Incidental Mutation 'R8043:Fbxw21'
| ID |
618634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw21
|
| Ensembl Gene |
ENSMUSG00000047237 |
| Gene Name |
F-box and WD-40 domain protein 21 |
| Synonyms |
E330009P21Rik |
| MMRRC Submission |
067480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8043 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108968522-108991090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108975694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 234
(Y234C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054925]
[ENSMUST00000198076]
[ENSMUST00000199540]
|
| AlphaFold |
Q8BI38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054925
AA Change: Y234C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000056358
Gene: ENSMUSG00000047237
AA Change: Y234C
| 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 |
probably benign
Transcript: ENSMUST00000198076
AA Change: Y234C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000143095
Gene: ENSMUSG00000047237
AA Change: Y234C
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,211,665 (GRCm39) |
Y628C |
probably damaging |
Het |
| Alpk2 |
C |
T |
18: 65,482,901 (GRCm39) |
C369Y |
probably damaging |
Het |
| Atl1 |
T |
C |
12: 70,005,989 (GRCm39) |
Y432H |
probably damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,355,663 (GRCm39) |
V215M |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,596,808 (GRCm39) |
M516I |
probably damaging |
Het |
| Cep83 |
A |
C |
10: 94,573,804 (GRCm39) |
N231T |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,234,054 (GRCm39) |
G338D |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,576,219 (GRCm39) |
V2047E |
probably damaging |
Het |
| Coro1c |
C |
T |
5: 114,003,820 (GRCm39) |
|
silent |
Het |
| Cplx4 |
A |
T |
18: 66,090,190 (GRCm39) |
|
probably null |
Het |
| Csf1r |
G |
C |
18: 61,257,947 (GRCm39) |
G639R |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,381,513 (GRCm39) |
V446A |
probably benign |
Het |
| Esam |
T |
C |
9: 37,448,317 (GRCm39) |
V252A |
probably damaging |
Het |
| F13b |
T |
G |
1: 139,450,186 (GRCm39) |
M616R |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,293,818 (GRCm39) |
E287K |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,891,050 (GRCm39) |
S63P |
probably benign |
Het |
| Glra1 |
G |
A |
11: 55,424,688 (GRCm39) |
P174L |
probably damaging |
Het |
| Golga7 |
A |
T |
8: 23,746,731 (GRCm39) |
C24S |
possibly damaging |
Het |
| Gpr3 |
G |
A |
4: 132,938,271 (GRCm39) |
R134C |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,761,790 (GRCm39) |
E530G |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,444 (GRCm39) |
R116C |
probably damaging |
Het |
| Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 21,549,644 (GRCm39) |
Q361L |
probably damaging |
Het |
| Lrrc40 |
T |
C |
3: 157,769,397 (GRCm39) |
S532P |
possibly damaging |
Het |
| Mob3a |
A |
T |
10: 80,525,846 (GRCm39) |
I155N |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,881 (GRCm39) |
L107Q |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,730,513 (GRCm39) |
V148I |
probably benign |
Het |
| Nrp1 |
G |
T |
8: 129,158,504 (GRCm39) |
V264L |
probably benign |
Het |
| Oas1a |
T |
C |
5: 121,035,080 (GRCm39) |
E360G |
probably benign |
Het |
| Or4k15c |
A |
T |
14: 50,321,367 (GRCm39) |
I257N |
possibly damaging |
Het |
| Or52e8 |
A |
T |
7: 104,625,080 (GRCm39) |
Y41* |
probably null |
Het |
| Or5b96 |
A |
C |
19: 12,867,095 (GRCm39) |
V282G |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,072,579 (GRCm39) |
D70G |
probably benign |
Het |
| Pcsk2 |
A |
T |
2: 143,655,450 (GRCm39) |
K545* |
probably null |
Het |
| Phf11b |
T |
C |
14: 59,568,722 (GRCm39) |
S64G |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pygo2 |
T |
C |
3: 89,340,235 (GRCm39) |
L211P |
possibly damaging |
Het |
| Rbbp6 |
C |
T |
7: 122,584,468 (GRCm39) |
T161I |
probably damaging |
Het |
| Rcsd1 |
A |
T |
1: 165,482,911 (GRCm39) |
I390N |
probably benign |
Het |
| Rpl21 |
T |
C |
5: 146,772,702 (GRCm39) |
V141A |
probably benign |
Het |
| Rufy3 |
C |
A |
5: 88,790,851 (GRCm39) |
D517E |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,606,009 (GRCm39) |
L2417Q |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,705,422 (GRCm39) |
E831K |
probably damaging |
Het |
| Sipa1l1 |
A |
C |
12: 82,496,700 (GRCm39) |
Q1744P |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,458,240 (GRCm39) |
|
probably null |
Het |
| Slain1 |
C |
A |
14: 103,925,782 (GRCm39) |
Q377K |
possibly damaging |
Het |
| Slc30a6 |
T |
G |
17: 74,730,018 (GRCm39) |
S303A |
probably damaging |
Het |
| Sorcs3 |
T |
A |
19: 48,752,734 (GRCm39) |
L843Q |
possibly damaging |
Het |
| Usp45 |
G |
A |
4: 21,824,543 (GRCm39) |
A432T |
probably benign |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,218 (GRCm39) |
S46T |
possibly damaging |
Het |
| Ybx3 |
T |
C |
6: 131,361,469 (GRCm39) |
N100S |
probably benign |
Het |
| Zfp747 |
A |
G |
7: 126,973,225 (GRCm39) |
L315P |
probably benign |
Het |
| Zfp750 |
T |
C |
11: 121,402,706 (GRCm39) |
T681A |
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 |
|
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 |
|
|
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'- GTCACATGACTGCTTCCAACAC -3'
(R):5'- TCCTAGACTTGAAGACACAGTG -3'
Sequencing Primer
(F):5'- TTCTTAAGATAGGGCTTACGAGAG -3'
(R):5'- CACAGTGGTGTATCTCAGAGTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation