Incidental Mutation 'R8285:Fchsd2'
| ID |
638419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd2
|
| Ensembl Gene |
ENSMUSG00000030691 |
| Gene Name |
FCH and double SH3 domains 2 |
| Synonyms |
Sh3md3 |
| MMRRC Submission |
067653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R8285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
100757836-100933613 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100883128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 252
(F252S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032931]
[ENSMUST00000098250]
|
| AlphaFold |
Q3USJ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032931
AA Change: F252S
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: F252S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
21 |
103 |
1.3e-22 |
PFAM |
|
coiled coil region
|
379 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
474 |
N/A |
INTRINSIC |
|
SH3
|
496 |
553 |
2.39e-14 |
SMART |
|
low complexity region
|
554 |
569 |
N/A |
INTRINSIC |
|
SH3
|
594 |
652 |
1.22e-20 |
SMART |
|
low complexity region
|
676 |
695 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098250
AA Change: F252S
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: F252S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
108 |
3.6e-23 |
PFAM |
|
coiled coil region
|
355 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
450 |
N/A |
INTRINSIC |
|
SH3
|
472 |
529 |
2.39e-14 |
SMART |
|
low complexity region
|
530 |
545 |
N/A |
INTRINSIC |
|
SH3
|
570 |
628 |
1.22e-20 |
SMART |
|
low complexity region
|
652 |
671 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,904,079 (GRCm39) |
I206T |
probably damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,390 (GRCm39) |
L71P |
probably damaging |
Het |
| Bcar3 |
A |
T |
3: 122,306,383 (GRCm39) |
I468F |
probably benign |
Het |
| Ddi1 |
T |
A |
9: 6,265,808 (GRCm39) |
Q187L |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,865,566 (GRCm39) |
N139D |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,016,348 (GRCm39) |
I592N |
probably damaging |
Het |
| Gad2 |
T |
A |
2: 22,514,940 (GRCm39) |
N139K |
probably benign |
Het |
| Gm12695 |
G |
A |
4: 96,657,990 (GRCm39) |
R60W |
possibly damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,657,556 (GRCm39) |
V224A |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,239,974 (GRCm39) |
D514G |
probably benign |
Het |
| Igsf23 |
T |
C |
7: 19,675,881 (GRCm39) |
D113G |
possibly damaging |
Het |
| Inhbc |
T |
C |
10: 127,206,010 (GRCm39) |
T86A |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,659,540 (GRCm39) |
S431P |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 65,019,825 (GRCm39) |
H1398R |
probably benign |
Het |
| Lce1f |
T |
C |
3: 92,626,238 (GRCm39) |
S140G |
unknown |
Het |
| Mapt |
T |
A |
11: 104,189,628 (GRCm39) |
D215E |
probably benign |
Het |
| Maz |
T |
C |
7: 126,624,644 (GRCm39) |
Y292C |
possibly damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,688,393 (GRCm39) |
M351V |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,554,273 (GRCm39) |
P4007S |
unknown |
Het |
| Or4k47 |
A |
T |
2: 111,452,390 (GRCm39) |
S10T |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,988,176 (GRCm39) |
T110I |
probably benign |
Het |
| Or5t9 |
T |
C |
2: 86,659,443 (GRCm39) |
F116L |
probably benign |
Het |
| Ppp3ca |
A |
G |
3: 136,587,205 (GRCm39) |
D229G |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,520,636 (GRCm39) |
D293E |
probably benign |
Het |
| Rab39 |
A |
T |
9: 53,617,231 (GRCm39) |
I62N |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,162,949 (GRCm39) |
E385G |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,227,404 (GRCm39) |
S340P |
unknown |
Het |
| Scpep1 |
A |
G |
11: 88,843,293 (GRCm39) |
L55P |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,249,104 (GRCm39) |
L785P |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,418,540 (GRCm39) |
V239E |
possibly damaging |
Het |
| Usf3 |
T |
C |
16: 44,041,207 (GRCm39) |
S1896P |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,466,916 (GRCm39) |
T2383I |
probably benign |
Het |
|
| Other mutations in Fchsd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Fchsd2
|
APN |
7 |
100,920,829 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL00910:Fchsd2
|
APN |
7 |
100,926,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02065:Fchsd2
|
APN |
7 |
100,826,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02545:Fchsd2
|
APN |
7 |
100,847,715 (GRCm39) |
missense |
probably benign |
|
|
IGL02651:Fchsd2
|
APN |
7 |
100,926,807 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03286:Fchsd2
|
APN |
7 |
100,908,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03333:Fchsd2
|
APN |
7 |
100,847,703 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0066:Fchsd2
|
UTSW |
7 |
100,927,631 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0066:Fchsd2
|
UTSW |
7 |
100,927,631 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0668:Fchsd2
|
UTSW |
7 |
100,846,127 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1281:Fchsd2
|
UTSW |
7 |
100,902,759 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1868:Fchsd2
|
UTSW |
7 |
100,899,645 (GRCm39) |
splice site |
probably benign |
|
|
R1996:Fchsd2
|
UTSW |
7 |
100,927,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2024:Fchsd2
|
UTSW |
7 |
100,847,740 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2060:Fchsd2
|
UTSW |
7 |
100,926,624 (GRCm39) |
missense |
probably benign |
|
|
R2243:Fchsd2
|
UTSW |
7 |
100,883,092 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3419:Fchsd2
|
UTSW |
7 |
100,927,867 (GRCm39) |
splice site |
probably null |
|
|
R3898:Fchsd2
|
UTSW |
7 |
100,841,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3899:Fchsd2
|
UTSW |
7 |
100,841,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3900:Fchsd2
|
UTSW |
7 |
100,841,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4496:Fchsd2
|
UTSW |
7 |
100,931,702 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4569:Fchsd2
|
UTSW |
7 |
100,926,809 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4667:Fchsd2
|
UTSW |
7 |
100,899,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Fchsd2
|
UTSW |
7 |
100,920,781 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5449:Fchsd2
|
UTSW |
7 |
100,926,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Fchsd2
|
UTSW |
7 |
100,920,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Fchsd2
|
UTSW |
7 |
100,759,991 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5894:Fchsd2
|
UTSW |
7 |
100,840,959 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5936:Fchsd2
|
UTSW |
7 |
100,840,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Fchsd2
|
UTSW |
7 |
100,921,016 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6244:Fchsd2
|
UTSW |
7 |
100,908,983 (GRCm39) |
splice site |
probably null |
|
|
R6247:Fchsd2
|
UTSW |
7 |
100,902,747 (GRCm39) |
missense |
probably benign |
|
|
R6932:Fchsd2
|
UTSW |
7 |
100,926,621 (GRCm39) |
nonsense |
probably null |
|
|
R7250:Fchsd2
|
UTSW |
7 |
100,908,892 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7418:Fchsd2
|
UTSW |
7 |
100,920,831 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7469:Fchsd2
|
UTSW |
7 |
100,927,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7522:Fchsd2
|
UTSW |
7 |
100,908,829 (GRCm39) |
nonsense |
probably null |
|
|
R7921:Fchsd2
|
UTSW |
7 |
100,899,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8209:Fchsd2
|
UTSW |
7 |
100,931,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Fchsd2
|
UTSW |
7 |
100,931,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8400:Fchsd2
|
UTSW |
7 |
100,902,780 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9561:Fchsd2
|
UTSW |
7 |
100,920,778 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9794:Fchsd2
|
UTSW |
7 |
100,893,410 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0028:Fchsd2
|
UTSW |
7 |
100,760,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTCACTGTTCACACGC -3'
(R):5'- CCCATTCTCTCACTTTGTTAAGGAG -3'
Sequencing Primer
(F):5'- ACTGTTCACACGCTCTTATGTAATG -3'
(R):5'- CTTCAGGAAAGAGCTTTAGA -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation