Incidental Mutation 'R5717:Foxc1'
Institutional Source Beutler Lab
Gene Symbol Foxc1
Ensembl Gene ENSMUSG00000050295
Gene Nameforkhead box C1
Synonymsfrkhda, fkh-1, Mf1, Mf4, FREAC3, Fkh1, fkh1
MMRRC Submission 043337-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5717 (G1)
Quality Score225
Status Validated
Chromosomal Location31806633-31812476 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 31807488 bp
Amino Acid Change Alanine to Valine at position 94 (A94V)
Ref Sequence ENSEMBL: ENSMUSP00000052196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062292]
Predicted Effect probably benign
Transcript: ENSMUST00000062292
AA Change: A94V

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: A94V

low complexity region 28 36 N/A INTRINSIC
FH 76 166 4e-64 SMART
low complexity region 169 186 N/A INTRINSIC
low complexity region 193 218 N/A INTRINSIC
low complexity region 236 254 N/A INTRINSIC
low complexity region 261 287 N/A INTRINSIC
low complexity region 289 302 N/A INTRINSIC
low complexity region 323 345 N/A INTRINSIC
low complexity region 352 398 N/A INTRINSIC
low complexity region 415 426 N/A INTRINSIC
low complexity region 444 456 N/A INTRINSIC
low complexity region 486 495 N/A INTRINSIC
Meta Mutation Damage Score 0.252 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are neonatal lethal with congenital hydrocephalus, edema, abnormalities of the eye, skull, axial skeleton, kidney-ureter and cardiovascular systems. Heterozygotes have variable milder defects depending on genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik A T 19: 42,053,045 H205L probably benign Het
Acss2 T C 2: 155,561,153 L617S probably damaging Het
Adgrl4 T C 3: 151,492,334 V77A probably benign Het
Adnp2 A G 18: 80,128,264 S977P probably benign Het
Ankrd11 T C 8: 122,892,638 K1492E possibly damaging Het
B4galt5 G A 2: 167,306,629 R190C probably damaging Het
Bbs1 A G 19: 4,897,326 V355A possibly damaging Het
Cenpj GTTTT GTTTTT 14: 56,553,521 probably null Het
Ckap2 T C 8: 22,175,047 E467G probably damaging Het
Cry1 A T 10: 85,146,416 H355Q probably damaging Het
Cspg4 G T 9: 56,885,798 M272I probably benign Het
Dicer1 T A 12: 104,705,128 Y961F probably damaging Het
Dirc2 A G 16: 35,719,429 F341L probably benign Het
Epha2 A T 4: 141,322,071 M689L probably benign Het
Fras1 T C 5: 96,781,737 V4000A possibly damaging Het
Frmd8 G T 19: 5,873,368 probably benign Het
Gm5218 A G 15: 81,499,277 noncoding transcript Het
Gm7735 T C 16: 89,169,542 L18P unknown Het
Hr C T 14: 70,566,176 T808I probably benign Het
Hyal6 T C 6: 24,743,691 M462T probably benign Het
Igkv6-20 T A 6: 70,336,428 probably benign Het
Igkv8-27 T A 6: 70,171,934 T59S probably benign Het
Itga11 A G 9: 62,752,249 T428A probably benign Het
Klk1b16 A G 7: 44,139,489 I49V probably benign Het
Matn2 G T 15: 34,399,091 E375* probably null Het
Msgn1 T C 12: 11,208,518 Y144C probably damaging Het
Myh1 A G 11: 67,208,956 N564S probably benign Het
Mypn A G 10: 63,127,776 V972A probably damaging Het
Olfr1209 T C 2: 88,910,022 I124V possibly damaging Het
Olfr235 A G 19: 12,269,156 K309E probably benign Het
Olfr284 G A 15: 98,340,365 A208V probably benign Het
Ppp2r5d A G 17: 46,687,894 S81P probably damaging Het
Ptgis C T 2: 167,208,364 probably benign Het
Ptprr A G 10: 116,048,113 N25S probably benign Het
Rnf123 G A 9: 108,067,424 T456I probably damaging Het
Rpl6l T C 10: 111,126,023 noncoding transcript Het
Rps25 A G 9: 44,408,750 Y23C probably benign Het
Sec24a A G 11: 51,707,210 V879A probably benign Het
Sema6a G A 18: 47,249,263 A739V probably benign Het
Senp6 A T 9: 80,092,312 I4F probably damaging Het
Stoml3 A T 3: 53,505,516 Q197L probably damaging Het
Ttn T A 2: 76,747,747 K24267N probably damaging Het
Vmn1r43 T C 6: 89,869,923 S194G probably damaging Het
Vmn2r17 C T 5: 109,427,274 T149I possibly damaging Het
Wdr72 T A 9: 74,148,205 Y239N probably damaging Het
Zfp423 A T 8: 87,686,559 probably null Het
Zfp759 T A 13: 67,138,708 C114S probably damaging Het
Other mutations in Foxc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Foxc1 APN 13 31808723 missense unknown
R0369:Foxc1 UTSW 13 31807512 missense probably damaging 0.99
R1217:Foxc1 UTSW 13 31808685 missense unknown
R1489:Foxc1 UTSW 13 31808612 nonsense probably null
R1696:Foxc1 UTSW 13 31808799 missense unknown
R1884:Foxc1 UTSW 13 31807665 missense probably damaging 0.98
R2163:Foxc1 UTSW 13 31808603 missense unknown
R2442:Foxc1 UTSW 13 31808798 missense unknown
R4210:Foxc1 UTSW 13 31807707 missense probably damaging 1.00
R5562:Foxc1 UTSW 13 31807590 missense probably damaging 1.00
R6865:Foxc1 UTSW 13 31808853 missense unknown
R7289:Foxc1 UTSW 13 31807260 missense probably damaging 1.00
R7397:Foxc1 UTSW 13 31807635 missense probably damaging 0.98
R7469:Foxc1 UTSW 13 31808378 missense unknown
R7469:Foxc1 UTSW 13 31808379 missense unknown
X0063:Foxc1 UTSW 13 31807556 missense probably benign 0.14
Predicted Primers PCR Primer

Sequencing Primer
Posted On2017-01-03