Incidental Mutation 'IGL02515:Fsd1'
| ID |
296719 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fsd1
|
| Ensembl Gene |
ENSMUSG00000011589 |
| Gene Name |
fibronectin type 3 and SPRY domain-containing protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
IGL02515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56293509-56303881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56303303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 424
(V424E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011733]
[ENSMUST00000043785]
|
| AlphaFold |
Q7TPM6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000011733
AA Change: V424E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
AA Change: V424E
| Domain | Start | End | E-Value | Type |
|---|
|
BBC
|
4 |
130 |
7.61e-9 |
SMART |
|
FN3
|
165 |
255 |
2.96e-4 |
SMART |
|
Pfam:SPRY
|
355 |
473 |
6.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043785
|
| SMART Domains |
Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
20 |
120 |
1.22e-3 |
SMART |
|
SH2
|
150 |
239 |
2.58e-3 |
SMART |
|
low complexity region
|
278 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
365 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,153,229 (GRCm39) |
D879G |
probably benign |
Het |
| Atp6v0d2 |
A |
T |
4: 19,880,063 (GRCm39) |
F278Y |
possibly damaging |
Het |
| Cip2a |
A |
G |
16: 48,826,096 (GRCm39) |
T388A |
possibly damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,763 (GRCm39) |
|
probably benign |
Het |
| Dpysl4 |
A |
T |
7: 138,676,651 (GRCm39) |
D367V |
probably damaging |
Het |
| E330034G19Rik |
T |
A |
14: 24,348,052 (GRCm39) |
D101E |
possibly damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,378,933 (GRCm39) |
E811K |
probably damaging |
Het |
| Ggt5 |
G |
A |
10: 75,425,604 (GRCm39) |
V21I |
probably benign |
Het |
| Gm5239 |
A |
G |
18: 35,669,787 (GRCm39) |
E51G |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,826,041 (GRCm39) |
S753G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,174,302 (GRCm39) |
Y648F |
probably damaging |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,368,243 (GRCm39) |
D11G |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,876 (GRCm39) |
D88G |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,987,259 (GRCm39) |
R600W |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,767,323 (GRCm39) |
|
probably benign |
Het |
| Or5b116 |
T |
A |
19: 13,422,472 (GRCm39) |
I32N |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,087 (GRCm39) |
T196A |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,113,516 (GRCm39) |
D1323V |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,885,396 (GRCm39) |
R645G |
possibly damaging |
Het |
| Rnf2 |
A |
T |
1: 151,347,446 (GRCm39) |
D137E |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,747,952 (GRCm39) |
H430R |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,653,261 (GRCm39) |
V1534A |
possibly damaging |
Het |
| Stip1 |
T |
C |
19: 6,999,487 (GRCm39) |
T432A |
probably benign |
Het |
| Tnfsf14 |
T |
C |
17: 57,499,600 (GRCm39) |
D84G |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,525 (GRCm39) |
V601A |
probably damaging |
Het |
| Vmn1r215 |
T |
C |
13: 23,259,990 (GRCm39) |
I10T |
probably benign |
Het |
| Vtn |
A |
T |
11: 78,392,480 (GRCm39) |
I353F |
probably damaging |
Het |
|
| Other mutations in Fsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00436:Fsd1
|
APN |
17 |
56,300,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01023:Fsd1
|
APN |
17 |
56,295,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01382:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01383:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01384:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01387:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01561:Fsd1
|
APN |
17 |
56,302,363 (GRCm39) |
missense |
probably benign |
|
|
IGL02065:Fsd1
|
APN |
17 |
56,303,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02172:Fsd1
|
APN |
17 |
56,297,244 (GRCm39) |
splice site |
probably benign |
|
|
IGL02674:Fsd1
|
APN |
17 |
56,303,483 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03135:Fsd1
|
APN |
17 |
56,297,416 (GRCm39) |
splice site |
probably null |
|
|
IGL03380:Fsd1
|
APN |
17 |
56,302,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
Emboldened
|
UTSW |
17 |
56,297,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
1mM(1):Fsd1
|
UTSW |
17 |
56,295,199 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0201:Fsd1
|
UTSW |
17 |
56,297,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0521:Fsd1
|
UTSW |
17 |
56,298,245 (GRCm39) |
missense |
probably benign |
|
|
R0718:Fsd1
|
UTSW |
17 |
56,303,445 (GRCm39) |
splice site |
probably null |
|
|
R1077:Fsd1
|
UTSW |
17 |
56,297,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1519:Fsd1
|
UTSW |
17 |
56,300,870 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1696:Fsd1
|
UTSW |
17 |
56,295,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1867:Fsd1
|
UTSW |
17 |
56,298,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2173:Fsd1
|
UTSW |
17 |
56,298,223 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3889:Fsd1
|
UTSW |
17 |
56,300,893 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3950:Fsd1
|
UTSW |
17 |
56,302,517 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4787:Fsd1
|
UTSW |
17 |
56,303,257 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4912:Fsd1
|
UTSW |
17 |
56,298,241 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4936:Fsd1
|
UTSW |
17 |
56,303,452 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5718:Fsd1
|
UTSW |
17 |
56,297,542 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5749:Fsd1
|
UTSW |
17 |
56,302,849 (GRCm39) |
splice site |
probably null |
|
|
R7077:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7091:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Fsd1
|
UTSW |
17 |
56,303,696 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7174:Fsd1
|
UTSW |
17 |
56,298,356 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7474:Fsd1
|
UTSW |
17 |
56,295,149 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7727:Fsd1
|
UTSW |
17 |
56,295,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8113:Fsd1
|
UTSW |
17 |
56,302,881 (GRCm39) |
missense |
probably benign |
|
|
R9477:Fsd1
|
UTSW |
17 |
56,295,720 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
X0022:Fsd1
|
UTSW |
17 |
56,302,464 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Fsd1
|
UTSW |
17 |
56,298,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Fsd1
|
UTSW |
17 |
56,303,083 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1187:Fsd1
|
UTSW |
17 |
56,300,920 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2015-04-16 |
Incidental Mutation