Incidental Mutation 'IGL03380:Fsd1'
ID |
420666 |
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: 0.317)
|
Stock # |
IGL03380
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56293509-56303881 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56302456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 300
(I300T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000011733
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011733]
[ENSMUST00000043785]
|
AlphaFold |
Q7TPM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000011733
AA Change: I300T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000011733 Gene: ENSMUSG00000011589 AA Change: I300T
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
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 |
|
IGL02515:Fsd1
|
APN |
17 |
56,303,303 (GRCm39) |
missense |
probably null |
1.00 |
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 |
|
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 |
2016-08-02 |