Incidental Mutation 'IGL02311:Fscn1'
| ID |
287807 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fscn1
|
| Ensembl Gene |
ENSMUSG00000029581 |
| Gene Name |
fascin actin-bundling protein 1 |
| Synonyms |
fascin-1, Fan1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
IGL02311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
142946110-142958944 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142957765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 304
(V304A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031565]
[ENSMUST00000198017]
|
| AlphaFold |
Q61553 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031565
AA Change: V465A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000031565
Gene: ENSMUSG00000029581
AA Change: V465A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fascin
|
20 |
134 |
1.9e-37 |
PFAM |
|
Pfam:Fascin
|
142 |
256 |
4.1e-30 |
PFAM |
|
Pfam:Fascin
|
268 |
378 |
1.3e-36 |
PFAM |
|
Pfam:Fascin
|
391 |
493 |
9.4e-24 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129306
AA Change: V212A
|
| SMART Domains |
Protein: ENSMUSP00000122862
Gene: ENSMUSG00000029581
AA Change: V212A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fascin
|
16 |
126 |
1.1e-37 |
PFAM |
|
Pfam:Fascin
|
139 |
241 |
8.3e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137552
|
| SMART Domains |
Protein: ENSMUSP00000119590
Gene: ENSMUSG00000029581
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fascin
|
1 |
100 |
1.6e-33 |
PFAM |
|
Pfam:Fascin
|
113 |
167 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139131
|
| SMART Domains |
Protein: ENSMUSP00000115116
Gene: ENSMUSG00000029581
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fascin
|
1 |
100 |
1.1e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150622
|
| SMART Domains |
Protein: ENSMUSP00000123347
Gene: ENSMUSG00000029581
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fascin
|
1 |
100 |
3.4e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198017
AA Change: V304A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142509
Gene: ENSMUSG00000029581
AA Change: V304A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fascin
|
20 |
74 |
2.3e-12 |
PFAM |
|
Pfam:Fascin
|
107 |
217 |
7.3e-34 |
PFAM |
|
Pfam:Fascin
|
230 |
332 |
1.5e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired migration of mature dendritic cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
C |
A |
5: 25,202,705 (GRCm39) |
|
probably benign |
Het |
| Adam21 |
T |
G |
12: 81,607,666 (GRCm39) |
D32A |
probably benign |
Het |
| Asns |
A |
G |
6: 7,676,233 (GRCm39) |
|
probably null |
Het |
| Bin3 |
A |
T |
14: 70,361,666 (GRCm39) |
M45L |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,225,134 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,163 (GRCm39) |
T2642A |
probably benign |
Het |
| Dbndd2 |
T |
C |
2: 164,330,622 (GRCm39) |
S92P |
possibly damaging |
Het |
| Dclre1b |
A |
C |
3: 103,715,409 (GRCm39) |
F30V |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,755,624 (GRCm39) |
D200G |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,076,456 (GRCm39) |
R335L |
probably damaging |
Het |
| Gm7008 |
G |
A |
12: 40,273,385 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
G |
14: 5,864,425 (GRCm38) |
|
probably null |
Het |
| Ifih1 |
T |
C |
2: 62,440,847 (GRCm39) |
T440A |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,571 (GRCm39) |
S237F |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,001,743 (GRCm39) |
I174V |
probably benign |
Het |
| Or2ag2 |
A |
G |
7: 106,485,101 (GRCm39) |
Y308H |
probably benign |
Het |
| Or8c11 |
C |
T |
9: 38,289,194 (GRCm39) |
Q6* |
probably null |
Het |
| Orc1 |
G |
T |
4: 108,457,171 (GRCm39) |
V404L |
probably benign |
Het |
| Pcsk5 |
G |
T |
19: 17,410,784 (GRCm39) |
Y1869* |
probably null |
Het |
| Phf21b |
A |
G |
15: 84,678,095 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,484,246 (GRCm39) |
T631A |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,930,190 (GRCm39) |
N349D |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,637 (GRCm39) |
S976G |
probably benign |
Het |
| Scn8a |
G |
T |
15: 100,911,164 (GRCm39) |
M861I |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,239 (GRCm39) |
N433S |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,910,630 (GRCm39) |
K854R |
probably benign |
Het |
| Tbata |
T |
A |
10: 61,015,234 (GRCm39) |
C150* |
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,692 (GRCm39) |
P417S |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tpr |
G |
T |
1: 150,274,404 (GRCm39) |
D104Y |
probably damaging |
Het |
| Ubash3b |
T |
C |
9: 40,958,333 (GRCm39) |
T16A |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,335,635 (GRCm39) |
S548T |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,660 (GRCm39) |
V1869E |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,120,732 (GRCm39) |
C64R |
probably benign |
Het |
| Zic2 |
C |
A |
14: 122,713,606 (GRCm39) |
N173K |
probably damaging |
Het |
|
| Other mutations in Fscn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02189:Fscn1
|
APN |
5 |
142,946,375 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0037:Fscn1
|
UTSW |
5 |
142,956,449 (GRCm39) |
splice site |
probably benign |
|
|
R1163:Fscn1
|
UTSW |
5 |
142,946,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Fscn1
|
UTSW |
5 |
142,955,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4342:Fscn1
|
UTSW |
5 |
142,957,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Fscn1
|
UTSW |
5 |
142,946,799 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6248:Fscn1
|
UTSW |
5 |
142,946,778 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6517:Fscn1
|
UTSW |
5 |
142,957,741 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6594:Fscn1
|
UTSW |
5 |
142,955,783 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6964:Fscn1
|
UTSW |
5 |
142,946,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Fscn1
|
UTSW |
5 |
142,946,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Fscn1
|
UTSW |
5 |
142,946,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Fscn1
|
UTSW |
5 |
142,957,801 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7233:Fscn1
|
UTSW |
5 |
142,956,029 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8030:Fscn1
|
UTSW |
5 |
142,946,756 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8121:Fscn1
|
UTSW |
5 |
142,946,616 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation