Incidental Mutation 'R3889:Fsd1'
ID |
310215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fsd1
|
Ensembl Gene |
ENSMUSG00000011589 |
Gene Name |
fibronectin type 3 and SPRY domain-containing protein |
Synonyms |
|
MMRRC Submission |
040801-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R3889 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56293509-56303881 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56300893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 251
(K251E)
|
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: K251E
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000011733 Gene: ENSMUSG00000011589 AA Change: K251E
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 |
|
Meta Mutation Damage Score |
0.1357 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
94% (51/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
7530416G11Rik |
A |
G |
15: 85,378,292 (GRCm39) |
F117S |
unknown |
Het |
Adamts5 |
A |
G |
16: 85,665,009 (GRCm39) |
W652R |
probably damaging |
Het |
Adamtsl4 |
G |
T |
3: 95,588,167 (GRCm39) |
Q607K |
probably damaging |
Het |
Atm |
T |
C |
9: 53,417,936 (GRCm39) |
|
probably benign |
Het |
Atp6v0a2 |
G |
A |
5: 124,777,203 (GRCm39) |
R168Q |
probably damaging |
Het |
B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
Baiap2l1 |
T |
C |
5: 144,215,345 (GRCm39) |
T387A |
possibly damaging |
Het |
Cct3 |
A |
T |
3: 88,228,334 (GRCm39) |
Q472L |
probably benign |
Het |
Chd3 |
C |
T |
11: 69,250,011 (GRCm39) |
E623K |
probably damaging |
Het |
Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
Dclre1a |
A |
T |
19: 56,533,752 (GRCm39) |
C263S |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
Eif2ak1 |
A |
T |
5: 143,821,479 (GRCm39) |
Q265L |
probably benign |
Het |
Elp1 |
G |
A |
4: 56,759,852 (GRCm39) |
R1138C |
probably damaging |
Het |
Epha3 |
A |
G |
16: 63,431,327 (GRCm39) |
F526L |
probably damaging |
Het |
Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
Fat2 |
C |
A |
11: 55,172,589 (GRCm39) |
G2708V |
probably damaging |
Het |
Fgd6 |
G |
A |
10: 93,925,499 (GRCm39) |
E853K |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
Gjc3 |
T |
A |
5: 137,956,105 (GRCm39) |
N60I |
possibly damaging |
Het |
Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
H6pd |
T |
A |
4: 150,080,230 (GRCm39) |
Y197F |
possibly damaging |
Het |
Hip1r |
C |
T |
5: 124,139,854 (GRCm39) |
R986* |
probably null |
Het |
Igkv9-120 |
A |
G |
6: 68,027,362 (GRCm39) |
D92G |
probably damaging |
Het |
Il6 |
A |
G |
5: 30,223,066 (GRCm39) |
K128E |
possibly damaging |
Het |
Irf4 |
T |
C |
13: 30,945,473 (GRCm39) |
|
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Ltbp2 |
A |
G |
12: 84,831,681 (GRCm39) |
|
probably benign |
Het |
Pcmt1 |
C |
T |
10: 7,524,814 (GRCm39) |
|
probably null |
Het |
Plekhm2 |
C |
T |
4: 141,369,301 (GRCm39) |
|
probably benign |
Het |
Prkca |
C |
T |
11: 107,870,066 (GRCm39) |
G450R |
probably damaging |
Het |
Psme3 |
C |
A |
11: 101,210,282 (GRCm39) |
P82T |
probably damaging |
Het |
Rgs11 |
T |
C |
17: 26,426,561 (GRCm39) |
I262T |
probably damaging |
Het |
Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Serpina1e |
A |
T |
12: 103,917,132 (GRCm39) |
V179E |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,380,777 (GRCm39) |
Q685R |
possibly damaging |
Het |
Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
Slc25a45 |
C |
T |
19: 5,930,661 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
Spen |
A |
G |
4: 141,205,192 (GRCm39) |
V1145A |
unknown |
Het |
Stub1 |
T |
C |
17: 26,050,276 (GRCm39) |
|
probably benign |
Het |
Taar8a |
A |
G |
10: 23,952,923 (GRCm39) |
I176V |
probably benign |
Het |
Tacr2 |
G |
A |
10: 62,100,865 (GRCm39) |
C325Y |
probably damaging |
Het |
Tbc1d17 |
T |
A |
7: 44,495,362 (GRCm39) |
H154L |
probably damaging |
Het |
Tll1 |
A |
T |
8: 64,658,258 (GRCm39) |
C54S |
possibly damaging |
Het |
Tpsb2 |
G |
A |
17: 25,586,457 (GRCm39) |
V181I |
probably damaging |
Het |
Trak1 |
A |
G |
9: 121,274,939 (GRCm39) |
N146S |
probably null |
Het |
Vmn1r177 |
T |
C |
7: 23,565,289 (GRCm39) |
I196V |
possibly damaging |
Het |
Zfp820 |
T |
C |
17: 22,037,877 (GRCm39) |
I484V |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGGCGAGACTTGGTGTC -3'
(R):5'- GTTCCCTAGCAGCTAGAGTG -3'
Sequencing Primer
(F):5'- ACCTGCTGCTCTTACAGAGGAC -3'
(R):5'- CTAGCAGCTAGAGTGACCAGGTC -3'
|
Posted On |
2015-04-17 |