Incidental Mutation 'R5780:Fscn2'
| ID |
446948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fscn2
|
| Ensembl Gene |
ENSMUSG00000025380 |
| Gene Name |
fascin actin-bundling protein 2 |
| Synonyms |
ahl8, C630046B20Rik |
| MMRRC Submission |
043205-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R5780 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120252360-120258994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 120257494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 285
(E285A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026445]
[ENSMUST00000026448]
|
| AlphaFold |
Q32M02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026445
AA Change: E285A
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380
AA Change: E285A
| 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 |
probably benign
Transcript: ENSMUST00000026448
|
| SMART Domains |
Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FANCAA
|
447 |
879 |
1.4e-196 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152556
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
C |
T |
1: 85,646,039 (GRCm39) |
A189T |
probably benign |
Het |
| Acsm4 |
A |
G |
7: 119,293,068 (GRCm39) |
E66G |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,699,290 (GRCm39) |
E578G |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,397,310 (GRCm39) |
D291E |
probably benign |
Het |
| Apoa4 |
A |
G |
9: 46,153,890 (GRCm39) |
M164V |
possibly damaging |
Het |
| Atp6v1a |
A |
T |
16: 43,935,006 (GRCm39) |
M61K |
probably benign |
Het |
| Avp |
A |
G |
2: 130,422,629 (GRCm39) |
S159P |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,713,679 (GRCm39) |
L841Q |
possibly damaging |
Het |
| Cdk5rap1 |
CTT |
CT |
2: 154,187,788 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
G |
9: 113,679,220 (GRCm39) |
L246R |
probably damaging |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,477,040 (GRCm39) |
D227G |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,522,478 (GRCm39) |
A2920V |
probably benign |
Het |
| Epb41l1 |
C |
T |
2: 156,338,445 (GRCm39) |
R163W |
probably damaging |
Het |
| Etfbkmt |
T |
A |
6: 149,048,657 (GRCm39) |
Y99N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,035,104 (GRCm39) |
Y2919H |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,643 (GRCm39) |
D234E |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,868,652 (GRCm39) |
D1443G |
probably benign |
Het |
| Hmga2 |
T |
A |
10: 120,298,583 (GRCm39) |
R79* |
probably null |
Het |
| Hrh3 |
A |
T |
2: 179,742,608 (GRCm39) |
V308E |
probably damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,248,787 (GRCm39) |
G93D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,312,712 (GRCm39) |
F4151S |
probably damaging |
Het |
| Ica1l |
C |
A |
1: 60,067,374 (GRCm39) |
E5D |
probably benign |
Het |
| Kcnma1 |
C |
A |
14: 23,436,419 (GRCm39) |
E640* |
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,722,950 (GRCm39) |
H2422Y |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,299,269 (GRCm39) |
T47A |
probably damaging |
Het |
| Mmp13 |
T |
G |
9: 7,278,952 (GRCm39) |
F348V |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,181 (GRCm39) |
D675G |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,860,410 (GRCm39) |
C1610R |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,686,804 (GRCm39) |
Q68L |
probably damaging |
Het |
| Or4k41 |
A |
T |
2: 111,280,178 (GRCm39) |
D231V |
probably benign |
Het |
| Or6c208 |
T |
C |
10: 129,223,939 (GRCm39) |
S146P |
probably damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,793 (GRCm39) |
M127K |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,174,997 (GRCm39) |
I751N |
probably damaging |
Het |
| Pramel19 |
C |
T |
4: 101,798,724 (GRCm39) |
L232F |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,435,593 (GRCm39) |
T3A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,070,953 (GRCm39) |
C34S |
probably damaging |
Het |
| Sema3f |
A |
G |
9: 107,559,788 (GRCm39) |
L702P |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,774,695 (GRCm39) |
L116Q |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,533,877 (GRCm39) |
V3378A |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,282,976 (GRCm39) |
I158V |
possibly damaging |
Het |
| Tbc1d10b |
G |
A |
7: 126,797,925 (GRCm39) |
R739W |
possibly damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Ube4b |
C |
T |
4: 149,415,821 (GRCm39) |
R1091Q |
probably benign |
Het |
| Vwce |
C |
A |
19: 10,627,983 (GRCm39) |
P481Q |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,139 (GRCm39) |
M33K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTTAGAGGCATGTCTGTG -3'
(R):5'- ATGACCGAAGTGACAGTGGTC -3'
Sequencing Primer
(F):5'- CCTTAGAGGCATGTCTGTGTGAGG -3'
(R):5'- CAGATCTCTGGGTTGGAAACTAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation