Incidental Mutation 'IGL01387:Fsd1'
| ID |
278331 |
| 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 # |
IGL01387
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,835,596 (GRCm39) |
I288T |
possibly damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,247,794 (GRCm39) |
|
probably null |
Het |
| Ano2 |
T |
C |
6: 125,990,240 (GRCm39) |
L787P |
probably damaging |
Het |
| Arf4 |
A |
T |
14: 26,374,300 (GRCm39) |
I73F |
possibly damaging |
Het |
| Atp6v1e1 |
A |
G |
6: 120,772,732 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
A |
C |
7: 16,018,424 (GRCm39) |
M1R |
probably null |
Het |
| Cep162 |
A |
G |
9: 87,093,864 (GRCm39) |
L838S |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,421,609 (GRCm39) |
I654N |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,668,562 (GRCm39) |
|
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,927,110 (GRCm39) |
T107A |
probably benign |
Het |
| Erlin2 |
T |
C |
8: 27,526,576 (GRCm39) |
L312P |
probably benign |
Het |
| Etv1 |
T |
G |
12: 38,911,326 (GRCm39) |
M384R |
probably damaging |
Het |
| Exph5 |
G |
T |
9: 53,285,265 (GRCm39) |
S782I |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,823,326 (GRCm39) |
N6353S |
possibly damaging |
Het |
| Gk5 |
T |
C |
9: 96,059,607 (GRCm39) |
|
probably null |
Het |
| Gm11168 |
T |
G |
9: 3,005,128 (GRCm39) |
S202R |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,341,310 (GRCm39) |
D1016G |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 69,009,590 (GRCm39) |
|
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,096 (GRCm39) |
V387A |
possibly damaging |
Het |
| Or4a76 |
T |
A |
2: 89,460,964 (GRCm39) |
R93* |
probably null |
Het |
| Or5bw2 |
A |
G |
7: 6,573,854 (GRCm39) |
Y288C |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,710 (GRCm39) |
M160K |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,617 (GRCm39) |
L115S |
probably damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,594 (GRCm39) |
T153A |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,459,403 (GRCm39) |
Q51R |
probably benign |
Het |
| Rab27b |
T |
A |
18: 70,118,380 (GRCm39) |
D179V |
possibly damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,631 (GRCm39) |
R924H |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,045,998 (GRCm39) |
I905T |
probably damaging |
Het |
| Trpm8 |
T |
C |
1: 88,271,009 (GRCm39) |
L433P |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,554,649 (GRCm39) |
L1861S |
possibly damaging |
Het |
| Vmn2r124 |
C |
A |
17: 18,283,188 (GRCm39) |
T294K |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,288,656 (GRCm39) |
C37* |
probably null |
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 |
|
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 |
Incidental Mutation