Incidental Mutation '0152:Fscn3'
ID |
7 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fscn3
|
Ensembl Gene |
ENSMUSG00000029707 |
Gene Name |
fascin actin-bundling protein 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
0152
of strain
feeble
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
28427888-28438621 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 28429966 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020717]
[ENSMUST00000031719]
[ENSMUST00000064377]
[ENSMUST00000169841]
|
AlphaFold |
Q9QXW4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020717
|
SMART Domains |
Protein: ENSMUSP00000020717 Gene: ENSMUSG00000020440
Domain | Start | End | E-Value | Type |
ARF
|
1 |
180 |
5.83e-121 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031719
|
SMART Domains |
Protein: ENSMUSP00000031719 Gene: ENSMUSG00000029707
Domain | Start | End | E-Value | Type |
Pfam:Fascin
|
24 |
138 |
1e-29 |
PFAM |
SCOP:d1dfca2
|
146 |
260 |
2e-48 |
SMART |
Pfam:Fascin
|
271 |
381 |
2.1e-26 |
PFAM |
SCOP:d1dfca4
|
386 |
498 |
3e-53 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064377
|
SMART Domains |
Protein: ENSMUSP00000067395 Gene: ENSMUSG00000029708
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
61 |
N/A |
INTRINSIC |
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
low complexity region
|
130 |
153 |
N/A |
INTRINSIC |
coiled coil region
|
156 |
315 |
N/A |
INTRINSIC |
low complexity region
|
408 |
418 |
N/A |
INTRINSIC |
low complexity region
|
432 |
443 |
N/A |
INTRINSIC |
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
Blast:H2B
|
492 |
590 |
3e-8 |
BLAST |
low complexity region
|
613 |
631 |
N/A |
INTRINSIC |
coiled coil region
|
659 |
701 |
N/A |
INTRINSIC |
Grip
|
719 |
766 |
8.28e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147036
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169841
|
SMART Domains |
Protein: ENSMUSP00000127281 Gene: ENSMUSG00000020440
Domain | Start | End | E-Value | Type |
ARF
|
1 |
180 |
5.83e-121 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
83% (65/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 6 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
A |
T |
12: 88,397,921 (GRCm39) |
Q185L |
probably benign |
Het |
Per1 |
T |
G |
11: 68,994,848 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
C |
1: 20,593,118 (GRCm39) |
I1665S |
possibly damaging |
Het |
Tnrc6a |
C |
A |
7: 122,779,877 (GRCm39) |
P1303T |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,655,784 (GRCm39) |
Y154H |
probably damaging |
Het |
Zfp952 |
T |
A |
17: 33,222,195 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Fscn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01290:Fscn3
|
APN |
6 |
28,430,505 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01312:Fscn3
|
APN |
6 |
28,434,469 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01634:Fscn3
|
APN |
6 |
28,430,537 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01899:Fscn3
|
APN |
6 |
28,436,078 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01928:Fscn3
|
APN |
6 |
28,430,181 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02334:Fscn3
|
APN |
6 |
28,428,153 (GRCm39) |
splice site |
probably null |
|
IGL02959:Fscn3
|
APN |
6 |
28,435,997 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03201:Fscn3
|
APN |
6 |
28,430,604 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03202:Fscn3
|
APN |
6 |
28,434,451 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03227:Fscn3
|
APN |
6 |
28,434,429 (GRCm39) |
missense |
probably benign |
0.00 |
R1478:Fscn3
|
UTSW |
6 |
28,430,567 (GRCm39) |
missense |
probably benign |
|
R1502:Fscn3
|
UTSW |
6 |
28,435,622 (GRCm39) |
missense |
probably benign |
0.05 |
R1955:Fscn3
|
UTSW |
6 |
