Incidental Mutation 'R2965:Fbxw21'
ID |
256025 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw21
|
Ensembl Gene |
ENSMUSG00000047237 |
Gene Name |
F-box and WD-40 domain protein 21 |
Synonyms |
E330009P21Rik |
MMRRC Submission |
040521-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R2965 (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 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
Add1 |
C |
A |
5: 34,788,058 (GRCm39) |
D702E |
probably benign |
Het |
Aff3 |
A |
G |
1: 38,248,791 (GRCm39) |
I772T |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,714,979 (GRCm39) |
I382V |
probably benign |
Het |
Anks1 |
A |
G |
17: 28,272,879 (GRCm39) |
T925A |
probably benign |
Het |
Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,805,049 (GRCm39) |
D1022G |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,836,798 (GRCm39) |
K2256E |
probably benign |
Het |
Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,892,264 (GRCm39) |
|
probably null |
Het |
Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
Col2a1 |
A |
G |
15: 97,873,976 (GRCm39) |
I1402T |
unknown |
Het |
Col4a3 |
T |
C |
1: 82,626,321 (GRCm39) |
L86P |
unknown |
Het |
Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
Ddx43 |
C |
A |
9: 78,313,661 (GRCm39) |
Y197* |
probably null |
Het |
Dnah7b |
T |
A |
1: 46,246,732 (GRCm39) |
I1636N |
probably damaging |
Het |
Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
Dyrk2 |
T |
A |
10: 118,696,242 (GRCm39) |
K339* |
probably null |
Het |
Fam187b |
A |
C |
7: 30,677,154 (GRCm39) |
D221A |
probably benign |
Het |
Fgd6 |
T |
A |
10: 93,880,056 (GRCm39) |
F303L |
probably benign |
Het |
Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
Gm10784 |
A |
T |
13: 50,099,233 (GRCm39) |
|
noncoding transcript |
Het |
Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
Gria1 |
C |
T |
11: 57,076,627 (GRCm39) |
Q8* |
probably null |
Het |
H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,750,697 (GRCm39) |
D1796E |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
Klhl2 |
C |
T |
8: 65,205,794 (GRCm39) |
V376M |
probably benign |
Het |
Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
Mgam |
T |
C |
6: 40,745,154 (GRCm39) |
V1807A |
possibly damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,534,794 (GRCm39) |
V304A |
probably benign |
Het |
Nek10 |
T |
C |
14: 14,836,202 (GRCm38) |
L141P |
probably damaging |
Het |
Noa1 |
T |
C |
5: 77,454,191 (GRCm39) |
E483G |
possibly damaging |
Het |
Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,824,236 (GRCm39) |
S1110C |
probably damaging |
Het |
Potefam1 |
A |
T |
2: 111,034,364 (GRCm39) |
S359T |
possibly damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,579,080 (GRCm39) |
S873P |
probably damaging |
Het |
Prss35 |
A |
G |
9: 86,637,635 (GRCm39) |
D135G |
probably damaging |
Het |
Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
Rab21 |
T |
C |
10: 115,130,814 (GRCm39) |
N164S |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
Ssrp1 |
A |
G |
2: 84,871,930 (GRCm39) |
T385A |
possibly damaging |
Het |
Tcf15 |
T |
C |
2: 151,985,871 (GRCm39) |
I109T |
probably damaging |
Het |
Tcp11 |
C |
A |
17: 28,288,239 (GRCm39) |
D330Y |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,964,715 (GRCm39) |
V91E |
probably benign |
Het |
Usp48 |
G |
A |
4: 137,341,073 (GRCm39) |
V358M |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,996,609 (GRCm39) |
I303T |
probably damaging |
Het |
Zfp229 |
T |
G |
17: 21,965,010 (GRCm39) |
H413Q |
probably damaging |
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 |
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'- GTGCACATGCTAAACCATCTTC -3'
(R):5'- CAGGCTGCAGAGATTCACTC -3'
Sequencing Primer
(F):5'- CATGCTAAACCATCTTCTCAGC -3'
(R):5'- CCTGGACAATTCTCTCTGCAGG -3'
|
Posted On |
2014-12-29 |