Incidental Mutation 'IGL03201:Fscn3'
ID |
412995 |
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 # |
IGL03201
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
28427888-28438621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28430604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 258
(V258A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020717]
[ENSMUST00000031719]
[ENSMUST00000064377]
[ENSMUST00000169841]
|
AlphaFold |
Q9QXW4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020717
|
SMART Domains |
Protein: ENSMUSP00000020717 Gene: ENSMUSG00000020440
Domain | Start | End | E-Value | Type |
ARF
|
1 |
180 |
5.83e-121 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031719
AA Change: V258A
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000031719 Gene: ENSMUSG00000029707 AA Change: V258A
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 |
probably benign
Transcript: ENSMUST00000064377
|
SMART Domains |
Protein: ENSMUSP00000067395 Gene: ENSMUSG00000029708
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
61 |
N/A |
INTRINSIC |
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
low complexity region
|
130 |
153 |
N/A |
INTRINSIC |
coiled coil region
|
156 |
315 |
N/A |
INTRINSIC |
low complexity region
|
408 |
418 |
N/A |
INTRINSIC |
low complexity region
|
432 |
443 |
N/A |
INTRINSIC |
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
Blast:H2B
|
492 |
590 |
3e-8 |
BLAST |
low complexity region
|
613 |
631 |
N/A |
INTRINSIC |
coiled coil region
|
659 |
701 |
N/A |
INTRINSIC |
Grip
|
719 |
766 |
8.28e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147036
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169841
|
SMART Domains |
Protein: ENSMUSP00000127281 Gene: ENSMUSG00000020440
Domain | Start | End | E-Value | Type |
ARF
|
1 |
180 |
5.83e-121 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,468 (GRCm39) |
E105G |
probably damaging |
Het |
Apc |
A |
G |
18: 34,445,429 (GRCm39) |
D757G |
probably damaging |
Het |
Arpc3 |
A |
T |
5: 122,539,781 (GRCm39) |
I45F |
probably damaging |
Het |
C3 |
C |
A |
17: 57,529,249 (GRCm39) |
V597L |
probably damaging |
Het |
Ccdc181 |
A |
G |
1: 164,108,213 (GRCm39) |
N299D |
probably benign |
Het |
Cdr1 |
T |
A |
X: 60,229,154 (GRCm39) |
Q4L |
unknown |
Het |
Cep170 |
G |
A |
1: 176,564,454 (GRCm39) |
S1464F |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,030,557 (GRCm39) |
Y826H |
probably damaging |
Het |
Chic2 |
A |
G |
5: 75,171,954 (GRCm39) |
|
probably benign |
Het |
Chrne |
T |
C |
11: 70,509,338 (GRCm39) |
H81R |
probably benign |
Het |
Clec4e |
A |
G |
6: 123,260,599 (GRCm39) |
I153T |
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,272,300 (GRCm39) |
D699V |
unknown |
Het |
Cul3 |
T |
G |
1: 80,259,144 (GRCm39) |
S379R |
probably damaging |
Het |
Cyp3a11 |
T |
A |
5: 145,797,189 (GRCm39) |
I397F |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,022,906 (GRCm39) |
K1077R |
probably benign |
Het |
Dnajc18 |
A |
G |
18: 35,813,972 (GRCm39) |
S266P |
probably benign |
Het |
Dydc1 |
T |
G |
14: 40,800,647 (GRCm39) |
L74R |
probably damaging |
Het |
Echdc2 |
G |
T |
4: 108,027,067 (GRCm39) |
A71S |
possibly damaging |
Het |
Fer1l4 |
T |
A |
2: 155,886,650 (GRCm39) |
D693V |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,869,516 (GRCm39) |
I4255N |
probably damaging |
Het |
Il1rl2 |
A |
G |
1: 40,382,200 (GRCm39) |
I171V |
possibly damaging |
Het |
Ino80d |
G |
T |
1: 63,097,467 (GRCm39) |
T809K |
probably damaging |
Het |
Lama2 |
A |
T |
10: 27,220,566 (GRCm39) |
L433* |
probably null |
Het |
Nlrp9c |
A |
T |
7: 26,084,533 (GRCm39) |
S349T |
probably benign |
Het |
Parp11 |
T |
C |
6: 127,466,981 (GRCm39) |
I124T |
possibly damaging |
Het |
Parp8 |
A |
T |
13: 116,999,605 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
T |
C |
4: 99,827,236 (GRCm39) |
F379L |
probably damaging |
Het |
Phf21b |
T |
C |
15: 84,671,448 (GRCm39) |
H482R |
probably benign |
Het |
Phka1 |
A |
C |
X: 101,584,716 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
T |
C |
12: 79,100,430 (GRCm39) |
W133R |
probably damaging |
Het |
Polr2a |
A |
C |
11: 69,636,516 (GRCm39) |
L405* |
probably null |
Het |
Prrg3 |
T |
A |
X: 71,010,108 (GRCm39) |
V3E |
probably damaging |
Het |
Pth1r |
T |
C |
9: 110,551,648 (GRCm39) |
K484E |
probably damaging |
Het |
Rcbtb1 |
T |
C |
14: 59,460,727 (GRCm39) |
L230P |
probably damaging |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Ssbp2 |
T |
C |
13: 91,672,720 (GRCm39) |
Y27H |
probably damaging |
Het |
Sult2a4 |
A |
G |
7: 13,665,692 (GRCm39) |
V157A |
probably damaging |
Het |
Tbx15 |
G |
A |
3: 99,259,296 (GRCm39) |
S389N |
probably benign |
Het |
Ttn |
T |
G |
2: 76,671,424 (GRCm39) |
|
probably benign |
Het |
Ube2n |
T |
C |
10: 95,378,127 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
G |
A |
5: 149,505,352 (GRCm39) |
|
probably null |
Het |
Wsb2 |
T |
C |
5: 117,514,620 (GRCm39) |
S298P |
possibly damaging |
Het |
Zc3h7a |
T |
C |
16: 10,974,166 (GRCm39) |
|
probably null |
Het |
Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
Zfp747 |
G |
A |
7: 126,973,180 (GRCm39) |
T330I |
probably damaging |
Het |
Zfp949 |
A |
G |
9: 88,450,717 (GRCm39) |
R96G |
probably benign |
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 |
IGL03202:Fscn3
|
APN |
6 |
28,434,451 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03227:Fscn3
|
APN |
6 |
28,434,429 (GRCm39) |
missense |
probably benign |
0.00 |
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 |