Incidental Mutation 'IGL03333:Fchsd2'
| ID |
416915 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fchsd2
|
| Ensembl Gene |
ENSMUSG00000030691 |
| Gene Name |
FCH and double SH3 domains 2 |
| Synonyms |
Sh3md3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
IGL03333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100757836-100933613 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100847703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 198
(S198P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032931]
[ENSMUST00000098250]
[ENSMUST00000208439]
|
| AlphaFold |
Q3USJ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032931
AA Change: S198P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: S198P
| 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 damaging
Transcript: ENSMUST00000098250
AA Change: S198P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: S198P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208439
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,610,932 (GRCm39) |
M893V |
probably benign |
Het |
| Ccdc185 |
C |
A |
1: 182,576,398 (GRCm39) |
G97V |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,597,092 (GRCm39) |
T422A |
possibly damaging |
Het |
| Ckap2l |
A |
C |
2: 129,138,228 (GRCm39) |
|
probably null |
Het |
| Cpa3 |
A |
G |
3: 20,269,992 (GRCm39) |
Y411H |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,385,949 (GRCm39) |
R1011L |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,689,275 (GRCm39) |
K30* |
probably null |
Het |
| Ep400 |
C |
T |
5: 110,851,432 (GRCm39) |
R1350H |
unknown |
Het |
| Epha6 |
T |
C |
16: 59,503,051 (GRCm39) |
D952G |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,191,987 (GRCm39) |
V195L |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,233,660 (GRCm39) |
M324V |
possibly damaging |
Het |
| Gcdh |
T |
C |
8: 85,617,700 (GRCm39) |
T202A |
probably benign |
Het |
| Gm6619 |
G |
A |
6: 131,467,471 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,357,871 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
A |
C |
4: 117,037,833 (GRCm39) |
V31G |
possibly damaging |
Het |
| Kpna7 |
T |
C |
5: 144,942,765 (GRCm39) |
I74V |
possibly damaging |
Het |
| Lvrn |
G |
A |
18: 46,997,731 (GRCm39) |
|
probably benign |
Het |
| Man2b2 |
T |
A |
5: 36,973,483 (GRCm39) |
I499F |
probably damaging |
Het |
| Mmd2 |
G |
T |
5: 142,553,693 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
C |
T |
14: 50,890,855 (GRCm39) |
Q54* |
probably null |
Het |
| Or2r11 |
T |
C |
6: 42,437,773 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6b1 |
T |
A |
6: 42,815,637 (GRCm39) |
I274N |
possibly damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,308 (GRCm39) |
Y193N |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,661,800 (GRCm39) |
S1412P |
probably benign |
Het |
| Prr30 |
A |
T |
14: 101,435,827 (GRCm39) |
V245E |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,267 (GRCm39) |
D458V |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,517,284 (GRCm39) |
L138P |
probably damaging |
Het |
| Sema6d |
C |
A |
2: 124,506,290 (GRCm39) |
H699Q |
possibly damaging |
Het |
| Spata17 |
A |
T |
1: 186,872,667 (GRCm39) |
M1K |
probably null |
Het |
| Tpr |
T |
A |
1: 150,302,718 (GRCm39) |
D1331E |
probably benign |
Het |
| Ttc4 |
A |
G |
4: 106,533,828 (GRCm39) |
Y120H |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,026,654 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
A |
9: 108,371,348 (GRCm39) |
M285K |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,417,177 (GRCm39) |
F12Y |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,075 (GRCm39) |
K325E |
probably benign |
Het |
| Vps33b |
T |
C |
7: 79,923,973 (GRCm39) |
|
probably benign |
Het |
| Zfp784 |
C |
T |
7: 5,039,351 (GRCm39) |
|
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 |
|
|
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 |
|
R8285:Fchsd2
|
UTSW |
7 |
100,883,128 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation