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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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