Incidental Mutation 'R5514:Fscn2'
ID |
440252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fscn2
|
Ensembl Gene |
ENSMUSG00000025380 |
Gene Name |
fascin actin-bundling protein 2 |
Synonyms |
ahl8, C630046B20Rik |
MMRRC Submission |
043074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R5514 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
120252360-120258994 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120258858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 468
(Y468H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026445]
[ENSMUST00000026448]
|
AlphaFold |
Q32M02 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026445
AA Change: Y468H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026445 Gene: ENSMUSG00000025380 AA Change: Y468H
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: ENSMUST00000134771
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135635
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154826
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
T |
C |
12: 21,390,520 (GRCm39) |
S382G |
probably damaging |
Het |
Agr2 |
G |
A |
12: 36,046,090 (GRCm39) |
V74I |
probably benign |
Het |
Aldh3a1 |
T |
C |
11: 61,108,867 (GRCm39) |
S423P |
probably damaging |
Het |
Ampd1 |
C |
T |
3: 102,986,488 (GRCm39) |
H56Y |
possibly damaging |
Het |
Arhgef2 |
C |
A |
3: 88,550,304 (GRCm39) |
P670T |
probably benign |
Het |
Blk |
T |
G |
14: 63,615,930 (GRCm39) |
D333A |
probably damaging |
Het |
Bmi1 |
T |
C |
2: 18,686,714 (GRCm39) |
I31T |
probably damaging |
Het |
Cacna1d |
G |
A |
14: 30,072,790 (GRCm39) |
Q62* |
probably null |
Het |
Ccdc88c |
A |
G |
12: 100,879,698 (GRCm39) |
S1801P |
probably damaging |
Het |
Cdkal1 |
C |
T |
13: 29,961,270 (GRCm39) |
A100T |
probably damaging |
Het |
Cfap251 |
G |
T |
5: 123,425,829 (GRCm39) |
|
probably null |
Het |
Chst4 |
G |
T |
8: 110,756,606 (GRCm39) |
S419Y |
probably damaging |
Het |
Cntn4 |
T |
C |
6: 106,649,844 (GRCm39) |
I680T |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,694,875 (GRCm39) |
V101A |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,411,091 (GRCm39) |
E451V |
probably damaging |
Het |
Dffa |
T |
A |
4: 149,190,772 (GRCm39) |
|
probably null |
Het |
Dgkd |
A |
G |
1: 87,861,832 (GRCm39) |
R796G |
probably damaging |
Het |
Dzank1 |
T |
A |
2: 144,323,605 (GRCm39) |
M614L |
probably benign |
Het |
Elf2 |
G |
T |
3: 51,215,555 (GRCm39) |
Q52K |
probably damaging |
Het |
Fcamr |
T |
A |
1: 130,741,793 (GRCm39) |
L522Q |
probably damaging |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gm4787 |
A |
G |
12: 81,425,102 (GRCm39) |
V352A |
possibly damaging |
Het |
Gtsf1 |
T |
C |
15: 103,336,802 (GRCm39) |
Q13R |
probably benign |
Het |
Itpkb |
G |
A |
1: 180,241,474 (GRCm39) |
V715M |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,053,928 (GRCm39) |
S263T |
probably damaging |
Het |
Krba1 |
T |
G |
6: 48,390,429 (GRCm39) |
L736R |
probably damaging |
Het |
Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
Mtor |
T |
A |
4: 148,630,901 (GRCm39) |
V2286E |
probably damaging |
Het |
Mybbp1a |
T |
A |
11: 72,341,462 (GRCm39) |
V1100E |
possibly damaging |
Het |
Myo5a |
G |
A |
9: 75,061,048 (GRCm39) |
G518D |
probably damaging |
Het |
Nalcn |
A |
T |
14: 123,521,123 (GRCm39) |
I1594N |
probably benign |
Het |
Nav1 |
C |
G |
1: 135,398,299 (GRCm39) |
G761A |
probably benign |
Het |
Ncoa2 |
A |
T |
1: 13,251,445 (GRCm39) |
L276H |
probably damaging |
Het |
Ndufaf7 |
T |
C |
17: 79,245,051 (GRCm39) |
Y57H |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,299,847 (GRCm39) |
Y807C |
probably damaging |
Het |
Nid2 |
A |
T |
14: 19,852,535 (GRCm39) |
Q1081L |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 31,827,189 (GRCm39) |
I134F |
probably damaging |
Het |
Nmu |
A |
C |
5: 76,497,979 (GRCm39) |
S69A |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,112,817 (GRCm39) |
I220N |
probably damaging |
Het |
Or5t7 |
T |
C |
2: 86,507,225 (GRCm39) |
I151V |
probably benign |
Het |
Pard3 |
A |
G |
8: 128,153,086 (GRCm39) |
R886G |
probably damaging |
Het |
Pde6b |
G |
T |
5: 108,571,317 (GRCm39) |
Q423H |
probably benign |
Het |
Pip5k1b |
A |
T |
19: 24,327,505 (GRCm39) |
D450E |
probably damaging |
Het |
Plcg1 |
T |
C |
2: 160,595,275 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,103,246 (GRCm39) |
S504P |
possibly damaging |
Het |
Pomt2 |
A |
T |
12: 87,175,797 (GRCm39) |
D312E |
probably damaging |
Het |
Ppp1r1b |
T |
C |
11: 98,246,228 (GRCm39) |
L70P |
probably damaging |
Het |
Prr5 |
C |
A |
15: 84,587,096 (GRCm39) |
P282Q |
probably benign |
Het |
Reln |
A |
T |
5: 22,176,883 (GRCm39) |
W1928R |
possibly damaging |
Het |
Sacm1l |
A |
T |
9: 123,415,419 (GRCm39) |
R465* |
probably null |
Het |
Sema7a |
A |
G |
9: 57,863,046 (GRCm39) |
Y239C |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,044,054 (GRCm39) |
T3531A |
possibly damaging |
Het |
Tjp1 |
A |
T |
7: 65,004,609 (GRCm39) |
W19R |
probably damaging |
Het |
Tmc2 |
T |
A |
2: 130,083,564 (GRCm39) |
M507K |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,095,795 (GRCm39) |
Y1241H |
probably damaging |
Het |
Upp1 |
C |
T |
11: 9,081,771 (GRCm39) |
P103S |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,221,624 (GRCm39) |
E663G |
probably damaging |
Het |
Vmn2r68 |
G |
A |
7: 84,886,767 (GRCm39) |
T49I |
possibly damaging |
Het |
Xirp2 |
A |
T |
2: 67,335,465 (GRCm39) |
M95L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGGCGCCTATCAGATTAGAG -3'
(R):5'- CCTACTACCAAATGGCAGCTTG -3'
Sequencing Primer
(F):5'- CGCCTATCAGATTAGAGGTGTG -3'
(R):5'- GGCAGCTTGAGCCCACG -3'
|
Posted On |
2016-11-08 |