Incidental Mutation 'R7079:Fbxw21'
ID |
549421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw21
|
Ensembl Gene |
ENSMUSG00000047237 |
Gene Name |
F-box and WD-40 domain protein 21 |
Synonyms |
E330009P21Rik |
MMRRC Submission |
045173-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R7079 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108968522-108991090 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108974578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 314
(I314T)
|
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: I314T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000056358 Gene: ENSMUSG00000047237 AA Change: I314T
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: I314T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143095 Gene: ENSMUSG00000047237 AA Change: I314T
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 |
0.1002 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,402,323 (GRCm39) |
L405S |
possibly damaging |
Het |
2310009B15Rik |
T |
A |
1: 138,779,865 (GRCm39) |
Q129L |
possibly damaging |
Het |
4921509C19Rik |
T |
G |
2: 151,315,198 (GRCm39) |
D160A |
probably damaging |
Het |
Aspn |
A |
G |
13: 49,720,031 (GRCm39) |
Y349C |
probably damaging |
Het |
Atp2b1 |
A |
G |
10: 98,854,595 (GRCm39) |
T1063A |
probably benign |
Het |
BC035947 |
T |
C |
1: 78,474,552 (GRCm39) |
E660G |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,323,408 (GRCm39) |
L970P |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,717,858 (GRCm39) |
I215T |
probably benign |
Het |
Cort |
C |
G |
4: 149,211,848 (GRCm39) |
G85R |
probably benign |
Het |
Cyp1a2 |
T |
C |
9: 57,589,161 (GRCm39) |
I218V |
probably benign |
Het |
Egfem1 |
T |
A |
3: 29,207,731 (GRCm39) |
H140Q |
probably benign |
Het |
Elapor2 |
A |
G |
5: 9,449,253 (GRCm39) |
Y127C |
probably damaging |
Het |
Fbln5 |
G |
A |
12: 101,723,667 (GRCm39) |
P345S |
probably damaging |
Het |
Gfpt2 |
G |
A |
11: 49,728,578 (GRCm39) |
V679I |
possibly damaging |
Het |
Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
Grm1 |
T |
C |
10: 10,955,702 (GRCm39) |
D194G |
probably damaging |
Het |
Hectd1 |
G |
A |
12: 51,834,638 (GRCm39) |
T875M |
possibly damaging |
Het |
Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
Hhat |
T |
C |
1: 192,235,354 (GRCm39) |
H434R |
possibly damaging |
Het |
Itpripl2 |
A |
G |
7: 118,090,092 (GRCm39) |
F156L |
possibly damaging |
Het |
Kctd11 |
A |
G |
11: 69,770,847 (GRCm39) |
Y64H |
probably damaging |
Het |
Lmln |
T |
C |
16: 32,887,661 (GRCm39) |
L97P |
probably benign |
Het |
Lrrc30 |
T |
C |
17: 67,939,016 (GRCm39) |
D188G |
possibly damaging |
Het |
Mmd |
T |
A |
11: 90,158,325 (GRCm39) |
|
probably null |
Het |
Nav3 |
G |
A |
10: 109,603,153 (GRCm39) |
S1132L |
probably benign |
Het |
Or1l4 |
C |
A |
2: 37,092,185 (GRCm39) |
H311N |
probably benign |
Het |
Or4c101 |
C |
A |
2: 88,389,853 (GRCm39) |
N2K |
probably damaging |
Het |
Or52ab7 |
C |
T |
7: 102,978,391 (GRCm39) |
R233C |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,152,957 (GRCm39) |
T421A |
probably benign |
Het |
Pfkm |
G |
A |
15: 97,992,963 (GRCm39) |
R7H |
probably benign |
Het |
Psme2b |
A |
G |
11: 48,836,443 (GRCm39) |
F168S |
probably damaging |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,649,752 (GRCm39) |
V385A |
probably benign |
Het |
Reep5 |
G |
A |
18: 34,480,176 (GRCm39) |
T189I |
probably damaging |
Het |
Sacm1l |
T |
A |
9: 123,399,062 (GRCm39) |
Y272N |
probably damaging |
Het |
Slc26a6 |
T |
A |
9: 108,735,147 (GRCm39) |
H348Q |
probably damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
Spata31f1a |
T |
C |
4: 42,851,718 (GRCm39) |
E146G |
probably benign |
Het |
Stkld1 |
A |
G |
2: 26,839,359 (GRCm39) |
I342V |
probably benign |
Het |
Trim23 |
A |
T |
13: 104,323,801 (GRCm39) |
|
probably null |
Het |
Trmt13 |
T |
C |
3: 116,376,480 (GRCm39) |
T304A |
probably benign |
Het |
Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
Ubqln3 |
A |
T |
7: 103,790,578 (GRCm39) |
I504K |
probably benign |
Het |
Uhrf2 |
T |
G |
19: 30,060,190 (GRCm39) |
N519K |
probably null |
Het |
Wdr93 |
T |
C |
7: 79,399,040 (GRCm39) |
M58T |
probably damaging |
Het |
Wwc2 |
G |
A |
8: 48,300,580 (GRCm39) |
T961M |
unknown |
Het |
Zfp35 |
C |
T |
18: 24,136,357 (GRCm39) |
H234Y |
possibly damaging |
Het |
Zscan21 |
C |
T |
5: 138,124,728 (GRCm39) |
P215S |
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 |
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'- ATGTGCACATGCTAAACCATC -3'
(R):5'- CAGGCTGCAGAGATTCACTC -3'
Sequencing Primer
(F):5'- GTGCACATGCTAAACCATCTTCTCAG -3'
(R):5'- CCTGGACAATTCTCTCTGCAGG -3'
|
Posted On |
2019-05-15 |