Incidental Mutation 'IGL03135:Fsd1'
ID |
410507 |
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 # |
IGL03135
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56293509-56303881 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 56297416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000011733
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011733]
|
AlphaFold |
Q7TPM6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000011733
|
SMART Domains |
Protein: ENSMUSP00000011733 Gene: ENSMUSG00000011589
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apmap |
A |
C |
2: 150,429,035 (GRCm39) |
M196R |
possibly damaging |
Het |
Arhgap27 |
T |
A |
11: 103,229,891 (GRCm39) |
|
probably null |
Het |
Arl8b |
A |
C |
6: 108,795,506 (GRCm39) |
N148T |
probably benign |
Het |
Baz1a |
A |
G |
12: 54,976,375 (GRCm39) |
F434L |
probably damaging |
Het |
Birc2 |
A |
G |
9: 7,849,722 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
C |
A |
16: 95,822,458 (GRCm39) |
R1249I |
probably damaging |
Het |
Cab39l |
T |
C |
14: 59,757,100 (GRCm39) |
F161L |
probably benign |
Het |
Ccr8 |
A |
T |
9: 119,923,689 (GRCm39) |
D268V |
possibly damaging |
Het |
Col25a1 |
A |
T |
3: 130,323,332 (GRCm39) |
|
probably benign |
Het |
Cpn1 |
A |
G |
19: 43,974,693 (GRCm39) |
L12P |
possibly damaging |
Het |
Dnah6 |
A |
G |
6: 73,121,987 (GRCm39) |
I1360T |
probably benign |
Het |
Dnajb8 |
A |
G |
6: 88,200,013 (GRCm39) |
E183G |
probably damaging |
Het |
Dpp8 |
T |
A |
9: 64,960,322 (GRCm39) |
|
probably null |
Het |
Grina |
T |
A |
15: 76,132,162 (GRCm39) |
F28I |
possibly damaging |
Het |
H2-M3 |
G |
A |
17: 37,583,324 (GRCm39) |
D262N |
possibly damaging |
Het |
Hdgfl3 |
G |
A |
7: 81,543,587 (GRCm39) |
T188M |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,805,086 (GRCm39) |
I353T |
probably damaging |
Het |
Lrrc41 |
C |
A |
4: 115,945,728 (GRCm39) |
R148S |
probably benign |
Het |
Lrrc8e |
T |
A |
8: 4,285,776 (GRCm39) |
L667Q |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,912,638 (GRCm39) |
F1641L |
probably benign |
Het |
Naaladl1 |
A |
T |
19: 6,162,386 (GRCm39) |
T443S |
probably benign |
Het |
Naga |
C |
A |
15: 82,214,942 (GRCm39) |
V339F |
probably damaging |
Het |
Nedd4l |
A |
G |
18: 65,338,741 (GRCm39) |
K702E |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,678,381 (GRCm39) |
M529T |
probably damaging |
Het |
Parp8 |
A |
G |
13: 117,047,478 (GRCm39) |
V198A |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,631,588 (GRCm39) |
H461L |
probably benign |
Het |
Ppp6r1 |
T |
C |
7: 4,645,159 (GRCm39) |
D236G |
possibly damaging |
Het |
Psg21 |
T |
C |
7: 18,388,843 (GRCm39) |
D83G |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,546,111 (GRCm39) |
C308R |
probably damaging |
Het |
Ralgds |
T |
A |
2: 28,439,100 (GRCm39) |
S696T |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,033,274 (GRCm39) |
L695Q |
probably damaging |
Het |
Scel |
A |
T |
14: 103,823,950 (GRCm39) |
I393F |
probably benign |
Het |
Serpina3j |
T |
A |
12: 104,281,166 (GRCm39) |
I113N |
probably damaging |
Het |
Slc4a3 |
C |
A |
1: 75,524,579 (GRCm39) |
|
probably benign |
Het |
Slc6a11 |
A |
T |
6: 114,171,570 (GRCm39) |
|
probably null |
Het |
Slc8a3 |
C |
T |
12: 81,249,023 (GRCm39) |
V802M |
probably damaging |
Het |
Smarcal1 |
T |
A |
1: 72,655,660 (GRCm39) |
|
probably null |
Het |
Tmprss11c |
A |
G |
5: 86,385,509 (GRCm39) |
V308A |
probably damaging |
Het |
Trim10 |
A |
G |
17: 37,185,113 (GRCm39) |
R279G |
possibly damaging |
Het |
Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
Trio |
T |
C |
15: 27,832,097 (GRCm39) |
|
probably benign |
Het |
Urgcp |
G |
A |
11: 5,666,091 (GRCm39) |
T749I |
possibly damaging |
Het |
Vmn2r60 |
A |
G |
7: 41,786,018 (GRCm39) |
I274V |
probably benign |
Het |
Vps11 |
A |
G |
9: 44,267,653 (GRCm39) |
F40L |
probably benign |
Het |
Ywhab |
A |
G |
2: 163,857,195 (GRCm39) |
I157V |
probably benign |
Het |
Zfp638 |
G |
A |
6: 83,919,857 (GRCm39) |
R485H |
probably damaging |
Het |
Zfp944 |
A |
G |
17: 22,558,737 (GRCm39) |
I170T |
probably benign |
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 |
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 |
2016-08-02 |