Incidental Mutation 'IGL03009:Foxs1'
ID |
407691 |
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 # |
IGL03009
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
152773818-152775128 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152774849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 68
(H68R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096806
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099200]
|
AlphaFold |
Q61574 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099200
AA Change: H68R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096806 Gene: ENSMUSG00000074676 AA Change: H68R
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adsl |
C |
A |
15: 80,836,444 (GRCm39) |
S67* |
probably null |
Het |
Arrdc4 |
A |
G |
7: 68,389,241 (GRCm39) |
V411A |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,865,794 (GRCm39) |
Y794C |
probably damaging |
Het |
Flt4 |
G |
T |
11: 49,517,951 (GRCm39) |
K330N |
probably benign |
Het |
Gm21969 |
C |
T |
4: 139,334,965 (GRCm39) |
S333L |
probably damaging |
Het |
Gm7008 |
T |
A |
12: 40,273,546 (GRCm39) |
|
probably benign |
Het |
Gmppa |
A |
G |
1: 75,416,014 (GRCm39) |
Y137C |
probably damaging |
Het |
Grwd1 |
A |
G |
7: 45,476,561 (GRCm39) |
|
probably benign |
Het |
Kdm5a |
C |
T |
6: 120,407,047 (GRCm39) |
R1421W |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,894,039 (GRCm39) |
T1749A |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,069,468 (GRCm39) |
|
probably benign |
Het |
Ntng1 |
T |
C |
3: 109,842,018 (GRCm39) |
K252E |
possibly damaging |
Het |
Nup133 |
A |
G |
8: 124,660,239 (GRCm39) |
I353T |
possibly damaging |
Het |
Or51ab3 |
C |
A |
7: 103,201,734 (GRCm39) |
C247* |
probably null |
Het |
Osbpl11 |
T |
C |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
Pcsk9 |
C |
T |
4: 106,311,542 (GRCm39) |
G230S |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,967,988 (GRCm39) |
N1127S |
probably damaging |
Het |
Rasgrf1 |
A |
T |
9: 89,873,756 (GRCm39) |
K688N |
possibly damaging |
Het |
Rhot1 |
A |
G |
11: 80,111,080 (GRCm39) |
|
probably null |
Het |
Rims2 |
A |
T |
15: 39,430,393 (GRCm39) |
Q1159L |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 52,022,003 (GRCm39) |
I594V |
probably benign |
Het |
Slc43a2 |
G |
A |
11: 75,463,202 (GRCm39) |
C536Y |
probably benign |
Het |
Stip1 |
A |
T |
19: 6,998,489 (GRCm39) |
V537E |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Vav1 |
A |
T |
17: 57,603,582 (GRCm39) |
T94S |
probably benign |
Het |
Zfr |
A |
T |
15: 12,162,321 (GRCm39) |
I824F |
probably damaging |
Het |
|
Other mutations in Foxs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01641:Foxs1
|
APN |
2 |
152,774,232 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
2016-08-02 |