Incidental Mutation 'IGL03227:Fscn3'
ID |
414134 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fscn3
|
Ensembl Gene |
ENSMUSG00000029707 |
Gene Name |
fascin actin-bundling protein 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
IGL03227
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
28427888-28438621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28434429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 335
(S335P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031719]
|
AlphaFold |
Q9QXW4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031719
AA Change: S335P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031719 Gene: ENSMUSG00000029707 AA Change: S335P
Domain | Start | End | E-Value | Type |
Pfam:Fascin
|
24 |
138 |
1e-29 |
PFAM |
SCOP:d1dfca2
|
146 |
260 |
2e-48 |
SMART |
Pfam:Fascin
|
271 |
381 |
2.1e-26 |
PFAM |
SCOP:d1dfca4
|
386 |
498 |
3e-53 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147036
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
C |
T |
1: 25,586,556 (GRCm39) |
G172E |
probably damaging |
Het |
Alas2 |
A |
G |
X: 149,340,262 (GRCm39) |
K151E |
probably damaging |
Het |
Apob |
A |
G |
12: 8,066,089 (GRCm39) |
T4353A |
probably benign |
Het |
Arhgef1 |
C |
A |
7: 24,622,276 (GRCm39) |
D554E |
probably damaging |
Het |
Atad2b |
T |
A |
12: 5,056,715 (GRCm39) |
L857Q |
probably damaging |
Het |
Atp2b4 |
C |
A |
1: 133,657,445 (GRCm39) |
|
probably benign |
Het |
Bche |
C |
A |
3: 73,608,945 (GRCm39) |
K160N |
probably damaging |
Het |
Bmx |
A |
G |
X: 162,986,192 (GRCm39) |
M537T |
probably damaging |
Het |
Bysl |
T |
C |
17: 47,922,017 (GRCm39) |
N27S |
probably benign |
Het |
Ccdc110 |
T |
A |
8: 46,394,586 (GRCm39) |
L159H |
probably damaging |
Het |
Cd34 |
G |
A |
1: 194,640,771 (GRCm39) |
C212Y |
probably damaging |
Het |
Erich2 |
C |
T |
2: 70,343,114 (GRCm39) |
|
probably benign |
Het |
Fap |
T |
A |
2: 62,361,107 (GRCm39) |
|
probably null |
Het |
Fitm2 |
T |
C |
2: 163,311,452 (GRCm39) |
T254A |
probably benign |
Het |
Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
Lbr |
T |
C |
1: 181,663,620 (GRCm39) |
|
probably null |
Het |
Lct |
A |
T |
1: 128,255,426 (GRCm39) |
F205L |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,958,435 (GRCm39) |
I550N |
probably benign |
Het |
Med13 |
A |
G |
11: 86,218,618 (GRCm39) |
|
probably benign |
Het |
Msh3 |
A |
T |
13: 92,422,468 (GRCm39) |
S563T |
probably damaging |
Het |
Msra |
A |
G |
14: 64,551,192 (GRCm39) |
V50A |
probably benign |
Het |
Or7g25 |
A |
G |
9: 19,160,518 (GRCm39) |
M59T |
probably damaging |
Het |
Pcdhb13 |
T |
A |
18: 37,576,711 (GRCm39) |
V363E |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,257,677 (GRCm39) |
T347M |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,999,920 (GRCm39) |
|
probably benign |
Het |
Rtl9 |
A |
C |
X: 141,882,824 (GRCm39) |
T79P |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,576,410 (GRCm39) |
|
probably null |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Smurf1 |
G |
T |
5: 144,835,992 (GRCm39) |
P123H |
probably damaging |
Het |
Strn4 |
A |
G |
7: 16,571,639 (GRCm39) |
T590A |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,796,483 (GRCm39) |
S780P |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,764,143 (GRCm39) |
Y250H |
probably benign |
Het |
Zfp770 |
A |
T |
2: 114,027,570 (GRCm39) |
C166* |
probably null |
Het |
|
Other mutations in Fscn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01290:Fscn3
|
APN |
6 |
28,430,505 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01312:Fscn3
|
APN |
6 |
28,434,469 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01634:Fscn3
|
APN |
6 |
28,430,537 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01899:Fscn3
|
APN |
6 |
28,436,078 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01928:Fscn3
|
APN |
6 |
28,430,181 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02334:Fscn3
|
APN |
6 |
28,428,153 (GRCm39) |
splice site |
probably null |
|
IGL02959:Fscn3
|
APN |
6 |
28,435,997 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03201:Fscn3
|
APN |
6 |
28,430,604 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03202:Fscn3
|
APN |
6 |
28,434,451 (GRCm39) |
missense |
probably benign |
0.10 |
0152:Fscn3
|
UTSW |
6 |
28,429,966 (GRCm39) |
unclassified |
probably benign |
|
R1478:Fscn3
|
UTSW |
6 |
28,430,567 (GRCm39) |
missense |
probably benign |
|
R1502:Fscn3
|
UTSW |
6 |
28,435,622 (GRCm39) |
missense |
probably benign |
0.05 |
R1955:Fscn3
|
UTSW |
6 |
28,430,235 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2122:Fscn3
|
UTSW |
6 |
28,430,388 (GRCm39) |
missense |
probably benign |
0.18 |
R2135:Fscn3
|
UTSW |
6 |
28,431,583 (GRCm39) |
missense |
probably benign |
0.02 |
R3713:Fscn3
|
UTSW |
6 |
28,428,091 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3715:Fscn3
|
UTSW |
6 |
28,428,091 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3778:Fscn3
|
UTSW |
6 |
28,430,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4572:Fscn3
|
UTSW |
6 |
28,430,634 (GRCm39) |
splice site |
probably null |
|
R4745:Fscn3
|
UTSW |
6 |
28,435,627 (GRCm39) |
missense |
probably damaging |
0.98 |
R4764:Fscn3
|
UTSW |
6 |
28,436,200 (GRCm39) |
makesense |
probably null |
|
R4794:Fscn3
|
UTSW |
6 |
28,430,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R5738:Fscn3
|
UTSW |
6 |
28,430,030 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5951:Fscn3
|
UTSW |
6 |
28,436,173 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5994:Fscn3
|
UTSW |
6 |
28,430,294 (GRCm39) |
missense |
probably benign |
|
R6595:Fscn3
|
UTSW |
6 |
28,430,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R7323:Fscn3
|
UTSW |
6 |
28,431,544 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7738:Fscn3
|
UTSW |
6 |
28,434,445 (GRCm39) |
missense |
probably benign |
0.01 |
R7840:Fscn3
|
UTSW |
6 |
28,430,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R8169:Fscn3
|
UTSW |
6 |
28,430,328 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8991:Fscn3
|
UTSW |
6 |
28,434,472 (GRCm39) |
missense |
probably benign |
|
R9111:Fscn3
|
UTSW |
6 |
28,430,310 (GRCm39) |
missense |
probably damaging |
0.98 |
R9350:Fscn3
|
UTSW |
6 |
28,430,432 (GRCm39) |
nonsense |
probably null |
|
R9370:Fscn3
|
UTSW |
6 |
28,434,535 (GRCm39) |
missense |
probably benign |
|
R9410:Fscn3
|
UTSW |
6 |
28,430,432 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |