Incidental Mutation 'R0037:Fscn1'
| ID |
15642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fscn1
|
| Ensembl Gene |
ENSMUSG00000029581 |
| Gene Name |
fascin actin-bundling protein 1 |
| Synonyms |
fascin-1, Fan1 |
| MMRRC Submission |
038331-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.622)
|
| Stock # |
R0037 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142946110-142958944 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 142956449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031565]
[ENSMUST00000198017]
|
| AlphaFold |
Q61553 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031565
|
| SMART Domains |
Protein: ENSMUSP00000031565
Gene: ENSMUSG00000029581
| 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 |
probably benign
Transcript: ENSMUST00000129306
|
| SMART Domains |
Protein: ENSMUSP00000122862
Gene: ENSMUSG00000029581
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142509
Gene: ENSMUSG00000029581
| 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 |
- 1x: 81.5%
- 3x: 73.9%
- 10x: 52.8%
- 20x: 32.9%
|
| Validation Efficiency |
94% (83/88) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,769,891 (GRCm39) |
R330Q |
possibly damaging |
Het |
| Amph |
A |
T |
13: 19,284,823 (GRCm39) |
S250C |
possibly damaging |
Het |
| Ankrd61 |
T |
C |
5: 143,831,795 (GRCm39) |
N3S |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,209,630 (GRCm39) |
E621K |
probably damaging |
Het |
| Cpt2 |
A |
G |
4: 107,765,171 (GRCm39) |
S152P |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,967,248 (GRCm39) |
Q3205L |
probably damaging |
Het |
| Dag1 |
G |
T |
9: 108,084,552 (GRCm39) |
P863Q |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,163,480 (GRCm39) |
I191V |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,847,967 (GRCm39) |
L567P |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,750 (GRCm39) |
|
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,347,658 (GRCm39) |
E104G |
probably damaging |
Het |
| Foxp1 |
T |
A |
6: 99,139,930 (GRCm39) |
Q17L |
probably damaging |
Het |
| Fut8 |
T |
C |
12: 77,411,811 (GRCm39) |
V91A |
probably benign |
Het |
| Gm5475 |
T |
A |
15: 100,322,083 (GRCm39) |
Y77* |
probably null |
Het |
| Gm5800 |
T |
C |
14: 51,953,605 (GRCm39) |
|
probably benign |
Het |
| Hs2st1 |
T |
A |
3: 144,143,405 (GRCm39) |
K213* |
probably null |
Het |
| Il5ra |
T |
A |
6: 106,719,647 (GRCm39) |
Y62F |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,635,851 (GRCm39) |
E734G |
probably damaging |
Het |
| Insig2 |
A |
T |
1: 121,234,649 (GRCm39) |
C194S |
probably damaging |
Het |
| Lemd3 |
A |
C |
10: 120,761,361 (GRCm39) |
H898Q |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,301,548 (GRCm39) |
T43A |
probably benign |
Het |
| Mast3 |
C |
T |
8: 71,236,343 (GRCm39) |
|
probably null |
Het |
| Melk |
T |
C |
4: 44,360,864 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
C |
T |
15: 25,666,618 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
G |
A |
8: 95,216,163 (GRCm39) |
V967M |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,647 (GRCm39) |
F295I |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,843,999 (GRCm39) |
D1653E |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,251,827 (GRCm39) |
L449Q |
probably damaging |
Het |
| Ppp1r16b |
T |
A |
2: 158,599,129 (GRCm39) |
I367N |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,279,331 (GRCm39) |
L139S |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,052,692 (GRCm39) |
V658A |
probably damaging |
Het |
| Son |
C |
A |
16: 91,461,616 (GRCm39) |
A347E |
probably damaging |
Het |
| Tprg1l |
C |
A |
4: 154,244,594 (GRCm39) |
V134L |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,484 (GRCm39) |
N733I |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,773,934 (GRCm39) |
F1488L |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,634,266 (GRCm39) |
D810G |
probably benign |
Het |
| Zfp473 |
T |
A |
7: 44,383,324 (GRCm39) |
K335N |
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 |
|
IGL02311:Fscn1
|
APN |
5 |
142,957,765 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
2012-12-21 |
Incidental Mutation