Incidental Mutation 'R5111:Fbxw16'
| ID |
393863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw16
|
| Ensembl Gene |
ENSMUSG00000074062 |
| Gene Name |
F-box and WD-40 domain protein 16 |
| Synonyms |
7420402K12Rik |
| MMRRC Submission |
042699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R5111 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109261386-109278208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109265796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 341
(D341G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084984]
|
| AlphaFold |
Q497Z0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084984
AA Change: D341G
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000082051
Gene: ENSMUSG00000074062
AA Change: D341G
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
2.72e-6 |
SMART |
|
SCOP:d1e1aa_
|
128 |
249 |
3e-5 |
SMART |
|
Blast:WD40
|
137 |
176 |
1e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196515
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
A |
T |
7: 83,800,646 (GRCm39) |
L136* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,390,858 (GRCm39) |
S2271T |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,982,408 (GRCm39) |
D179G |
probably benign |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,120,829 (GRCm39) |
M1K |
probably null |
Het |
| Capns1 |
A |
G |
7: 29,891,944 (GRCm39) |
V106A |
probably benign |
Het |
| Ccnjl |
A |
G |
11: 43,447,544 (GRCm39) |
T76A |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col6a6 |
C |
T |
9: 105,586,673 (GRCm39) |
V1783I |
possibly damaging |
Het |
| Crisp3 |
T |
C |
17: 40,536,695 (GRCm39) |
T207A |
possibly damaging |
Het |
| Crxos |
G |
A |
7: 15,630,142 (GRCm39) |
|
probably benign |
Het |
| Csf3r |
T |
C |
4: 125,923,861 (GRCm39) |
|
probably null |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,046 (GRCm39) |
Y485C |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,026,994 (GRCm39) |
|
probably benign |
Het |
| Elp3 |
A |
C |
14: 65,797,685 (GRCm39) |
Y329D |
probably damaging |
Het |
| H2-Ab1 |
T |
A |
17: 34,486,456 (GRCm39) |
S172T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,310 (GRCm39) |
V321A |
probably benign |
Het |
| Ighv6-3 |
A |
T |
12: 114,355,394 (GRCm39) |
S98R |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,155 (GRCm39) |
E153G |
possibly damaging |
Het |
| Klrb1c |
C |
T |
6: 128,762,968 (GRCm39) |
R83H |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,877,378 (GRCm39) |
K9E |
possibly damaging |
Het |
| Liph |
G |
A |
16: 21,802,820 (GRCm39) |
S83F |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,798,872 (GRCm39) |
I261T |
possibly damaging |
Het |
| Mdm2 |
A |
T |
10: 117,527,126 (GRCm39) |
V273D |
possibly damaging |
Het |
| Mterf1a |
A |
G |
5: 3,941,860 (GRCm39) |
S3P |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,437,678 (GRCm39) |
T172A |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,582,669 (GRCm39) |
S194R |
probably benign |
Het |
| Nusap1 |
T |
A |
2: 119,460,837 (GRCm39) |
L110* |
probably null |
Het |
| Palb2 |
A |
T |
7: 121,716,528 (GRCm39) |
C488* |
probably null |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,558 (GRCm39) |
N457I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,991,612 (GRCm39) |
S49C |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,558 (GRCm39) |
I535N |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,284,858 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,601,728 (GRCm39) |
L744Q |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,113,600 (GRCm39) |
E1549G |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,713,798 (GRCm39) |
T742I |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,868 (GRCm39) |
H1229Q |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,154 (GRCm39) |
H920R |
possibly damaging |
Het |
| Urb1 |
A |
C |
16: 90,548,905 (GRCm39) |
S2268A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,968,157 (GRCm39) |
Y169N |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,485,913 (GRCm39) |
M527K |
possibly damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,326 (GRCm39) |
I733F |
probably damaging |
Het |
| Vstm2l |
A |
G |
2: 157,777,389 (GRCm39) |
D89G |
probably damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,044,612 (GRCm39) |
Q303K |
probably benign |
Het |
| Zfand2a |
A |
G |
5: 139,459,509 (GRCm39) |
V159A |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,865,170 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Fbxw16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02139:Fbxw16
|
APN |
9 |
109,265,754 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02801:Fbxw16
|
APN |
9 |
109,270,144 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
milky_way
|
UTSW |
9 |
109,270,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0041:Fbxw16
|
UTSW |
9 |
109,277,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Fbxw16
|
UTSW |
9 |
109,265,236 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0389:Fbxw16
|
UTSW |
9 |
109,261,550 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0652:Fbxw16
|
UTSW |
9 |
109,265,236 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1693:Fbxw16
|
UTSW |
9 |
109,265,327 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1772:Fbxw16
|
UTSW |
9 |
109,268,650 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1965:Fbxw16
|
UTSW |
9 |
109,270,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2190:Fbxw16
|
UTSW |
9 |
109,265,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2334:Fbxw16
|
UTSW |
9 |
109,267,429 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3800:Fbxw16
|
UTSW |
9 |
109,265,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3976:Fbxw16
|
UTSW |
9 |
109,268,697 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4298:Fbxw16
|
UTSW |
9 |
109,275,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4914:Fbxw16
|
UTSW |
9 |
109,267,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4948:Fbxw16
|
UTSW |
9 |
109,267,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Fbxw16
|
UTSW |
9 |
109,270,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Fbxw16
|
UTSW |
9 |
109,270,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Fbxw16
|
UTSW |
9 |
109,270,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5294:Fbxw16
|
UTSW |
9 |
109,265,712 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5901:Fbxw16
|
UTSW |
9 |
109,270,285 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6295:Fbxw16
|
UTSW |
9 |
109,277,837 (GRCm39) |
intron |
probably benign |
|
|
R6303:Fbxw16
|
UTSW |
9 |
109,278,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6664:Fbxw16
|
UTSW |
9 |
109,267,326 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6670:Fbxw16
|
UTSW |
9 |
109,267,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6890:Fbxw16
|
UTSW |
9 |
109,265,810 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7056:Fbxw16
|
UTSW |
9 |
109,265,352 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7073:Fbxw16
|
UTSW |
9 |
109,270,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Fbxw16
|
UTSW |
9 |
109,278,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7396:Fbxw16
|
UTSW |
9 |
109,278,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Fbxw16
|
UTSW |
9 |
109,268,619 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7568:Fbxw16
|
UTSW |
9 |
109,268,657 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7735:Fbxw16
|
UTSW |
9 |
109,270,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Fbxw16
|
UTSW |
9 |
109,277,222 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7998:Fbxw16
|
UTSW |
9 |
109,265,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9019:Fbxw16
|
UTSW |
9 |
109,270,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Fbxw16
|
UTSW |
9 |
109,265,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:Fbxw16
|
UTSW |
9 |
109,276,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Fbxw16
|
UTSW |
9 |
109,278,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCACACCCCAACAGTATG -3'
(R):5'- AGACCAATGGACTGTTTTCATTGTC -3'
Sequencing Primer
(F):5'- TTTAACCACTGAGGGGAAAACATTCC -3'
(R):5'- CTCTTCAGACTAGCATGCCATGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation