Incidental Mutation 'IGL01641:Foxs1'
| ID |
93166 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxs1
|
| Ensembl Gene |
ENSMUSG00000074676 |
| Gene Name |
forkhead box S1 |
| Synonyms |
FREAC10, Fkh3, Fkhl18 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.319)
|
| Stock # |
IGL01641
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152773818-152775128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152774232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 274
(T274A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099200]
|
| AlphaFold |
Q61574 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099200
AA Change: T274A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096806
Gene: ENSMUSG00000074676
AA Change: T274A
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
16 |
106 |
1.88e-60 |
SMART |
|
low complexity region
|
269 |
283 |
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.] The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for one reporter allele display enhanced rotarod performance and increased male resistance to diet-induced obesity. Homozygotes for another reporter allele show impaired testicular vasculature, including blood accumulation in fetal testis and marked apoptosis of periendothelial cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora1 |
A |
G |
1: 134,161,852 (GRCm39) |
L81P |
probably damaging |
Het |
| Agl |
C |
A |
3: 116,578,104 (GRCm39) |
E537* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,784,601 (GRCm39) |
Y103C |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,259,641 (GRCm39) |
K375* |
probably null |
Het |
| Crisp4 |
C |
A |
1: 18,194,514 (GRCm39) |
A160S |
possibly damaging |
Het |
| Gm8220 |
A |
T |
14: 44,525,628 (GRCm39) |
H14L |
probably benign |
Het |
| Irak3 |
T |
C |
10: 120,012,252 (GRCm39) |
I171V |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,115,250 (GRCm39) |
I374T |
probably benign |
Het |
| Or4c10b |
G |
A |
2: 89,711,952 (GRCm39) |
A261T |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,382,575 (GRCm39) |
S27G |
probably damaging |
Het |
| Pcbp3 |
T |
A |
10: 76,603,691 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,950,000 (GRCm39) |
|
probably benign |
Het |
| Prickle1 |
A |
T |
15: 93,398,453 (GRCm39) |
F792I |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,338,854 (GRCm39) |
I40V |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 64,011,924 (GRCm39) |
E595G |
probably benign |
Het |
|
| Other mutations in Foxs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02304:Foxs1
|
APN |
2 |
152,774,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02491:Foxs1
|
APN |
2 |
152,774,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03009:Foxs1
|
APN |
2 |
152,774,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Foxs1
|
UTSW |
2 |
152,774,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0158:Foxs1
|
UTSW |
2 |
152,774,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Foxs1
|
UTSW |
2 |
152,774,607 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1616:Foxs1
|
UTSW |
2 |
152,774,559 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1915:Foxs1
|
UTSW |
2 |
152,774,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3113:Foxs1
|
UTSW |
2 |
152,774,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4885:Foxs1
|
UTSW |
2 |
152,774,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6084:Foxs1
|
UTSW |
2 |
152,774,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6265:Foxs1
|
UTSW |
2 |
152,774,098 (GRCm39) |
nonsense |
probably null |
|
|
R6720:Foxs1
|
UTSW |
2 |
152,774,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6828:Foxs1
|
UTSW |
2 |
152,775,048 (GRCm39) |
nonsense |
probably null |
|
|
R6845:Foxs1
|
UTSW |
2 |
152,774,619 (GRCm39) |
missense |
probably benign |
|
|
R7456:Foxs1
|
UTSW |
2 |
152,775,045 (GRCm39) |
missense |
probably benign |
|
|
R7577:Foxs1
|
UTSW |
2 |
152,774,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7746:Foxs1
|
UTSW |
2 |
152,775,028 (GRCm39) |
missense |
probably benign |
|
|
R7841:Foxs1
|
UTSW |
2 |
152,774,907 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8985:Foxs1
|
UTSW |
2 |
152,775,058 (GRCm39) |
start gained |
probably benign |
|
|
R9603:Foxs1
|
UTSW |
2 |
152,774,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation