Incidental Mutation 'R5738:Fscn3'
ID |
444621 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fscn3
|
Ensembl Gene |
ENSMUSG00000029707 |
Gene Name |
fascin actin-bundling protein 3 |
Synonyms |
|
MMRRC Submission |
043350-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R5738 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
28427888-28438621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28430030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 67
(K67E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031719
(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 |
possibly damaging
Transcript: ENSMUST00000031719
AA Change: K67E
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031719 Gene: ENSMUSG00000029707 AA Change: K67E
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 |
|
Meta Mutation Damage Score |
0.4472 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,571,917 (GRCm39) |
D4826V |
probably damaging |
Het |
Acoxl |
G |
A |
2: 127,719,686 (GRCm39) |
C149Y |
probably benign |
Het |
Adamts3 |
G |
T |
5: 89,856,527 (GRCm39) |
H349N |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,227,256 (GRCm39) |
|
probably null |
Het |
Ap3m2 |
T |
C |
8: 23,293,877 (GRCm39) |
S58G |
possibly damaging |
Het |
Bhmt2 |
A |
T |
13: 93,799,798 (GRCm39) |
W213R |
probably benign |
Het |
Cacna1h |
T |
G |
17: 25,606,023 (GRCm39) |
D1092A |
probably damaging |
Het |
Cbfb |
A |
C |
8: 105,929,193 (GRCm39) |
Q170P |
probably damaging |
Het |
Ccdc73 |
A |
C |
2: 104,761,331 (GRCm39) |
K110N |
possibly damaging |
Het |
Cep350 |
C |
A |
1: 155,741,824 (GRCm39) |
R2149L |
probably damaging |
Het |
Cog2 |
A |
G |
8: 125,272,777 (GRCm39) |
T525A |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Fbxl5 |
A |
G |
5: 43,920,170 (GRCm39) |
I251T |
probably benign |
Het |
Glmp |
T |
A |
3: 88,233,445 (GRCm39) |
N133K |
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,242,232 (GRCm39) |
N204S |
probably damaging |
Het |
Gtf2ird1 |
C |
T |
5: 134,412,672 (GRCm39) |
R613Q |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,294,721 (GRCm39) |
D285G |
possibly damaging |
Het |
Hipk4 |
G |
A |
7: 27,227,841 (GRCm39) |
V196M |
probably damaging |
Het |
Hlx |
A |
T |
1: 184,463,754 (GRCm39) |
|
probably null |
Het |
Igf2r |
A |
T |
17: 12,936,254 (GRCm39) |
D597E |
probably benign |
Het |
Ighm |
T |
C |
12: 113,385,115 (GRCm39) |
T282A |
unknown |
Het |
Igsf9b |
T |
C |
9: 27,239,826 (GRCm39) |
C624R |
probably damaging |
Het |
Ksr2 |
T |
C |
5: 117,886,864 (GRCm39) |
V800A |
probably damaging |
Het |
Lyn |
A |
T |
4: 3,782,987 (GRCm39) |
I386F |
probably damaging |
Het |
Melk |
A |
G |
4: 44,310,333 (GRCm39) |
D102G |
probably damaging |
Het |
Mettl1 |
G |
T |
10: 126,877,863 (GRCm39) |
E4* |
probably null |
Het |
Mybl2 |
C |
T |
2: 162,910,203 (GRCm39) |
Q210* |
probably null |
Het |
Naga |
C |
T |
15: 82,219,054 (GRCm39) |
W231* |
probably null |
Het |
Or2y3 |
T |
C |
17: 38,393,347 (GRCm39) |
Y174C |
probably damaging |
Het |
Or4k2 |
C |
T |
14: 50,424,105 (GRCm39) |
V190I |
probably benign |
Het |
Or7g16 |
T |
C |
9: 18,727,125 (GRCm39) |
N155S |
possibly damaging |
Het |
Otud4 |
T |
C |
8: 80,400,090 (GRCm39) |
S935P |
probably benign |
Het |
P2rx7 |
C |
T |
5: 122,790,852 (GRCm39) |
T63I |
probably damaging |
Het |
Pga5 |
A |
T |
19: 10,647,024 (GRCm39) |
N260K |
probably benign |
Het |
Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
Plch1 |
T |
A |
3: 63,681,076 (GRCm39) |
R184W |
probably damaging |
Het |
Ppm1b |
T |
C |
17: 85,301,374 (GRCm39) |
F85L |
probably benign |
Het |
Prtg |
T |
A |
9: 72,819,288 (GRCm39) |
F1094I |
probably benign |
Het |
Ralgds |
G |
A |
2: 28,432,538 (GRCm39) |
|
probably benign |
Het |
Rgs17 |
A |
C |
10: 5,783,140 (GRCm39) |
V149G |
probably damaging |
Het |
Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
Sav1 |
T |
C |
12: 70,022,817 (GRCm39) |
E245G |
possibly damaging |
Het |
Slc25a19 |
T |
C |
11: 115,515,060 (GRCm39) |
I33V |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,095,941 (GRCm39) |
I318V |
probably damaging |
Het |
Tas2r136 |
A |
G |
6: 132,754,707 (GRCm39) |
L140P |
probably damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,997,655 (GRCm39) |
I1071V |
probably benign |
Het |
Tecta |
G |
T |
9: 42,284,474 (GRCm39) |
N870K |
possibly damaging |
Het |
Tmem230 |
G |
A |
2: 132,086,048 (GRCm39) |
P38L |
possibly damaging |
Het |
Trpa1 |
G |
T |
1: 14,946,174 (GRCm39) |
H986N |
probably damaging |
Het |
Wdr41 |
A |
T |
13: 95,114,996 (GRCm39) |
I24L |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACATTCATAGCAAGGAGATGC -3'
(R):5'- TGGTAAGCTGAAAGAACCCTGG -3'
Sequencing Primer
(F):5'- TGCCAAGGAGATGGAGATATGG -3'
(R):5'- TGGAGTTGCAGAATACATCCTCC -3'
|
Posted On |
2016-11-21 |