Incidental Mutation 'R2415:Fbxw21'
| ID |
248972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw21
|
| Ensembl Gene |
ENSMUSG00000047237 |
| Gene Name |
F-box and WD-40 domain protein 21 |
| Synonyms |
E330009P21Rik |
| MMRRC Submission |
040379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R2415 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108968522-108991090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108985469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 103
(A103E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054925]
[ENSMUST00000198076]
[ENSMUST00000199540]
|
| AlphaFold |
Q8BI38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054925
AA Change: A103E
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000056358
Gene: ENSMUSG00000047237
AA Change: A103E
| 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 |
possibly damaging
Transcript: ENSMUST00000198076
AA Change: A103E
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143095
Gene: ENSMUSG00000047237
AA Change: A103E
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano6 |
A |
T |
15: 95,860,161 (GRCm39) |
N761I |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,985,077 (GRCm39) |
S55P |
probably damaging |
Het |
| Cul9 |
T |
A |
17: 46,854,364 (GRCm39) |
T113S |
probably benign |
Het |
| Ddx56 |
G |
A |
11: 6,211,727 (GRCm39) |
|
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,186 (GRCm39) |
V467A |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,770,124 (GRCm39) |
F62I |
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,347,175 (GRCm39) |
M567K |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,929,932 (GRCm38) |
S2021T |
probably benign |
Het |
| Gabpa |
T |
C |
16: 84,641,256 (GRCm39) |
|
probably null |
Het |
| Grid1 |
A |
T |
14: 35,172,326 (GRCm39) |
I611F |
possibly damaging |
Het |
| Hdac1 |
A |
C |
4: 129,416,754 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,191,880 (GRCm39) |
E427G |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,400,906 (GRCm39) |
T685S |
probably benign |
Het |
| Khdc1b |
A |
G |
1: 21,454,534 (GRCm39) |
D79G |
probably benign |
Het |
| Ky |
G |
T |
9: 102,419,090 (GRCm39) |
G366W |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,131,977 (GRCm39) |
S147P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,305,411 (GRCm39) |
K405E |
probably damaging |
Het |
| Myo15b |
T |
G |
11: 115,770,390 (GRCm39) |
F67V |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,047 (GRCm39) |
D316G |
probably damaging |
Het |
| Nudt12 |
A |
G |
17: 59,313,603 (GRCm39) |
V325A |
probably damaging |
Het |
| Pdia4 |
G |
T |
6: 47,783,490 (GRCm39) |
D184E |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,097,147 (GRCm39) |
F793V |
possibly damaging |
Het |
| Pla1a |
T |
A |
16: 38,228,112 (GRCm39) |
Y255F |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,570,626 (GRCm39) |
S269P |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,075,614 (GRCm39) |
V118D |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,789,729 (GRCm39) |
I764N |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
| Surf6 |
C |
T |
2: 26,782,274 (GRCm39) |
R351H |
probably damaging |
Het |
| Tspan15 |
A |
G |
10: 62,037,570 (GRCm39) |
I115T |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,431 (GRCm39) |
Y179C |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,403,305 (GRCm39) |
D481G |
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 |
|
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 |
|
R5669:Fbxw21
|
UTSW |
9 |
108,974,578 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- CCCTGCACAGATGGCTTAG -3'
(R):5'- GAGTAAATGCACCTGAACAAATGC -3'
Sequencing Primer
(F):5'- ATCTATATGGGGACTTCCAGGAC -3'
(R):5'- AAATGCCCAGCCTGCAGTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation