Incidental Mutation 'R5669:Fbxw21'
ID |
442519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw21
|
Ensembl Gene |
ENSMUSG00000047237 |
Gene Name |
F-box and WD-40 domain protein 21 |
Synonyms |
E330009P21Rik |
MMRRC Submission |
043312-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R5669 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
108968522-108991090 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108974578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 314
(I314N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054925]
[ENSMUST00000198076]
[ENSMUST00000199540]
|
AlphaFold |
Q8BI38 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054925
AA Change: I314N
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000056358 Gene: ENSMUSG00000047237 AA Change: I314N
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
1.46e-6 |
SMART |
SCOP:d1tbga_
|
119 |
249 |
1e-7 |
SMART |
Blast:WD40
|
137 |
176 |
1e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197401
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198076
AA Change: I314N
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143095 Gene: ENSMUSG00000047237 AA Change: I314N
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
1.46e-6 |
SMART |
SCOP:d1tbga_
|
119 |
249 |
9e-8 |
SMART |
Blast:WD40
|
137 |
176 |
1e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199540
|
SMART Domains |
Protein: ENSMUSP00000143200 Gene: ENSMUSG00000047237
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
9e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Akap9 |
T |
A |
5: 4,100,540 (GRCm39) |
L2734* |
probably null |
Het |
Aldh1a1 |
T |
C |
19: 20,588,284 (GRCm39) |
I25T |
probably damaging |
Het |
Astl |
G |
T |
2: 127,189,199 (GRCm39) |
R175L |
probably damaging |
Het |
BC035947 |
A |
T |
1: 78,474,550 (GRCm39) |
C661S |
probably damaging |
Het |
Cd160 |
C |
T |
3: 96,716,214 (GRCm39) |
|
probably benign |
Het |
Cdc42bpb |
C |
T |
12: 111,268,447 (GRCm39) |
|
probably null |
Het |
Cdip1 |
T |
A |
16: 4,586,679 (GRCm39) |
I149F |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,964,127 (GRCm39) |
Y607C |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,803,197 (GRCm39) |
I1256T |
unknown |
Het |
Copb1 |
A |
G |
7: 113,836,820 (GRCm39) |
V336A |
probably damaging |
Het |
Ddx42 |
A |
T |
11: 106,132,645 (GRCm39) |
D556V |
probably damaging |
Het |
Dlk1 |
T |
C |
12: 109,425,964 (GRCm39) |
V279A |
probably benign |
Het |
Fbll1 |
T |
C |
11: 35,688,411 (GRCm39) |
N284S |
probably benign |
Het |
Foxa3 |
T |
C |
7: 18,748,176 (GRCm39) |
T317A |
probably benign |
Het |
Gpr37 |
A |
T |
6: 25,669,351 (GRCm39) |
C498S |
probably benign |
Het |
Hapln3 |
G |
T |
7: 78,767,244 (GRCm39) |
|
probably null |
Het |
Igkv4-54 |
A |
G |
6: 69,608,832 (GRCm39) |
V29A |
possibly damaging |
Het |
Itgb8 |
T |
A |
12: 119,154,363 (GRCm39) |
I225F |
probably damaging |
Het |
Kcnk3 |
A |
G |
5: 30,779,693 (GRCm39) |
T248A |
probably damaging |
Het |
Kcnv1 |
T |
C |
15: 44,977,648 (GRCm39) |
Q130R |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,001,050 (GRCm39) |
H2058R |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,370,018 (GRCm39) |
E1581V |
probably damaging |
Het |
Mga |
A |
G |
2: 119,733,907 (GRCm39) |
N252D |
probably damaging |
Het |
Nadsyn1 |
C |
T |
7: 143,361,168 (GRCm39) |
G335S |
probably damaging |
Het |
Or10ag53 |
T |
C |
2: 87,082,785 (GRCm39) |
V168A |
probably benign |
Het |
Or7e165 |
T |
C |
9: 19,695,053 (GRCm39) |
F208S |
probably benign |
Het |
Pak5 |
G |
A |
2: 135,958,204 (GRCm39) |
P295S |
probably damaging |
Het |
Pcsk1 |
T |
A |
13: 75,278,221 (GRCm39) |
S595T |
probably benign |
Het |
Pepd |
T |
C |
7: 34,740,099 (GRCm39) |
V324A |
probably benign |
Het |
Pml |
C |
T |
9: 58,154,346 (GRCm39) |
D176N |
probably benign |
Het |
Popdc3 |
T |
A |
10: 45,192,529 (GRCm39) |
I163N |
probably damaging |
Het |
Ppp1r13l |
A |
C |
7: 19,106,947 (GRCm39) |
T481P |
probably benign |
Het |
Pramel13 |
T |
C |
4: 144,122,413 (GRCm39) |
I44V |
probably benign |
Het |
Prlh |
A |
G |
1: 90,880,842 (GRCm39) |
T5A |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,170,285 (GRCm39) |
F638S |
possibly damaging |
Het |
Prpf8 |
T |
A |
11: 75,395,564 (GRCm39) |
L1897H |
probably damaging |
Het |
Ret |
T |
C |
6: 118,161,204 (GRCm39) |
T91A |
probably benign |
Het |
Retsat |
A |
G |
6: 72,582,993 (GRCm39) |
S176G |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,349,611 (GRCm39) |
L3823P |
possibly damaging |
Het |
Rnf31 |
C |
T |
14: 55,834,161 (GRCm39) |
A653V |
probably damaging |
Het |
Rps6kl1 |
T |
C |
12: 85,194,641 (GRCm39) |
D90G |
probably damaging |
Het |
Scarb1 |
A |
G |
5: 125,377,451 (GRCm39) |
Y194H |
probably damaging |
Het |
Scube2 |
C |
T |
7: 109,424,646 (GRCm39) |
A556T |
probably benign |
Het |
Serpinb1a |
A |
G |
13: 33,029,299 (GRCm39) |
L243P |
probably damaging |
Het |
Slc39a4 |
A |
C |
15: 76,498,363 (GRCm39) |
L358R |
probably damaging |
Het |
Slitrk5 |
A |
G |
14: 111,919,055 (GRCm39) |
D893G |
probably damaging |
Het |
Srgap1 |
C |
A |
10: 121,640,755 (GRCm39) |
V681L |
probably benign |
Het |
Tmprss6 |
A |
T |
15: 78,339,156 (GRCm39) |
M262K |
possibly damaging |
Het |
Ttf2 |
T |
A |
3: 100,858,433 (GRCm39) |
K719* |
probably null |
Het |
Vmn1r62 |
T |
A |
7: 5,678,736 (GRCm39) |
L139* |
probably null |
Het |
Zfp1004 |
A |
G |
2: 150,034,098 (GRCm39) |
I140V |
probably benign |
Het |
|
Other mutations in Fbxw21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00679:Fbxw21
|
APN |
9 |
108,991,032 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00901:Fbxw21
|
APN |
9 |
108,985,467 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01377:Fbxw21
|
APN |
9 |
108,975,713 (GRCm39) |
nonsense |
probably null |
|
IGL01941:Fbxw21
|
APN |
9 |
108,977,224 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02491:Fbxw21
|
APN |
9 |
108,972,887 (GRCm39) |
missense |
probably benign |
|
IGL03163:Fbxw21
|
APN |
9 |
108,974,552 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03377:Fbxw21
|
APN |
9 |
108,968,597 (GRCm39) |
missense |
probably benign |
0.01 |
R0148:Fbxw21
|
UTSW |
9 |
108,977,085 (GRCm39) |
critical splice donor site |
probably null |
|
R0328:Fbxw21
|
UTSW |
9 |
108,975,653 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0909:Fbxw21
|
UTSW |
9 |
108,985,476 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1506:Fbxw21
|
UTSW |
9 |
108,977,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R1575:Fbxw21
|
UTSW |
9 |
108,990,984 (GRCm39) |
missense |
probably benign |
0.00 |
R1615:Fbxw21
|
UTSW |
9 |
108,972,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R1719:Fbxw21
|
UTSW |
9 |
108,977,242 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2415:Fbxw21
|
UTSW |
9 |
108,985,469 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2424:Fbxw21
|
UTSW |
9 |
108,986,587 (GRCm39) |
nonsense |
probably null |
|
R2508:Fbxw21
|
UTSW |
9 |
108,974,553 (GRCm39) |
missense |
probably benign |
0.31 |
R2898:Fbxw21
|
UTSW |
9 |
108,985,404 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2964:Fbxw21
|
UTSW |
9 |
108,974,578 (GRCm39) |
missense |
probably benign |
0.10 |
R2965:Fbxw21
|
UTSW |
9 |
108,974,578 (GRCm39) |
missense |
probably benign |
0.10 |
R2966:Fbxw21
|
UTSW |
9 |
108,974,578 (GRCm39) |
missense |
probably benign |
0.10 |
R4809:Fbxw21
|
UTSW |
9 |
108,972,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R4911:Fbxw21
|
UTSW |
9 |
108,974,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R5928:Fbxw21
|
UTSW |
9 |
108,972,893 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6043:Fbxw21
|
UTSW |
9 |
108,974,607 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6277:Fbxw21
|
UTSW |
9 |
108,974,623 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6805:Fbxw21
|
UTSW |
9 |
108,986,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Fbxw21
|
UTSW |
9 |
108,986,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R7079:Fbxw21
|
UTSW |
9 |
108,974,578 (GRCm39) |
missense |
probably benign |
0.10 |
R7081:Fbxw21
|
UTSW |
9 |
108,990,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R7744:Fbxw21
|
UTSW |
9 |
108,986,720 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7774:Fbxw21
|
UTSW |
9 |
108,972,908 (GRCm39) |
missense |
probably benign |
0.00 |
R7980:Fbxw21
|
UTSW |
9 |
108,985,639 (GRCm39) |
splice site |
probably null |
|
R8043:Fbxw21
|
UTSW |
9 |
108,975,694 (GRCm39) |
missense |
probably benign |
0.01 |
R8260:Fbxw21
|
UTSW |
9 |
108,975,614 (GRCm39) |
critical splice donor site |
probably null |
|
R9142:Fbxw21
|
UTSW |
9 |
108,985,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R9172:Fbxw21
|
UTSW |
9 |
108,975,764 (GRCm39) |
missense |
probably benign |
0.00 |
R9250:Fbxw21
|
UTSW |
9 |
108,972,846 (GRCm39) |
missense |
probably benign |
0.31 |
R9251:Fbxw21
|
UTSW |
9 |
108,974,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:Fbxw21
|
UTSW |
9 |
108,972,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9303:Fbxw21
|
UTSW |
9 |
108,986,727 (GRCm39) |
missense |
probably benign |
|
R9479:Fbxw21
|
UTSW |
9 |
108,968,612 (GRCm39) |
missense |
probably benign |
0.00 |
R9509:Fbxw21
|
UTSW |
9 |
108,977,217 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9765:Fbxw21
|
UTSW |
9 |
108,975,625 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9773:Fbxw21
|
UTSW |
9 |
108,977,128 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9774:Fbxw21
|
UTSW |
9 |
108,991,057 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
Z1088:Fbxw21
|
UTSW |
9 |
108,974,605 (GRCm39) |
missense |
probably benign |
|
Z1176:Fbxw21
|
UTSW |
9 |
108,974,605 (GRCm39) |
missense |
probably benign |
|
Z1177:Fbxw21
|
UTSW |
9 |
108,974,605 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGCGTGGGTGTATGCAC -3'
(R):5'- CTCTCTGCAGGTGTTTTACATG -3'
Sequencing Primer
(F):5'- GTGCACATGCTAAACCATCTTCTCAG -3'
(R):5'- CAGGTGTTTTACATGAGCAGCTTAC -3'
|
Posted On |
2016-11-09 |