Incidental Mutation 'R9370:Fscn3'
ID |
709262 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fscn3
|
Ensembl Gene |
ENSMUSG00000029707 |
Gene Name |
fascin actin-bundling protein 3 |
Synonyms |
|
MMRRC Submission |
068964-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R9370 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
28427888-28438621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28434535 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 370
(V370A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031719]
|
AlphaFold |
Q9QXW4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031719
AA Change: V370A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031719 Gene: ENSMUSG00000029707 AA Change: V370A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1d1 |
T |
A |
6: 37,544,099 (GRCm39) |
*326R |
probably null |
Het |
Cntn5 |
T |
A |
9: 9,833,520 (GRCm39) |
I344F |
probably benign |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Eln |
C |
T |
5: 134,741,476 (GRCm39) |
V563I |
unknown |
Het |
Epb41l5 |
T |
C |
1: 119,561,312 (GRCm39) |
Y83C |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,673,511 (GRCm39) |
D91G |
possibly damaging |
Het |
Gcc2 |
A |
G |
10: 58,131,940 (GRCm39) |
N1550S |
probably benign |
Het |
Gck |
T |
C |
11: 5,852,244 (GRCm39) |
D365G |
possibly damaging |
Het |
Hhatl |
C |
T |
9: 121,617,836 (GRCm39) |
G251E |
possibly damaging |
Het |
Hspa12a |
A |
G |
19: 58,813,708 (GRCm39) |
F139S |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,578,018 (GRCm39) |
D497G |
probably damaging |
Het |
Ino80 |
A |
G |
2: 119,232,848 (GRCm39) |
S1157P |
probably damaging |
Het |
Jmjd6 |
A |
G |
11: 116,729,952 (GRCm39) |
I315T |
probably benign |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lyst |
C |
T |
13: 13,935,333 (GRCm39) |
H3601Y |
probably damaging |
Het |
Mars2 |
T |
C |
1: 55,276,624 (GRCm39) |
S76P |
probably benign |
Het |
Mtmr10 |
A |
G |
7: 63,969,249 (GRCm39) |
E337G |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,760,246 (GRCm39) |
D254G |
possibly damaging |
Het |
Nell1 |
A |
T |
7: 49,770,292 (GRCm39) |
E117V |
probably damaging |
Het |
Pcdhgb7 |
T |
C |
18: 37,884,937 (GRCm39) |
S36P |
possibly damaging |
Het |
Rps6kc1 |
A |
C |
1: 190,531,222 (GRCm39) |
L927V |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,441,080 (GRCm39) |
I1042N |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,481,259 (GRCm39) |
N41D |
possibly damaging |
Het |
Slc5a11 |
A |
G |
7: 122,834,855 (GRCm39) |
T5A |
probably benign |
Het |
Tbc1d22a |
C |
T |
15: 86,123,441 (GRCm39) |
T194I |
probably benign |
Het |
Tmem234 |
T |
A |
4: 129,500,922 (GRCm39) |
V93D |
probably damaging |
Het |
Trim43b |
T |
C |
9: 88,971,559 (GRCm39) |
E199G |
probably benign |
Het |
Ttc24 |
A |
T |
3: 87,980,136 (GRCm39) |
V148E |
probably benign |
Het |
Utp15 |
A |
G |
13: 98,387,119 (GRCm39) |
F434L |
probably damaging |
Het |
Vmn2r81 |
A |
G |
10: 79,104,424 (GRCm39) |
Y349C |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,546,844 (GRCm39) |
V865E |
probably damaging |
Het |
Zfhx3 |
C |
T |
8: 109,521,340 (GRCm39) |
R821C |
probably damaging |
Het |
Zfp90 |
A |
G |
8: 107,145,791 (GRCm39) |
D41G |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,744,148 (GRCm39) |
C835S |
probably damaging |
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 |
0152:Fscn3
|
UTSW |
6 |
28,429,966 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
R9410:Fscn3
|
UTSW |
6 |
28,430,432 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGGGTCCAGGACTGAAAGTG -3'
(R):5'- TCAACTCAGTGCTTCCAACC -3'
Sequencing Primer
(F):5'- GAAAAAGCTGTGGTTGTCATCC -3'
(R):5'- AACACGAGTTCGATCCCTGG -3'
|
Posted On |
2022-04-18 |