Incidental Mutation 'R6002:Fbxw22'
ID |
478431 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw22
|
Ensembl Gene |
ENSMUSG00000070324 |
Gene Name |
F-box and WD-40 domain protein 22 |
Synonyms |
Gm5164 |
MMRRC Submission |
044181-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R6002 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
109207468-109233362 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to C
at 109210750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 420
(Y420*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080626]
[ENSMUST00000197213]
|
AlphaFold |
Q5XG67 |
Predicted Effect |
probably null
Transcript: ENSMUST00000080626
AA Change: Y420*
|
SMART Domains |
Protein: ENSMUSP00000079460 Gene: ENSMUSG00000070324 AA Change: Y420*
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: 99.8%
- 3x: 99.4%
- 10x: 96.6%
- 20x: 88.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
A |
2: 68,492,768 (GRCm39) |
|
probably null |
Het |
Adam28 |
A |
G |
14: 68,879,511 (GRCm39) |
L179P |
probably benign |
Het |
Amer2 |
G |
T |
14: 60,616,231 (GRCm39) |
G142V |
possibly damaging |
Het |
Ap2a1 |
A |
G |
7: 44,553,819 (GRCm39) |
|
probably null |
Het |
Arhgap32 |
A |
G |
9: 32,168,275 (GRCm39) |
T753A |
probably benign |
Het |
Capsl |
A |
G |
15: 9,461,874 (GRCm39) |
D90G |
probably damaging |
Het |
Cd96 |
A |
T |
16: 45,938,349 (GRCm39) |
S39T |
possibly damaging |
Het |
Cdx2 |
T |
A |
5: 147,240,044 (GRCm39) |
T211S |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,705,515 (GRCm39) |
Y251C |
probably damaging |
Het |
Chrna6 |
C |
T |
8: 27,896,774 (GRCm39) |
V368I |
probably benign |
Het |
Coro1a |
G |
T |
7: 126,302,252 (GRCm39) |
Q32K |
probably benign |
Het |
Cps1 |
T |
A |
1: 67,211,914 (GRCm39) |
V694E |
possibly damaging |
Het |
Eif3h |
A |
G |
15: 51,662,672 (GRCm39) |
Y125H |
probably benign |
Het |
Fgf21 |
T |
C |
7: 45,264,651 (GRCm39) |
Y27C |
probably benign |
Het |
Gm7356 |
A |
G |
17: 14,221,001 (GRCm39) |
S343P |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,310,321 (GRCm39) |
D3305G |
probably damaging |
Het |
Ift70a1 |
T |
C |
2: 75,811,121 (GRCm39) |
T321A |
possibly damaging |
Het |
Kdm4c |
T |
A |
4: 74,323,206 (GRCm39) |
F1046Y |
possibly damaging |
Het |
Klk1b27 |
T |
A |
7: 43,705,114 (GRCm39) |
W94R |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,962,143 (GRCm39) |
M576L |
probably benign |
Het |
Or13c7d |
T |
C |
4: 43,770,063 (GRCm39) |
H316R |
probably benign |
Het |
Or4d2 |
A |
T |
11: 87,784,633 (GRCm39) |
V39E |
probably damaging |
Het |
Or5b122 |
T |
C |
19: 13,562,781 (GRCm39) |
|
probably benign |
Het |
Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,215,645 (GRCm39) |
V1184D |
probably damaging |
Het |
Pcyox1 |
T |
A |
6: 86,369,164 (GRCm39) |
M152L |
probably benign |
Het |
Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
Pi4k2b |
A |
T |
5: 52,914,247 (GRCm39) |
I328L |
probably benign |
Het |
Ppp1r13l |
T |
C |
7: 19,111,895 (GRCm39) |
F814L |
probably benign |
Het |
Prag1 |
A |
T |
8: 36,571,337 (GRCm39) |
H640L |
probably benign |
Het |
Prl5a1 |
T |
C |
13: 28,329,465 (GRCm39) |
I48T |
probably benign |
Het |
Rabgap1 |
A |
G |
2: 37,363,614 (GRCm39) |
T132A |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,524,203 (GRCm39) |
I146V |
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,499,460 (GRCm39) |
Y306C |
probably damaging |
Het |
Stat3 |
A |
G |
11: 100,794,569 (GRCm39) |
S247P |
probably benign |
Het |
Tbc1d1 |
C |
A |
5: 64,490,776 (GRCm39) |
L747I |
probably damaging |
Het |
Tbc1d24 |
A |
T |
17: 24,402,761 (GRCm39) |
M1K |
probably null |
Het |
Vezt |
A |
C |
10: 93,836,336 (GRCm39) |
V104G |
probably damaging |
Het |
Zbtb41 |
A |
G |
1: 139,351,397 (GRCm39) |
D170G |
probably damaging |
Het |
Zswim2 |
C |
A |
2: 83,746,032 (GRCm39) |
D469Y |
probably damaging |
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 |
|
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 |
|
R8499:Fbxw22
|
UTSW |
9 |
109,214,068 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GCTTTCAATACATTTGTGTGAAGG -3'
(R):5'- ATTTCAGTACTGCCCAGAAGAG -3'
Sequencing Primer
(F):5'- AGTTATAGACAGTGTGAGCTGCC -3'
(R):5'- TGAGCACTTGCAGAGTTCAC -3'
|
Posted On |
2017-06-26 |