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: 0.239)
|
| Stock # |
IGL03286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101092863-101284405 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 101259775 bp (GRCm38)
|
| 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: 58,049,384 (GRCm38) |
G110S |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,259,520 (GRCm38) |
S1548P |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,077,659 (GRCm38) |
D147G |
probably benign |
Het |
| Calcoco2 |
A |
G |
11: 96,103,272 (GRCm38) |
V116A |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,385,495 (GRCm38) |
M1842L |
probably benign |
Het |
| Comt |
T |
C |
16: 18,411,740 (GRCm38) |
D73G |
probably damaging |
Het |
| Ctnna1 |
A |
G |
18: 35,175,153 (GRCm38) |
I175M |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,083,085 (GRCm38) |
Y2839N |
probably damaging |
Het |
| Dph7 |
T |
A |
2: 24,966,616 (GRCm38) |
H193Q |
probably damaging |
Het |
| Eif2b5 |
A |
G |
16: 20,502,262 (GRCm38) |
D258G |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,860,503 (GRCm38) |
D630G |
probably damaging |
Het |
| Ext2 |
C |
T |
2: 93,707,272 (GRCm38) |
V590M |
probably damaging |
Het |
| Gm13272 |
A |
G |
4: 88,780,349 (GRCm38) |
Q167R |
probably benign |
Het |
| Gm21834 |
A |
G |
17: 57,741,927 (GRCm38) |
V98A |
possibly damaging |
Het |
| Grid1 |
T |
A |
14: 35,520,685 (GRCm38) |
|
probably benign |
Het |
| H2-DMa |
T |
A |
17: 34,137,109 (GRCm38) |
|
probably null |
Het |
| Ighv5-17 |
T |
G |
12: 113,859,177 (GRCm38) |
E108A |
possibly damaging |
Het |
| Invs |
A |
G |
4: 48,382,261 (GRCm38) |
T144A |
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,407,078 (GRCm38) |
|
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,289,362 (GRCm38) |
Y504F |
probably damaging |
Het |
| Krt5 |
A |
G |
15: 101,707,548 (GRCm38) |
F544S |
unknown |
Het |
| Larp4 |
A |
G |
15: 99,986,086 (GRCm38) |
Y67C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,682,667 (GRCm38) |
M261T |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,454,536 (GRCm38) |
C1367S |
probably benign |
Het |
| Nox4 |
T |
A |
7: 87,370,141 (GRCm38) |
|
probably benign |
Het |
| Noxa1 |
A |
G |
2: 25,085,720 (GRCm38) |
|
probably null |
Het |
| Olfr1450 |
A |
C |
19: 12,954,168 (GRCm38) |
Y193S |
probably benign |
Het |
| Olfr414 |
A |
C |
1: 174,431,177 (GRCm38) |
I250L |
probably benign |
Het |
| Pde4d |
T |
A |
13: 109,954,506 (GRCm38) |
|
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,174,476 (GRCm38) |
G36S |
possibly damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,634,347 (GRCm38) |
S262P |
possibly damaging |
Het |
| Pnpla6 |
C |
A |
8: 3,531,473 (GRCm38) |
T582K |
probably damaging |
Het |
| Rap1b |
A |
T |
10: 117,818,575 (GRCm38) |
L120* |
probably null |
Het |
| Rft1 |
C |
T |
14: 30,661,366 (GRCm38) |
T121I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,277,576 (GRCm38) |
I1613T |
probably damaging |
Het |
| Slc47a2 |
T |
G |
11: 61,342,467 (GRCm38) |
E79A |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,580,768 (GRCm38) |
I85V |
probably null |
Het |
| Slfn8 |
A |
T |
11: 83,013,468 (GRCm38) |
F365L |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,778,027 (GRCm38) |
|
probably benign |
Het |
| Sntb1 |
T |
C |
15: 55,792,046 (GRCm38) |
D258G |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,344,414 (GRCm38) |
I520T |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,747,832 (GRCm38) |
S1896P |
probably damaging |
Het |
| Sptlc3 |
G |
A |
2: 139,589,659 (GRCm38) |
G367D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 31,159,326 (GRCm38) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,754,755 (GRCm38) |
|
probably benign |
Het |
| Tchhl1 |
C |
T |
3: 93,471,123 (GRCm38) |
A378V |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,375,778 (GRCm38) |
F1012Y |
probably damaging |
Het |
| Tuba8 |
A |
G |
6: 121,222,954 (GRCm38) |
D199G |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,584,206 (GRCm38) |
T151S |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,516,310 (GRCm38) |
