Incidental Mutation 'IGL03286:Fchsd2'
| ID |
415745 |
| 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: 0.224)
|
| Stock # |
IGL03286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100757836-100933613 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 100908982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032931]
[ENSMUST00000098250]
[ENSMUST00000207740]
|
| AlphaFold |
Q3USJ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032931
|
| SMART Domains |
Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
| 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 null
Transcript: ENSMUST00000098250
|
| SMART Domains |
Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
| 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 |
probably benign
Transcript: ENSMUST00000207740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208917
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
G |
A |
1: 58,088,543 (GRCm39) |
G110S |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,170,816 (GRCm39) |
S1548P |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,005,397 (GRCm39) |
D147G |
probably benign |
Het |
| Calcoco2 |
A |
G |
11: 95,994,098 (GRCm39) |
V116A |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,469,952 (GRCm39) |
M1842L |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,490 (GRCm39) |
D73G |
probably damaging |
Het |
| Ctnna1 |
A |
G |
18: 35,308,206 (GRCm39) |
I175M |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,060,068 (GRCm39) |
Y2839N |
probably damaging |
Het |
| Dph7 |
T |
A |
2: 24,856,628 (GRCm39) |
H193Q |
probably damaging |
Het |
| Eif2b5 |
A |
G |
16: 20,321,012 (GRCm39) |
D258G |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,826,762 (GRCm39) |
D630G |
probably damaging |
Het |
| Ext2 |
C |
T |
2: 93,537,617 (GRCm39) |
V590M |
probably damaging |
Het |
| Gm13272 |
A |
G |
4: 88,698,586 (GRCm39) |
Q167R |
probably benign |
Het |
| Gm21834 |
A |
G |
17: 58,048,922 (GRCm39) |
V98A |
possibly damaging |
Het |
| Grid1 |
T |
A |
14: 35,242,642 (GRCm39) |
|
probably benign |
Het |
| H2-DMa |
T |
A |
17: 34,356,083 (GRCm39) |
|
probably null |
Het |
| Ighv5-17 |
T |
G |
12: 113,822,797 (GRCm39) |
E108A |
possibly damaging |
Het |
| Invs |
A |
G |
4: 48,382,261 (GRCm39) |
T144A |
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,334,816 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,119,706 (GRCm39) |
Y504F |
probably damaging |
Het |
| Krt5 |
A |
G |
15: 101,615,983 (GRCm39) |
F544S |
unknown |
Het |
| Larp4 |
A |
G |
15: 99,883,967 (GRCm39) |
Y67C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,990,095 (GRCm39) |
M261T |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,382,274 (GRCm39) |
C1367S |
probably benign |
Het |
| Nox4 |
T |
A |
7: 87,019,349 (GRCm39) |
|
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,975,732 (GRCm39) |
|
probably null |
Het |
| Or5b98 |
A |
C |
19: 12,931,532 (GRCm39) |
Y193S |
probably benign |
Het |
| Or6p1 |
A |
C |
1: 174,258,743 (GRCm39) |
I250L |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,091,040 (GRCm39) |
|
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,411,925 (GRCm39) |
G36S |
possibly damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,361,658 (GRCm39) |
S262P |
possibly damaging |
Het |
| Pnpla6 |
C |
A |
8: 3,581,473 (GRCm39) |
T582K |
probably damaging |
Het |
| Rap1b |
A |
T |
10: 117,654,480 (GRCm39) |
L120* |
probably null |
Het |
| Rft1 |
C |
T |
14: 30,383,323 (GRCm39) |
T121I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,107,920 (GRCm39) |
I1613T |
probably damaging |
Het |
| Slc47a2 |
T |
G |
11: 61,233,293 (GRCm39) |
E79A |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,619,928 (GRCm39) |
I85V |
probably null |
Het |
| Slfn8 |
A |
T |
11: 82,904,294 (GRCm39) |
F365L |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,668,853 (GRCm39) |
|
probably benign |
Het |
| Sntb1 |
T |
C |
15: 55,655,442 (GRCm39) |
D258G |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,332,858 (GRCm39) |
I520T |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,797,860 (GRCm39) |
S1896P |
probably damaging |
Het |
| Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,881,283 (GRCm39) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,662,067 (GRCm39) |
|
probably benign |
Het |
| Tchhl1 |
C |
T |
3: 93,378,430 (GRCm39) |
A378V |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,352,760 (GRCm39) |
F1012Y |
probably damaging |
Het |
| Tuba8 |
A |
G |
6: 121,199,913 (GRCm39) |
D199G |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,468 (GRCm39) |
T151S |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,346,654 (GRCm39) |
I2965T |
probably damaging |
Het |
| Zfp688 |
T |
A |
7: 127,018,703 (GRCm39) |
M141L |
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 |
|
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 |
|
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