Incidental Mutation 'IGL01384:Fsd1'
ID |
278329 |
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 # |
IGL01384
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56293509-56303881 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 56303733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 491
(S491F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000011733
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011733]
[ENSMUST00000043785]
|
AlphaFold |
Q7TPM6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000011733
AA Change: S491F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000011733 Gene: ENSMUSG00000011589 AA Change: S491F
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 |
4932414N04Rik |
A |
G |
2: 68,575,749 (GRCm39) |
R683G |
possibly damaging |
Het |
Abca9 |
A |
G |
11: 110,036,463 (GRCm39) |
S549P |
probably damaging |
Het |
Adgrd1 |
T |
C |
5: 129,174,273 (GRCm39) |
S17P |
possibly damaging |
Het |
Ankrd36 |
C |
A |
11: 5,578,348 (GRCm39) |
H546N |
probably benign |
Het |
Aopep |
C |
T |
13: 63,338,290 (GRCm39) |
|
probably benign |
Het |
Bivm |
T |
G |
1: 44,165,907 (GRCm39) |
I119S |
possibly damaging |
Het |
Ccdc88a |
G |
T |
11: 29,453,915 (GRCm39) |
D1693Y |
probably damaging |
Het |
Clcn6 |
G |
A |
4: 148,103,423 (GRCm39) |
R242C |
probably damaging |
Het |
Clec4a2 |
A |
C |
6: 123,104,947 (GRCm39) |
K79T |
probably damaging |
Het |
Cspp1 |
G |
A |
1: 10,186,905 (GRCm39) |
R129H |
probably damaging |
Het |
Cyp2c40 |
A |
T |
19: 39,801,027 (GRCm39) |
M47K |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 49,990,401 (GRCm39) |
D280G |
probably benign |
Het |
Fbxo38 |
A |
G |
18: 62,655,487 (GRCm39) |
S400P |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,305,242 (GRCm39) |
I184M |
probably benign |
Het |
Gm9949 |
A |
T |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
Grtp1 |
A |
T |
8: 13,229,629 (GRCm39) |
V253E |
probably damaging |
Het |
Irag1 |
A |
G |
7: 110,525,708 (GRCm39) |
V148A |
possibly damaging |
Het |
Lamb1 |
T |
A |
12: 31,370,930 (GRCm39) |
M1327K |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,313,846 (GRCm39) |
D2295V |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,284,156 (GRCm39) |
D3874G |
probably null |
Het |
Muc5b |
A |
T |
7: 141,400,555 (GRCm39) |
I509F |
unknown |
Het |
Mug1 |
A |
C |
6: 121,826,433 (GRCm39) |
|
probably benign |
Het |
Myh7 |
A |
T |
14: 55,208,916 (GRCm39) |
L1903Q |
probably damaging |
Het |
Mylk |
G |
T |
16: 34,759,322 (GRCm39) |
A1229S |
probably benign |
Het |
Myorg |
G |
T |
4: 41,498,151 (GRCm39) |
A493E |
probably damaging |
Het |
Ncam1 |
A |
T |
9: 49,421,152 (GRCm39) |
I721N |
possibly damaging |
Het |
Or8b101 |
T |
A |
9: 38,020,858 (GRCm39) |
I287N |
probably damaging |
Het |
Pla2g2c |
A |
G |
4: 138,471,012 (GRCm39) |
K131R |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 92,000,268 (GRCm39) |
I557N |
probably benign |
Het |
Sirpb1b |
T |
A |
3: 15,613,789 (GRCm39) |
N98Y |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,872,365 (GRCm39) |
V1182A |
probably benign |
Het |
Tagap1 |
T |
C |
17: 7,224,282 (GRCm39) |
D138G |
probably benign |
Het |
Tiam2 |
T |
A |
17: 3,477,477 (GRCm39) |
F567I |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,285,425 (GRCm39) |
D1987V |
possibly damaging |
Het |
Vmn1r36 |
A |
T |
6: 66,693,446 (GRCm39) |
I37N |
probably damaging |
Het |
Wif1 |
A |
T |
10: 120,920,855 (GRCm39) |
T226S |
possibly damaging |
Het |
Zfp428 |
A |
G |
7: 24,210,167 (GRCm39) |
D22G |
possibly damaging |
Het |
Zfp521 |
A |
T |
18: 13,976,980 (GRCm39) |
N1144K |
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 |
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 |
|
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 |