I2965T |
probably damaging |
Het |
| Zfp688 |
T |
A |
7: 127,419,531 (GRCm38) |
M141L |
probably benign |
Het |
|
| Other mutations in Fchsd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Fchsd2
|
APN |
7 |
101,271,622 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL00910:Fchsd2
|
APN |
7 |
101,277,626 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02065:Fchsd2
|
APN |
7 |
101,177,222 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02545:Fchsd2
|
APN |
7 |
101,198,508 (GRCm38) |
missense |
probably benign |
|
|
IGL02651:Fchsd2
|
APN |
7 |
101,277,600 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
IGL03333:Fchsd2
|
APN |
7 |
101,198,496 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0066:Fchsd2
|
UTSW |
7 |
101,278,424 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R0066:Fchsd2
|
UTSW |
7 |
101,278,424 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R0668:Fchsd2
|
UTSW |
7 |
101,196,920 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1281:Fchsd2
|
UTSW |
7 |
101,253,552 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1868:Fchsd2
|
UTSW |
7 |
101,250,438 (GRCm38) |
splice site |
probably benign |
|
|
R1996:Fchsd2
|
UTSW |
7 |
101,278,453 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2024:Fchsd2
|
UTSW |
7 |
101,198,533 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2060:Fchsd2
|
UTSW |
7 |
101,277,417 (GRCm38) |
missense |
probably benign |
|
|
R2243:Fchsd2
|
UTSW |
7 |
101,233,885 (GRCm38) |
missense |
probably benign |
0.30 |
|
R3419:Fchsd2
|
UTSW |
7 |
101,278,660 (GRCm38) |
splice site |
probably null |
|
|
R3898:Fchsd2
|
UTSW |
7 |
101,191,799 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3899:Fchsd2
|
UTSW |
7 |
101,191,799 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3900:Fchsd2
|
UTSW |
7 |
101,191,799 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4496:Fchsd2
|
UTSW |
7 |
101,282,495 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4569:Fchsd2
|
UTSW |
7 |
101,277,602 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4667:Fchsd2
|
UTSW |
7 |
101,250,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5408:Fchsd2
|
UTSW |
7 |
101,271,574 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5449:Fchsd2
|
UTSW |
7 |
101,277,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5543:Fchsd2
|
UTSW |
7 |
101,271,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5665:Fchsd2
|
UTSW |
7 |
101,110,784 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5894:Fchsd2
|
UTSW |
7 |
101,191,752 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5936:Fchsd2
|
UTSW |
7 |
101,191,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6243:Fchsd2
|
UTSW |
7 |
101,271,809 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R6244:Fchsd2
|
UTSW |
7 |
101,259,776 (GRCm38) |
splice site |
probably null |
|
|
R6247:Fchsd2
|
UTSW |
7 |
101,253,540 (GRCm38) |
missense |
probably benign |
|
|
R6932:Fchsd2
|
UTSW |
7 |
101,277,414 (GRCm38) |
nonsense |
probably null |
|
|
R7250:Fchsd2
|
UTSW |
7 |
101,259,685 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R7418:Fchsd2
|
UTSW |
7 |
101,271,624 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7469:Fchsd2
|
UTSW |
7 |
101,278,656 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7522:Fchsd2
|
UTSW |
7 |
101,259,622 (GRCm38) |
nonsense |
probably null |
|
|
R7921:Fchsd2
|
UTSW |
7 |
101,250,542 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8209:Fchsd2
|
UTSW |
7 |
101,282,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8226:Fchsd2
|
UTSW |
7 |
101,282,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8285:Fchsd2
|
UTSW |
7 |
101,233,921 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8400:Fchsd2
|
UTSW |
7 |
101,253,573 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R9561:Fchsd2
|
UTSW |
7 |
101,271,571 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9794:Fchsd2
|
UTSW |
7 |
101,244,203 (GRCm38) |
missense |
probably benign |
0.09 |
|
X0028:Fchsd2
|
UTSW |
7 |
101,110,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation