Incidental Mutation 'IGL02299:Fscn2'
| ID |
290242 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fscn2
|
| Ensembl Gene |
ENSMUSG00000025380 |
| Gene Name |
fascin actin-bundling protein 2 |
| Synonyms |
ahl8, C630046B20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL02299
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120252360-120258994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120253025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 164
(D164G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026445]
|
| AlphaFold |
Q32M02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026445
AA Change: D164G
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380
AA Change: D164G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fascin
|
20 |
133 |
4.9e-34 |
PFAM |
|
Pfam:Fascin
|
141 |
254 |
1.2e-26 |
PFAM |
|
Pfam:Fascin
|
266 |
376 |
8.9e-35 |
PFAM |
|
Pfam:Fascin
|
389 |
492 |
4.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152556
|
| 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 protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display retinal generation with structural abnormalities of the outer segment and depressed rod and cone ERGs that worsen with age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
C |
T |
12: 84,105,585 (GRCm39) |
Q351* |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,143,812 (GRCm39) |
H993L |
possibly damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,338,286 (GRCm39) |
|
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,619,015 (GRCm39) |
I13T |
probably damaging |
Het |
| Clasp2 |
T |
A |
9: 113,709,057 (GRCm39) |
D633E |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,770,316 (GRCm39) |
E23G |
probably damaging |
Het |
| Dnah3 |
G |
T |
7: 119,566,802 (GRCm39) |
L2475I |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,881,755 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,874,482 (GRCm39) |
S1629T |
probably benign |
Het |
| Mpp4 |
C |
A |
1: 59,197,738 (GRCm39) |
|
probably benign |
Het |
| Nmi |
T |
A |
2: 51,848,976 (GRCm39) |
N38I |
probably damaging |
Het |
| Nod2 |
T |
A |
8: 89,390,370 (GRCm39) |
L226M |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,796,978 (GRCm39) |
S909P |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,043,755 (GRCm39) |
W126R |
probably benign |
Het |
| Pcdhb5 |
T |
C |
18: 37,453,943 (GRCm39) |
F108L |
probably benign |
Het |
| Plxna4 |
G |
A |
6: 32,142,091 (GRCm39) |
P1589S |
probably benign |
Het |
| Qtrt1 |
A |
G |
9: 21,323,245 (GRCm39) |
E32G |
probably benign |
Het |
| S100a3 |
A |
G |
3: 90,509,562 (GRCm39) |
E69G |
possibly damaging |
Het |
| Slc1a6 |
C |
A |
10: 78,629,137 (GRCm39) |
P185T |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,361,998 (GRCm39) |
I274F |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,340,752 (GRCm39) |
N468S |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,078,128 (GRCm39) |
L1567P |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,390,174 (GRCm39) |
S424L |
probably benign |
Het |
| Urgcp |
A |
G |
11: 5,667,573 (GRCm39) |
L255P |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,815 (GRCm39) |
K359N |
probably benign |
Het |
| Xpo1 |
T |
A |
11: 23,243,915 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fscn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01684:Fscn2
|
APN |
11 |
120,258,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01767:Fscn2
|
APN |
11 |
120,258,576 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02212:Fscn2
|
APN |
11 |
120,252,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02494:Fscn2
|
APN |
11 |
120,253,228 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02716:Fscn2
|
APN |
11 |
120,257,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02882:Fscn2
|
APN |
11 |
120,253,325 (GRCm39) |
missense |
probably benign |
|
|
IGL02986:Fscn2
|
APN |
11 |
120,258,176 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
bundle
|
UTSW |
11 |
120,258,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513_Fscn2_038
|
UTSW |
11 |
120,252,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170_Fscn2_209
|
UTSW |
11 |
120,253,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
ANU74:Fscn2
|
UTSW |
11 |
120,253,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Fscn2
|
UTSW |
11 |
120,258,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Fscn2
|
UTSW |
11 |
120,258,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Fscn2
|
UTSW |
11 |
120,252,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1451:Fscn2
|
UTSW |
11 |
120,252,848 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1620:Fscn2
|
UTSW |
11 |
120,257,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Fscn2
|
UTSW |
11 |
120,258,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Fscn2
|
UTSW |
11 |
120,252,417 (GRCm39) |
start gained |
probably benign |
|
|
R2327:Fscn2
|
UTSW |
11 |
120,257,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2384:Fscn2
|
UTSW |
11 |
120,257,559 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2397:Fscn2
|
UTSW |
11 |
120,252,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Fscn2
|
UTSW |
11 |
120,258,169 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4634:Fscn2
|
UTSW |
11 |
120,258,546 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4784:Fscn2
|
UTSW |
11 |
120,258,813 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5062:Fscn2
|
UTSW |
11 |
120,257,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Fscn2
|
UTSW |
11 |
120,252,686 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5514:Fscn2
|
UTSW |
11 |
120,258,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5780:Fscn2
|
UTSW |
11 |
120,257,494 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6073:Fscn2
|
UTSW |
11 |
120,252,613 (GRCm39) |
nonsense |
probably null |
|
|
R6345:Fscn2
|
UTSW |
11 |
120,252,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7110:Fscn2
|
UTSW |
11 |
120,257,580 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7170:Fscn2
|
UTSW |
11 |
120,253,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7171:Fscn2
|
UTSW |
11 |
120,253,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7538:Fscn2
|
UTSW |
11 |
120,258,152 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7917:Fscn2
|
UTSW |
11 |
120,258,082 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9468:Fscn2
|
UTSW |
11 |
120,253,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Fscn2
|
UTSW |
11 |
120,258,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation