Incidental Mutation 'R9410:Fscn3'
| ID |
711748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fscn3
|
| Ensembl Gene |
ENSMUSG00000029707 |
| Gene Name |
fascin actin-bundling protein 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R9410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
28427888-28438621 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 28430432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 201
(R201*)
|
| 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 |
probably null
Transcript: ENSMUST00000031719
AA Change: R201*
|
| SMART Domains |
Protein: ENSMUSP00000031719
Gene: ENSMUSG00000029707
AA Change: R201*
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,869,703 (GRCm39) |
S772L |
probably benign |
Het |
| Ampd2 |
A |
T |
3: 107,982,590 (GRCm39) |
V722E |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,106,067 (GRCm39) |
F83Y |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| B020004C17Rik |
A |
T |
14: 57,254,273 (GRCm39) |
Y132F |
possibly damaging |
Het |
| Cnr1 |
A |
G |
4: 33,944,973 (GRCm39) |
T454A |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Ctla4 |
A |
T |
1: 60,951,911 (GRCm39) |
T147S |
probably damaging |
Het |
| Ctsa |
T |
C |
2: 164,677,101 (GRCm39) |
L152P |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,862,293 (GRCm39) |
T225A |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,464,590 (GRCm39) |
I362F |
possibly damaging |
Het |
| Dzank1 |
C |
T |
2: 144,324,050 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
A |
T |
4: 136,386,948 (GRCm39) |
C760S |
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,706,989 (GRCm39) |
V512E |
probably benign |
Het |
| Faiml |
C |
A |
9: 99,111,587 (GRCm39) |
K157N |
probably benign |
Het |
| Fpr2 |
C |
T |
17: 18,113,604 (GRCm39) |
T200I |
probably benign |
Het |
| Hcrtr1 |
A |
T |
4: 130,029,514 (GRCm39) |
L189Q |
probably damaging |
Het |
| Igkv4-62 |
T |
C |
6: 69,376,832 (GRCm39) |
T84A |
probably benign |
Het |
| Krtap2-4 |
C |
A |
11: 99,505,437 (GRCm39) |
R58L |
possibly damaging |
Het |
| Meis1 |
C |
T |
11: 18,833,987 (GRCm39) |
|
probably null |
Het |
| Mfsd2b |
T |
A |
12: 4,915,747 (GRCm39) |
I422F |
probably damaging |
Het |
| Mre11a |
G |
A |
9: 14,716,716 (GRCm39) |
V304M |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,023,496 (GRCm39) |
E19G |
probably damaging |
Het |
| Ndufa10 |
A |
T |
1: 92,367,614 (GRCm39) |
Y339N |
probably damaging |
Het |
| Odad1 |
T |
C |
7: 45,597,821 (GRCm39) |
V577A |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pcdh15 |
CAGAGA |
CAGA |
10: 74,481,663 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
G |
A |
3: 49,699,615 (GRCm39) |
P949L |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,413,995 (GRCm39) |
V210A |
probably benign |
Het |
| Rnf150 |
T |
C |
8: 83,762,722 (GRCm39) |
M319T |
possibly damaging |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
G |
A |
7: 45,071,618 (GRCm39) |
Q422* |
probably null |
Het |
| Shroom1 |
C |
T |
11: 53,354,217 (GRCm39) |
R46C |
probably damaging |
Het |
| Slc22a2 |
T |
C |
17: 12,805,732 (GRCm39) |
F161S |
probably damaging |
Het |
| Src |
T |
A |
2: 157,311,676 (GRCm39) |
M468K |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,297,601 (GRCm39) |
F606L |
possibly damaging |
Het |
| Stau1 |
T |
C |
2: 166,797,038 (GRCm39) |
T120A |
probably benign |
Het |
| Sulf2 |
A |
C |
2: 165,936,444 (GRCm39) |
L174R |
|
Het |
| Sumf1 |
A |
C |
6: 108,150,363 (GRCm39) |
F156C |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,032,396 (GRCm39) |
D708V |
probably damaging |
Het |
| Tmprss12 |
A |
C |
15: 100,190,622 (GRCm39) |
I331L |
possibly damaging |
Het |
| Tnfrsf10b |
T |
G |
14: 70,010,849 (GRCm39) |
C85G |
probably damaging |
Het |
| Trav10d |
C |
A |
14: 53,048,845 (GRCm39) |
Q79K |
probably benign |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,756 (GRCm39) |
Y291* |
probably null |
Het |
| Vmn2r115 |
T |
C |
17: 23,578,915 (GRCm39) |
I796T |
possibly damaging |
Het |
| Zfp189 |
T |
A |
4: 49,529,942 (GRCm39) |
H348Q |
possibly damaging |
Het |
| Zfp563 |
T |
A |
17: 33,321,320 (GRCm39) |
L40Q |
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 |
|
|
R9370:Fscn3
|
UTSW |
6 |
28,434,535 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCACGTGATCCTCTACAG -3'
(R):5'- AGAGGAACCTCCGAGACTTG -3'
Sequencing Primer
(F):5'- GCCCCATCTACCACAGCTATG -3'
(R):5'- AGACTTGGACTTCAGGCTGAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation