Incidental Mutation 'IGL02882:Fscn2'
| ID |
362849 |
| 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 # |
IGL02882
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120252360-120258994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120253325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 264
(V264A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026445]
|
| AlphaFold |
Q32M02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026445
AA Change: V264A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380
AA Change: V264A
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,188,786 (GRCm39) |
L469* |
probably null |
Het |
| Calr3 |
T |
A |
8: 73,188,665 (GRCm39) |
Y46F |
probably damaging |
Het |
| Clcn4 |
A |
G |
7: 7,293,464 (GRCm39) |
C491R |
probably damaging |
Het |
| Col6a5 |
G |
T |
9: 105,811,520 (GRCm39) |
D666E |
unknown |
Het |
| D130052B06Rik |
G |
A |
11: 33,573,780 (GRCm39) |
V126M |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,833 (GRCm39) |
I389M |
possibly damaging |
Het |
| Dgka |
T |
C |
10: 128,569,253 (GRCm39) |
I160V |
possibly damaging |
Het |
| Enpp6 |
T |
C |
8: 47,483,567 (GRCm39) |
S120P |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,094,115 (GRCm39) |
I459T |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,324,910 (GRCm39) |
|
probably benign |
Het |
| Foxn2 |
T |
C |
17: 88,770,375 (GRCm39) |
L74P |
probably damaging |
Het |
| Gmeb2 |
G |
A |
2: 180,907,676 (GRCm39) |
T54I |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,303,379 (GRCm39) |
K3007* |
probably null |
Het |
| Ice1 |
A |
T |
13: 70,772,593 (GRCm39) |
|
probably benign |
Het |
| Lgi1 |
A |
G |
19: 38,272,453 (GRCm39) |
D84G |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,383,555 (GRCm39) |
I196V |
probably damaging |
Het |
| Nipal2 |
T |
C |
15: 34,600,223 (GRCm39) |
Y198C |
probably damaging |
Het |
| Npas2 |
A |
C |
1: 39,352,077 (GRCm39) |
S176R |
probably benign |
Het |
| Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
| Pam |
A |
C |
1: 97,768,092 (GRCm39) |
C713G |
probably damaging |
Het |
| Pcdh17 |
C |
A |
14: 84,684,101 (GRCm39) |
D189E |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,276 (GRCm39) |
I318N |
possibly damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,502,233 (GRCm39) |
S300P |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,497 (GRCm39) |
S1480P |
probably damaging |
Het |
| Plekhd1 |
G |
A |
12: 80,765,781 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
A |
T |
1: 194,444,878 (GRCm39) |
S757C |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,469,383 (GRCm39) |
K163* |
probably null |
Het |
| Serpina3f |
A |
T |
12: 104,183,263 (GRCm39) |
T42S |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,221,104 (GRCm39) |
N456D |
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,664,143 (GRCm39) |
L95Q |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,539,522 (GRCm39) |
V1600A |
probably benign |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,424 (GRCm39) |
Y188H |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,994 (GRCm39) |
K741R |
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 |
|
IGL02299:Fscn2
|
APN |
11 |
120,253,025 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation