Incidental Mutation 'R7568:Fbxw16'
| ID |
585586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw16
|
| Ensembl Gene |
ENSMUSG00000074062 |
| Gene Name |
F-box and WD-40 domain protein 16 |
| Synonyms |
7420402K12Rik |
| MMRRC Submission |
045630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R7568 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109261386-109278208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109268657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 244
(Q244H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084984]
|
| AlphaFold |
Q497Z0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084984
AA Change: Q244H
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000082051
Gene: ENSMUSG00000074062
AA Change: Q244H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,391,956 (GRCm39) |
V97E |
possibly damaging |
Het |
| Actl7a |
A |
T |
4: 56,744,498 (GRCm39) |
T342S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,088,749 (GRCm39) |
S554P |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,780,638 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,060,390 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
C |
10: 127,961,139 (GRCm39) |
S1621P |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GGTTCTGTGGTCACT |
GGTTCTGTGGTCACTAGTTCTGTGGTCACT |
3: 95,795,484 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTCACTGGTTCTGTGGTCACTGGTTCTGTG |
GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG |
3: 95,795,463 (GRCm39) |
|
probably benign |
Het |
| Best1 |
T |
A |
19: 9,966,639 (GRCm39) |
|
probably null |
Het |
| Catip |
G |
T |
1: 74,408,089 (GRCm39) |
E474* |
probably null |
Het |
| Comp |
A |
G |
8: 70,826,509 (GRCm39) |
D28G |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,944,353 (GRCm39) |
R600W |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,521,997 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
A |
G |
17: 35,995,174 (GRCm39) |
S675P |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,926,898 (GRCm39) |
|
probably null |
Het |
| F2rl1 |
G |
A |
13: 95,650,522 (GRCm39) |
A120V |
probably damaging |
Het |
| Fam136a |
A |
G |
6: 86,342,784 (GRCm39) |
N24D |
probably benign |
Het |
| Fbxw10 |
C |
A |
11: 62,765,994 (GRCm39) |
Q755K |
probably benign |
Het |
| Gabrg2 |
T |
C |
11: 41,807,119 (GRCm39) |
K373E |
probably benign |
Het |
| Herc3 |
G |
A |
6: 58,820,795 (GRCm39) |
V60I |
probably benign |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,477 (GRCm39) |
K51* |
probably null |
Het |
| Krt23 |
T |
A |
11: 99,383,626 (GRCm39) |
K89* |
probably null |
Het |
| Mavs |
A |
G |
2: 131,087,395 (GRCm39) |
T298A |
probably benign |
Het |
| Mlec |
T |
C |
5: 115,288,181 (GRCm39) |
Y198C |
probably damaging |
Het |
| Ncam2 |
C |
A |
16: 81,386,689 (GRCm39) |
N689K |
probably benign |
Het |
| Nfkbia |
A |
G |
12: 55,538,546 (GRCm39) |
I82T |
probably damaging |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,496 (GRCm39) |
I163V |
probably benign |
Het |
| Or12j2 |
A |
G |
7: 139,915,895 (GRCm39) |
N40S |
probably damaging |
Het |
| Or7a35 |
A |
T |
10: 78,853,341 (GRCm39) |
I62F |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,942 (GRCm39) |
Y258C |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,796 (GRCm39) |
I356F |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,168,096 (GRCm39) |
L719Q |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,752 (GRCm39) |
V365D |
possibly damaging |
Het |
| Scrn2 |
T |
C |
11: 96,921,712 (GRCm39) |
Y61H |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,914,602 (GRCm39) |
V1505M |
probably damaging |
Het |
| Slc2a10 |
A |
G |
2: 165,356,802 (GRCm39) |
N154S |
probably damaging |
Het |
| Slc39a10 |
A |
T |
1: 46,874,290 (GRCm39) |
H337Q |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,404,939 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
G |
6: 91,701,832 (GRCm39) |
L80R |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,590,074 (GRCm39) |
Y1404C |
probably damaging |
Het |
| Sowahc |
A |
G |
10: 59,059,121 (GRCm39) |
E419G |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,095,441 (GRCm39) |
|
probably null |
Het |
| Stab1 |
C |
A |
14: 30,874,552 (GRCm39) |
C952F |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,765,850 (GRCm39) |
M312T |
possibly damaging |
Het |
| Tex2 |
A |
G |
11: 106,439,562 (GRCm39) |
I606T |
unknown |
Het |
| Tex55 |
T |
C |
16: 38,648,809 (GRCm39) |
E100G |
possibly damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,813 (GRCm39) |
H122R |
possibly damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,886 (GRCm39) |
I308V |
probably benign |
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 |
|
|
R5111:Fbxw16
|
UTSW |
9 |
109,265,796 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
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'- ACATTTGCCATTGTGACTGGTC -3'
(R):5'- CAGTGCAGATAAAACTCCTTCCTC -3'
Sequencing Primer
(F):5'- TGACTGGTCACGTGACTGCTC -3'
(R):5'- TGCAGATAAAACTCCTTCCTCCATAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation