Incidental Mutation 'IGL03046:Foxs1'
ID 391842
Institutional Source Beutler Lab
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 # IGL03046 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 152773818-152775128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152774484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 190 (T190A)
Ref Sequence ENSEMBL: ENSMUSP00000096806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099200]
AlphaFold Q61574
Predicted Effect probably benign
Transcript: ENSMUST00000099200
AA Change: T190A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000096806
Gene: ENSMUSG00000074676
AA Change: T190A

DomainStartEndE-ValueType
FH 16 106 1.88e-60 SMART
low complexity region 269 283 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (54/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,636,282 (GRCm39) M717K probably benign Het
Acad12 C A 5: 121,748,029 (GRCm39) V130L probably benign Het
Cdca2 T C 14: 67,937,471 (GRCm39) probably benign Het
Cfap100 T A 6: 90,389,332 (GRCm39) probably null Het
Cfap43 T A 19: 47,804,302 (GRCm39) E298V probably damaging Het
Cic C T 7: 24,990,500 (GRCm39) P1971S probably damaging Het
Cnga1 T C 5: 72,761,681 (GRCm39) D611G probably benign Het
Daglb C T 5: 143,486,948 (GRCm39) P522L probably damaging Het
Dclre1b A T 3: 103,710,597 (GRCm39) I438K probably benign Het
Ddx5 C A 11: 106,675,871 (GRCm39) R273M probably damaging Het
Eepd1 C T 9: 25,393,981 (GRCm39) L82F probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Exoc6 T C 19: 37,582,217 (GRCm39) probably null Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Gje1 A G 10: 14,592,374 (GRCm39) L136P probably damaging Het
Hdac11 A G 6: 91,145,827 (GRCm39) T176A probably benign Het
Hhip C A 8: 80,698,967 (GRCm39) V700L probably damaging Het
Hps5 T C 7: 46,426,463 (GRCm39) probably benign Het
Itgb1bp1 T C 12: 21,329,436 (GRCm39) S13G unknown Het
Kcna1 A T 6: 126,619,148 (GRCm39) L391M possibly damaging Het
Kif1a C T 1: 93,010,128 (GRCm39) V6M probably damaging Het
Klhl6 T C 16: 19,801,639 (GRCm39) I39V probably benign Het
Lpcat4 C A 2: 112,072,334 (GRCm39) silent Het
Ltn1 A T 16: 87,202,509 (GRCm39) S1047R probably benign Het
Mdn1 A G 4: 32,694,495 (GRCm39) T1073A possibly damaging Het
Megf10 G T 18: 57,421,055 (GRCm39) A898S possibly damaging Het
Mtmr6 T C 14: 60,529,577 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,059 (GRCm39) I333M probably benign Het
Muc5ac G T 7: 141,348,950 (GRCm39) C463F probably benign Het
Mycbpap G T 11: 94,396,543 (GRCm39) T99N possibly damaging Het
Myo7a C T 7: 97,728,534 (GRCm39) C824Y probably damaging Het
N4bp2 A G 5: 65,948,303 (GRCm39) H311R probably damaging Het
Nepro T A 16: 44,552,509 (GRCm39) probably benign Het
Nop56 A T 2: 130,117,489 (GRCm39) probably benign Het
Nup210 A G 6: 90,995,978 (GRCm39) probably benign Het
Or4d10c A G 19: 12,065,391 (GRCm39) V255A probably damaging Het
Or7g25 T A 9: 19,160,441 (GRCm39) I85F probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pgap6 A T 17: 26,338,414 (GRCm39) probably null Het
Pkhd1 T G 1: 20,607,589 (GRCm39) D1089A possibly damaging Het
Plb1 A G 5: 32,485,756 (GRCm39) R847G probably damaging Het
Pou6f2 A G 13: 18,303,612 (GRCm39) probably benign Het
Prss43 C G 9: 110,660,049 (GRCm39) S371C probably benign Het
Ralgapa1 A T 12: 55,741,942 (GRCm39) V1322D probably damaging Het
Rrp8 A G 7: 105,384,109 (GRCm39) V131A probably benign Het
Rtp1 A T 16: 23,248,044 (GRCm39) K39M probably benign Het
Sanbr A T 11: 23,565,150 (GRCm39) L279Q possibly damaging Het
Slc1a6 A G 10: 78,636,008 (GRCm39) I358V probably benign Het
Slc25a15 T C 8: 22,885,726 (GRCm39) probably benign Het
Slc43a1 G A 2: 84,684,897 (GRCm39) probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Spock3 T G 8: 63,802,018 (GRCm39) probably null Het
Tbc1d7 T C 13: 43,308,162 (GRCm39) probably null Het
Tmem184c C T 8: 78,326,286 (GRCm39) W260* probably null Het
Trnau1ap A G 4: 132,039,252 (GRCm39) Y265H probably damaging Het
Usp25 T C 16: 76,871,754 (GRCm39) F363S probably damaging Het
Vcl T C 14: 21,072,085 (GRCm39) F817L possibly damaging Het
Vmn1r13 T A 6: 57,187,717 (GRCm39) M292K probably benign Het
Xpc G T 6: 91,487,463 (GRCm39) A89E 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
IGL03009:Foxs1 APN 2 152,774,849 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGAAATTCAGTGTCTGCATCCGG -3'
(R):5'- CAAGGGCCCTGTCAAGATAGAC -3'

Sequencing Primer
(F):5'- ATCCGGCACTGGTAGCTG -3'
(R):5'- GGCCCTGTCAAGATAGACCACAG -3'
Posted On 2016-06-07