Incidental Mutation 'R1736:Fscn2'
ID |
199734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fscn2
|
Ensembl Gene |
ENSMUSG00000025380 |
Gene Name |
fascin actin-bundling protein 2 |
Synonyms |
ahl8, C630046B20Rik |
MMRRC Submission |
039768-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R1736 (G1)
|
Quality Score |
219 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
120252360-120258994 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 120258852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 466
(G466S)
|
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: G466S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026445 Gene: ENSMUSG00000025380 AA Change: G466S
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
|
Meta Mutation Damage Score |
0.3503 |
Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
Validation Efficiency |
97% (57/59) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adcy3 |
A |
G |
12: 4,250,998 (GRCm39) |
N586D |
possibly damaging |
Het |
Ak6 |
T |
A |
13: 100,791,689 (GRCm39) |
|
probably null |
Het |
Ankrd66 |
T |
C |
17: 43,854,409 (GRCm39) |
D41G |
probably benign |
Het |
Atp8b2 |
G |
A |
3: 89,860,001 (GRCm39) |
P339S |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 29,811,820 (GRCm39) |
V1297I |
probably damaging |
Het |
Cbl |
A |
T |
9: 44,064,192 (GRCm39) |
D781E |
possibly damaging |
Het |
Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Clint1 |
A |
G |
11: 45,797,004 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
G |
1: 90,706,781 (GRCm39) |
Y2111H |
unknown |
Het |
Csnk1g1 |
A |
G |
9: 65,927,197 (GRCm39) |
|
probably null |
Het |
Dse |
A |
T |
10: 34,029,145 (GRCm39) |
N648K |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,376,966 (GRCm39) |
K1584E |
probably benign |
Het |
Ezh2 |
A |
T |
6: 47,553,594 (GRCm39) |
M41K |
probably damaging |
Het |
Garin5b |
A |
G |
7: 4,761,153 (GRCm39) |
S520P |
probably damaging |
Het |
Gm15217 |
A |
G |
14: 46,620,663 (GRCm39) |
|
probably benign |
Het |
Gm9696 |
T |
C |
3: 59,879,696 (GRCm39) |
|
noncoding transcript |
Het |
Gosr2 |
G |
A |
11: 103,570,076 (GRCm39) |
Q162* |
probably null |
Het |
Hectd4 |
T |
A |
5: 121,487,593 (GRCm39) |
H3529Q |
possibly damaging |
Het |
Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
Kmt2c |
A |
T |
5: 25,495,525 (GRCm39) |
I4074K |
probably damaging |
Het |
Ly6g2 |
G |
A |
15: 75,089,569 (GRCm39) |
G26R |
probably damaging |
Het |
Map3k11 |
A |
G |
19: 5,747,429 (GRCm39) |
D555G |
probably benign |
Het |
Mindy2 |
A |
G |
9: 70,538,312 (GRCm39) |
I341T |
probably damaging |
Het |
Mrnip |
G |
A |
11: 50,067,718 (GRCm39) |
|
probably null |
Het |
Muc5b |
G |
A |
7: 141,412,844 (GRCm39) |
C1930Y |
unknown |
Het |
Nfatc3 |
T |
G |
8: 106,805,482 (GRCm39) |
I109S |
probably damaging |
Het |
Npas1 |
G |
T |
7: 16,208,541 (GRCm39) |
A112D |
probably benign |
Het |
Npffr2 |
T |
A |
5: 89,715,925 (GRCm39) |
I84N |
probably damaging |
Het |
Nxph4 |
T |
A |
10: 127,362,465 (GRCm39) |
H142L |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,378,294 (GRCm39) |
|
probably benign |
Het |
Per3 |
A |
G |
4: 151,093,705 (GRCm39) |
|
probably null |
Het |
Pigr |
G |
A |
1: 130,769,540 (GRCm39) |
R117Q |
possibly damaging |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,160,108 (GRCm39) |
|
probably benign |
Het |
Sall4 |
G |
A |
2: 168,594,555 (GRCm39) |
P420L |
probably benign |
Het |
Sap30bp |
A |
G |
11: 115,855,046 (GRCm39) |
K252R |
probably damaging |
Het |
Sec63 |
T |
A |
10: 42,703,914 (GRCm39) |
Y692* |
probably null |
Het |
Sema3e |
C |
T |
5: 14,260,390 (GRCm39) |
T181M |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,540,464 (GRCm39) |
I986V |
probably benign |
Het |
Shisa4 |
A |
T |
1: 135,299,700 (GRCm39) |
Y194* |
probably null |
Het |
Slc17a6 |
G |
A |
7: 51,311,333 (GRCm39) |
|
probably benign |
Het |
Smg1 |
T |
G |
7: 117,765,190 (GRCm39) |
|
probably null |
Het |
Smim7 |
C |
T |
8: 73,324,849 (GRCm39) |
G9R |
probably damaging |
Het |
Spata31d1d |
C |
T |
13: 59,874,311 (GRCm39) |
G1075R |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,302,771 (GRCm39) |
|
probably benign |
Het |
Tbce |
A |
G |
13: 14,184,227 (GRCm39) |
I217T |
possibly damaging |
Het |
Tpk1 |
G |
A |
6: 43,588,284 (GRCm39) |
P27S |
probably benign |
Het |
Tsc22d1 |
A |
G |
14: 76,655,797 (GRCm39) |
I2V |
probably benign |
Het |
Tulp4 |
T |
G |
17: 6,283,490 (GRCm39) |
V1173G |
possibly damaging |
Het |
Uchl1 |
T |
C |
5: 66,834,417 (GRCm39) |
|
probably null |
Het |
Ugt2b38 |
T |
A |
5: 87,571,492 (GRCm39) |
Q180L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGACACCAACCGTTCCACTTACG -3'
(R):5'- AGGACCCTTCCTACTACCAAATGGC -3'
Sequencing Primer
(F):5'- CCACTTGAGCTTCAGGGATG -3'
(R):5'- TCCTACTACCAAATGGCAGCTTG -3'
|
Posted On |
2014-05-23 |