28,430,235 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2122:Fscn3
|
UTSW |
6 |
28,430,388 (GRCm39) |
missense |
probably benign |
0.18 |
R2135:Fscn3
|
UTSW |
6 |
28,431,583 (GRCm39) |
missense |
probably benign |
0.02 |
R3713:Fscn3
|
UTSW |
6 |
28,428,091 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3715:Fscn3
|
UTSW |
6 |
28,428,091 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3778:Fscn3
|
UTSW |
6 |
28,430,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4572:Fscn3
|
UTSW |
6 |
28,430,634 (GRCm39) |
splice site |
probably null |
|
R4745:Fscn3
|
UTSW |
6 |
28,435,627 (GRCm39) |
missense |
probably damaging |
0.98 |
R4764:Fscn3
|
UTSW |
6 |
28,436,200 (GRCm39) |
makesense |
probably null |
|
R4794:Fscn3
|
UTSW |
6 |
28,430,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R5738:Fscn3
|
UTSW |
6 |
28,430,030 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5951:Fscn3
|
UTSW |
6 |
28,436,173 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5994:Fscn3
|
UTSW |
6 |
28,430,294 (GRCm39) |
missense |
probably benign |
|
R6595:Fscn3
|
UTSW |
6 |
28,430,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R7323:Fscn3
|
UTSW |
6 |
28,431,544 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7738:Fscn3
|
UTSW |
6 |
28,434,445 (GRCm39) |
missense |
probably benign |
0.01 |
R7840:Fscn3
|
UTSW |
6 |
28,430,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R8169:Fscn3
|
UTSW |
6 |
28,430,328 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8991:Fscn3
|
UTSW |
6 |
28,434,472 (GRCm39) |
missense |
probably benign |
|
R9111:Fscn3
|
UTSW |
6 |
28,430,310 (GRCm39) |
missense |
probably damaging |
0.98 |
R9350:Fscn3
|
UTSW |
6 |
28,430,432 (GRCm39) |
nonsense |
probably null |
|
R9370:Fscn3
|
UTSW |
6 |
28,434,535 (GRCm39) |
missense |
probably benign |
|
R9410:Fscn3
|
UTSW |
6 |
28,430,432 (GRCm39) |
nonsense |
probably null |
|
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified an A to G transition at position 2067 in the Genbank genomic region NC_000072 for the Fscn3 gene on chromosome 6 (ACACCTCCAG->GCACCTCCAG). The mutation is located within intron 1, ten nucleotides upstream from the start of exon 2, and may impair the acceptor splice site of intron 1. The mutation may result in skipping of the 697 nucleotide exon 2, removing 232 amino acids, destroying the reading, and resulting in the insertion of 10 aberrant amino acids before a premature stop codon. Fscn3 contains 7 exons (Figure 1).
<--exon 1 <--intron 1 exon 2--> exon 3-->
251 AGGAGACAG……ACCCTACCAGACCTGGGAG……ATGCTGAGG……AGCGTTTGA 3645
46 -R--R--Q- -T--W--E-……-C--L--R-……-S--V--* 58
correct deleted aberrant
The acceptor splice site of intron 1, which may be impaired by the Fscn3 mutation, is indicated in blue lettering; the mutated nucleotide is indicated in red lettering. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 2).
|
Protein Function and Prediction |
Fscn3 encodes a 498 amino acid protein that is expressed specifically in elongating spermatids and localizes to actin filament sites in the dorsal and ventral spermatid head. Fscn3 has homology to the actin-bundling protein fascin 1 (FSCN1), and may have a role in spermatid remodeling (1). Fascins contain four copies of a domain that is necessary for binding to actin filaments. This domain, known as the fascin-like domain, adopts a β-trefoil topology and contains an internal threefold repeat structurally similar to fibroblast growth factor (FGF) (Figure 3; NCBI pfam06268).
|
References |
1. Tubb, B., Mulholland, D. J., Vogl, W., Lan, Z. J., Niederberger, C., Cooney, A., and Bryan, J. (2002) Testis Fascin (FSCN3): A Novel Paralog of the Actin-Bundling Protein Fascin Expressed Specifically in the Elongate Spermatid Head. Exp. Cell Res. 275, 92-109.
|
Posted On |
2009-10-27 |