Incidental Mutation 'R1506:Fbxw21'
| ID |
167939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw21
|
| Ensembl Gene |
ENSMUSG00000047237 |
| Gene Name |
F-box and WD-40 domain protein 21 |
| Synonyms |
E330009P21Rik |
| MMRRC Submission |
039554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108968522-108991090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108977257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 151
(I151F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054925]
[ENSMUST00000198076]
[ENSMUST00000199540]
|
| AlphaFold |
Q8BI38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054925
AA Change: I151F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056358
Gene: ENSMUSG00000047237
AA Change: I151F
| 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 damaging
Transcript: ENSMUST00000198076
AA Change: I151F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143095
Gene: ENSMUSG00000047237
AA Change: I151F
| 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 |
possibly damaging
Transcript: ENSMUST00000199540
AA Change: Y111F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143200
Gene: ENSMUSG00000047237
AA Change: Y111F
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
9e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
G |
T |
11: 94,248,144 (GRCm39) |
T1152K |
possibly damaging |
Het |
| Acp3 |
T |
A |
9: 104,201,373 (GRCm39) |
T82S |
probably damaging |
Het |
| Adam23 |
C |
T |
1: 63,586,973 (GRCm39) |
P445S |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,582,651 (GRCm39) |
|
probably benign |
Het |
| Artn |
A |
G |
4: 117,784,058 (GRCm39) |
V136A |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,965,806 (GRCm39) |
T2403A |
probably damaging |
Het |
| Bbof1 |
G |
T |
12: 84,470,273 (GRCm39) |
V120L |
probably damaging |
Het |
| Boc |
A |
G |
16: 44,323,928 (GRCm39) |
Y158H |
probably damaging |
Het |
| Casp8 |
A |
G |
1: 58,863,355 (GRCm39) |
E105G |
probably damaging |
Het |
| Cers4 |
T |
C |
8: 4,570,557 (GRCm39) |
F206L |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,126,479 (GRCm39) |
T78A |
probably benign |
Het |
| Creb3 |
A |
T |
4: 43,566,193 (GRCm39) |
T263S |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,766,443 (GRCm39) |
V384A |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,080,994 (GRCm39) |
V879M |
probably damaging |
Het |
| Dnah17 |
C |
A |
11: 118,016,213 (GRCm39) |
V14F |
possibly damaging |
Het |
| Epb41l4b |
T |
A |
4: 57,088,824 (GRCm39) |
K144N |
probably damaging |
Het |
| Ercc6 |
A |
T |
14: 32,291,821 (GRCm39) |
I1062F |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,175,090 (GRCm39) |
E1874D |
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,357,007 (GRCm39) |
I33V |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,256,761 (GRCm39) |
|
probably benign |
Het |
| Gpr63 |
G |
A |
4: 25,008,227 (GRCm39) |
R317H |
probably damaging |
Het |
| Grip1 |
C |
A |
10: 119,814,356 (GRCm39) |
H296N |
probably damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,465,506 (GRCm39) |
M288K |
possibly damaging |
Het |
| Guf1 |
T |
A |
5: 69,724,509 (GRCm39) |
D488E |
possibly damaging |
Het |
| Gvin3 |
C |
T |
7: 106,200,788 (GRCm39) |
D819N |
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,060,576 (GRCm39) |
R2033L |
probably damaging |
Het |
| Hsd17b2 |
T |
A |
8: 118,429,004 (GRCm39) |
|
probably null |
Het |
| Ino80 |
A |
T |
2: 119,255,746 (GRCm39) |
L913* |
probably null |
Het |
| Inppl1 |
A |
C |
7: 101,473,174 (GRCm39) |
S1159A |
probably benign |
Het |
| Kcnk7 |
G |
A |
19: 5,756,140 (GRCm39) |
C122Y |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,620,962 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,574,033 (GRCm39) |
S704C |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 125,953,650 (GRCm39) |
C967* |
probably null |
Het |
| Nek10 |
T |
C |
14: 14,999,078 (GRCm38) |
|
probably benign |
Het |
| Oas1h |
A |
T |
5: 121,009,951 (GRCm39) |
D342V |
possibly damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,336 (GRCm39) |
N198S |
probably benign |
Het |
| Or2ak7 |
T |
A |
11: 58,575,014 (GRCm39) |
L105Q |
probably benign |
Het |
| Or2n1 |
A |
T |
17: 38,486,091 (GRCm39) |
M39L |
probably benign |
Het |
| Or4m1 |
A |
G |
14: 50,557,941 (GRCm39) |
V117A |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,439 (GRCm39) |
M34T |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,429,001 (GRCm39) |
V694E |
probably damaging |
Het |
| Rad50 |
G |
A |
11: 53,570,312 (GRCm39) |
A810V |
probably damaging |
Het |
| Rcor1 |
T |
C |
12: 111,076,271 (GRCm39) |
S410P |
probably damaging |
Het |
| Rps14 |
A |
T |
18: 60,909,551 (GRCm39) |
N26I |
probably benign |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Slc5a1 |
T |
A |
5: 33,312,052 (GRCm39) |
N481K |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,009,683 (GRCm39) |
|
probably null |
Het |
| Spart |
T |
C |
3: 55,024,992 (GRCm39) |
S196P |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,394,307 (GRCm39) |
T1701A |
probably benign |
Het |
| Sugt1 |
A |
G |
14: 79,862,365 (GRCm39) |
N271S |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,259,228 (GRCm39) |
L366F |
possibly damaging |
Het |
| Tnc |
G |
A |
4: 63,925,921 (GRCm39) |
T953I |
possibly damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,753,738 (GRCm39) |
S46P |
probably damaging |
Het |
| Vmn2r18 |
T |
C |
5: 151,499,099 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
T |
A |
3: 64,614,500 (GRCm39) |
Y438F |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,398,419 (GRCm39) |
K520N |
probably benign |
Het |
| Vps52 |
T |
C |
17: 34,176,868 (GRCm39) |
L74P |
probably damaging |
Het |
| Xpo5 |
G |
T |
17: 46,538,814 (GRCm39) |
M673I |
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,129 (GRCm39) |
V457A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGGGCCATCCTTGGTAATGACAG -3'
(R):5'- TGTGTGCTTGCCTCAGAGCATAATG -3'
Sequencing Primer
(F):5'- TGACAGCTTTCAGTGACTGACAG -3'
(R):5'- agccatctctccagccc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation