Incidental Mutation 'IGL01941:Fbxw21'
ID |
181138 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxw21
|
Ensembl Gene |
ENSMUSG00000047237 |
Gene Name |
F-box and WD-40 domain protein 21 |
Synonyms |
E330009P21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL01941
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
108968522-108991090 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 108977224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 162
(I162L)
|
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: I162L
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000056358 Gene: ENSMUSG00000047237 AA Change: I162L
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: I162L
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143095 Gene: ENSMUSG00000047237 AA Change: I162L
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030624G23Rik |
A |
T |
12: 24,094,802 (GRCm39) |
L123Q |
probably benign |
Het |
Abca2 |
C |
T |
2: 25,333,107 (GRCm39) |
S1602F |
probably benign |
Het |
Abcc9 |
C |
A |
6: 142,551,630 (GRCm39) |
C1191F |
probably damaging |
Het |
Adam3 |
G |
T |
8: 25,171,462 (GRCm39) |
|
probably benign |
Het |
Aldh1l1 |
G |
T |
6: 90,539,677 (GRCm39) |
G202V |
probably damaging |
Het |
Ankrd46 |
T |
C |
15: 36,486,083 (GRCm39) |
N57D |
possibly damaging |
Het |
Asic1 |
A |
T |
15: 99,596,982 (GRCm39) |
H548L |
possibly damaging |
Het |
Atpaf2 |
A |
G |
11: 60,294,724 (GRCm39) |
I233T |
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,575,769 (GRCm39) |
Q307K |
probably benign |
Het |
Cep120 |
T |
C |
18: 53,856,220 (GRCm39) |
D399G |
probably benign |
Het |
Cnn2 |
G |
A |
10: 79,828,388 (GRCm39) |
V122M |
probably benign |
Het |
Dgkd |
T |
C |
1: 87,852,281 (GRCm39) |
S472P |
probably damaging |
Het |
Dock5 |
A |
C |
14: 68,049,681 (GRCm39) |
I701S |
probably damaging |
Het |
Efl1 |
A |
G |
7: 82,347,184 (GRCm39) |
E570G |
probably benign |
Het |
Eln |
G |
A |
5: 134,747,024 (GRCm39) |
|
probably benign |
Het |
Fat2 |
A |
G |
11: 55,202,831 (GRCm39) |
V81A |
probably benign |
Het |
Fhl2 |
G |
A |
1: 43,170,832 (GRCm39) |
Q161* |
probably null |
Het |
Gabrg2 |
A |
G |
11: 41,862,548 (GRCm39) |
Y179H |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Grik5 |
A |
T |
7: 24,764,607 (GRCm39) |
I152N |
probably damaging |
Het |
H2-Ab1 |
A |
T |
17: 34,486,408 (GRCm39) |
K156* |
probably null |
Het |
Hecw1 |
T |
C |
13: 14,490,895 (GRCm39) |
Y699C |
probably benign |
Het |
Ipo9 |
A |
C |
1: 135,335,811 (GRCm39) |
V202G |
possibly damaging |
Het |
Itprid1 |
A |
G |
6: 55,945,030 (GRCm39) |
R584G |
probably benign |
Het |
Jmjd6 |
A |
T |
11: 116,732,184 (GRCm39) |
|
probably null |
Het |
Lama5 |
A |
G |
2: 179,834,185 (GRCm39) |
I1416T |
possibly damaging |
Het |
Matn1 |
T |
C |
4: 130,679,572 (GRCm39) |
|
probably benign |
Het |
Mavs |
T |
C |
2: 131,088,525 (GRCm39) |
V443A |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,204,624 (GRCm39) |
S1798R |
possibly damaging |
Het |
Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
Or4a78 |
A |
T |
2: 89,497,812 (GRCm39) |
C139* |
probably null |
Het |
Otud7b |
G |
T |
3: 96,062,776 (GRCm39) |
G672C |
probably benign |
Het |
Palld |
T |
A |
8: 61,988,734 (GRCm39) |
T572S |
probably benign |
Het |
Pde6b |
T |
A |
5: 108,570,902 (GRCm39) |
V379E |
probably benign |
Het |
Peak1 |
A |
G |
9: 56,166,059 (GRCm39) |
V623A |
probably damaging |
Het |
Prr12 |
C |
T |
7: 44,698,083 (GRCm39) |
|
probably benign |
Het |
Rxra |
T |
C |
2: 27,644,253 (GRCm39) |
I315T |
probably damaging |
Het |
Slc11a1 |
C |
T |
1: 74,416,338 (GRCm39) |
A55V |
probably damaging |
Het |
Slitrk3 |
T |
C |
3: 72,958,404 (GRCm39) |
N123D |
possibly damaging |
Het |
Smr2l |
A |
G |
5: 88,430,301 (GRCm39) |
S66G |
probably benign |
Het |
Spcs1 |
A |
G |
14: 30,722,829 (GRCm39) |
M82T |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,472,116 (GRCm39) |
E113G |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,013,994 (GRCm39) |
K3062E |
probably benign |
Het |
Traf3ip2 |
T |
C |
10: 39,510,656 (GRCm39) |
S310P |
probably benign |
Het |
Ubp1 |
T |
C |
9: 113,785,826 (GRCm39) |
L167S |
probably damaging |
Het |
Vmn1r196 |
T |
A |
13: 22,477,869 (GRCm39) |
C169* |
probably null |
Het |
Vmn1r223 |
T |
A |
13: 23,434,407 (GRCm39) |
F334I |
possibly damaging |
Het |
Vmn2r10 |
A |
T |
5: 109,143,820 (GRCm39) |
I710N |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wdr26 |
A |
G |
1: 181,038,635 (GRCm39) |
|
probably benign |
Het |
Wnt7a |
A |
G |
6: 91,371,645 (GRCm39) |
F106L |
probably benign |
Het |
Zfp940 |
C |
T |
7: 29,546,295 (GRCm39) |
V34M |
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 |
|
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 |
|
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 |
|
|
Posted On |
2014-05-07 |