Atp11b |
G |
T |
3: 35,864,854 (GRCm39) |
R559I |
probably benign |
Het |
| Bhmt |
T |
A |
13: 93,756,600 (GRCm39) |
I343F |
probably benign |
Het |
| Btbd7 |
A |
T |
12: 102,754,631 (GRCm39) |
F712I |
probably damaging |
Het |
| Card14 |
T |
C |
11: 119,222,070 (GRCm39) |
L455P |
probably benign |
Het |
| Cast |
A |
T |
13: 74,946,835 (GRCm39) |
H26Q |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,284,133 (GRCm39) |
N567S |
probably damaging |
Het |
| Cnot6l |
A |
T |
5: 96,225,176 (GRCm39) |
W506R |
probably damaging |
Het |
| Dynap |
T |
A |
18: 70,374,044 (GRCm39) |
I161L |
unknown |
Het |
| Eif4g3 |
A |
C |
4: 137,893,239 (GRCm39) |
T996P |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,623,849 (GRCm39) |
Y173H |
probably benign |
Het |
| Fbll1 |
C |
T |
11: 35,688,907 (GRCm39) |
V119M |
probably damaging |
Het |
| Fxyd1 |
C |
A |
7: 30,752,529 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
A |
4: 135,276,549 (GRCm39) |
|
probably null |
Het |
| Grk4 |
A |
G |
5: 34,902,690 (GRCm39) |
E414G |
possibly damaging |
Het |
| H2bc8 |
T |
A |
13: 23,755,880 (GRCm39) |
S92T |
probably benign |
Het |
| H2-Q5 |
A |
G |
17: 35,613,820 (GRCm39) |
D123G |
|
Het |
| H2-Q5 |
C |
T |
17: 35,613,945 (GRCm39) |
R165* |
probably null |
Het |
| Hgf |
A |
T |
5: 16,771,854 (GRCm39) |
E160D |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,086 (GRCm39) |
I192V |
probably benign |
Het |
| Klk1b22 |
T |
C |
7: 43,762,144 (GRCm39) |
F7L |
probably benign |
Het |
| Lcmt1 |
C |
A |
7: 123,029,371 (GRCm39) |
T331N |
probably benign |
Het |
| Lrrc36 |
A |
T |
8: 106,176,168 (GRCm39) |
T181S |
possibly damaging |
Het |
| Ltbp3 |
T |
A |
19: 5,798,712 (GRCm39) |
S520T |
probably benign |
Het |
| Nacc1 |
A |
T |
8: 85,403,345 (GRCm39) |
C177S |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,342,728 (GRCm39) |
V888E |
probably damaging |
Het |
| Oc90 |
C |
T |
15: 65,753,405 (GRCm39) |
G305S |
probably damaging |
Het |
| Or51a25 |
A |
G |
7: 102,372,932 (GRCm39) |
V255A |
probably damaging |
Het |
| Or52i2 |
T |
A |
7: 102,320,012 (GRCm39) |
I295N |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,764,092 (GRCm39) |
D473V |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,799,623 (GRCm39) |
G117C |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,079,366 (GRCm39) |
H68R |
probably damaging |
Het |
| Pygm |
A |
G |
19: 6,440,392 (GRCm39) |
K479E |
probably damaging |
Het |
| Qpct |
A |
G |
17: 79,384,996 (GRCm39) |
D212G |
probably damaging |
Het |
| Sh3glb2 |
A |
T |
2: 30,249,216 (GRCm39) |
M1K |
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,758,469 (GRCm39) |
S444P |
probably damaging |
Het |
| Snai3 |
G |
A |
8: 123,183,144 (GRCm39) |
H134Y |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,736,044 (GRCm39) |
D395G |
probably damaging |
Het |
| Tmem63c |
C |
T |
12: 87,119,738 (GRCm39) |
T344I |
probably damaging |
Het |
| Tnfsf14 |
A |
G |
17: 57,497,534 (GRCm39) |
Y233H |
|
Het |
| Ttn |
A |
G |
2: 76,749,335 (GRCm39) |
F3905L |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,454,363 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,750 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,700 (GRCm39) |
C707S |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,841,466 (GRCm39) |
S2499P |
probably damaging |
Het |
| Ythdf3 |
A |
G |
3: 16,259,179 (GRCm39) |
E442G |
possibly damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,907 (GRCm39) |
S74P |
probably benign |
Het |
|
| Other mutations in Fbxw22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Fbxw22
|
APN |
9 |
109,213,108 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL00655:Fbxw22
|
APN |
9 |
109,211,312 (GRCm39) |
splice site |
probably benign |
|
|
IGL01122:Fbxw22
|
APN |
9 |
109,215,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01419:Fbxw22
|
APN |
9 |
109,210,790 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01455:Fbxw22
|
APN |
9 |
109,214,062 (GRCm39) |
missense |
probably benign |
|
|
IGL01486:Fbxw22
|
APN |
9 |
109,207,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01734:Fbxw22
|
APN |
9 |
109,212,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02106:Fbxw22
|
APN |
9 |
109,231,087 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02255:Fbxw22
|
APN |
9 |
109,215,619 (GRCm39) |
splice site |
probably benign |
|
|
IGL02466:Fbxw22
|
APN |
9 |
109,214,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Fbxw22
|
APN |
9 |
109,215,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Fbxw22
|
UTSW |
9 |
109,210,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0705:Fbxw22
|
UTSW |
9 |
109,232,164 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0741:Fbxw22
|
UTSW |
9 |
109,211,287 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1603:Fbxw22
|
UTSW |
9 |
109,207,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1673:Fbxw22
|
UTSW |
9 |
109,211,196 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1874:Fbxw22
|
UTSW |
9 |
109,214,179 (GRCm39) |
nonsense |
probably null |
|
|
R2265:Fbxw22
|
UTSW |
9 |
109,213,062 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2269:Fbxw22
|
UTSW |
9 |
109,213,062 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2385:Fbxw22
|
UTSW |
9 |
109,211,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4329:Fbxw22
|
UTSW |
9 |
109,213,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Fbxw22
|
UTSW |
9 |
109,207,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Fbxw22
|
UTSW |
9 |
109,207,937 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4915:Fbxw22
|
UTSW |
9 |
109,213,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Fbxw22
|
UTSW |
9 |
109,232,492 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5070:Fbxw22
|
UTSW |
9 |
109,214,183 (GRCm39) |
missense |
probably benign |
|
|
R5319:Fbxw22
|
UTSW |
9 |
109,213,015 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5571:Fbxw22
|
UTSW |
9 |
109,232,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Fbxw22
|
UTSW |
9 |
109,214,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5846:Fbxw22
|
UTSW |
9 |
109,215,829 (GRCm39) |
missense |
probably benign |
|
|
R6002:Fbxw22
|
UTSW |
9 |
109,210,750 (GRCm39) |
nonsense |
probably null |
|
|
R6180:Fbxw22
|
UTSW |
9 |
109,215,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Fbxw22
|
UTSW |
9 |
109,232,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6860:Fbxw22
|
UTSW |
9 |
109,213,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6949:Fbxw22
|
UTSW |
9 |
109,211,144 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7084:Fbxw22
|
UTSW |
9 |
109,233,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Fbxw22
|
UTSW |
9 |
109,211,143 (GRCm39) |
missense |
probably benign |
|
|
R9088:Fbxw22
|
UTSW |
9 |
109,207,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Fbxw22
|
UTSW |
9 |
109,215,653 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9501:Fbxw22
|
UTSW |
9 |
109,207,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9600:Fbxw22
|
UTSW |
9 |
109,212,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACTGGTCATGTGACTGC -3'
(R):5'- TCAGAGCAGATAACACTTCTTCCTC -3'
Sequencing Primer
(F):5'- GTCATGTGACTGCTATCAAGC -3'
(R):5'- GCAGATAACACTTCTTCCTCCATAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation