Incidental Mutation 'R2442:Foxc1'
ID 249830
Institutional Source Beutler Lab
Gene Symbol Foxc1
Ensembl Gene ENSMUSG00000050295
Gene Name forkhead box C1
Synonyms fkh1, FREAC3, fkh-1, frkhda, Mf1, Fkh1, Mf4
MMRRC Submission 040400-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2442 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 31990629-31994618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31992781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 531 (M531V)
Ref Sequence ENSEMBL: ENSMUSP00000052196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062292]
AlphaFold Q61572
Predicted Effect unknown
Transcript: ENSMUST00000062292
AA Change: M531V
SMART Domains Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: M531V

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,547,606 (GRCm39) V256A probably benign Het
Acap1 T C 11: 69,780,317 (GRCm39) N42S possibly damaging Het
Apoo-ps C A 13: 107,551,140 (GRCm39) noncoding transcript Het
Bri3 C T 5: 144,181,411 (GRCm39) T39I probably benign Het
Bsn A G 9: 107,984,119 (GRCm39) S3312P unknown Het
Camkmt C A 17: 85,398,203 (GRCm39) A17E possibly damaging Het
Cc2d2a G T 5: 43,828,647 (GRCm39) probably null Het
Ccdc122 G T 14: 77,329,398 (GRCm39) M150I possibly damaging Het
Celf4 A G 18: 25,886,516 (GRCm39) F57L probably damaging Het
Cep192 T A 18: 67,957,759 (GRCm39) F564Y possibly damaging Het
Ces1c T C 8: 93,849,840 (GRCm39) D38G probably damaging Het
Cts7 C A 13: 61,503,431 (GRCm39) G178* probably null Het
Dcc A T 18: 71,589,954 (GRCm39) Y681N probably damaging Het
Dhx29 A G 13: 113,083,508 (GRCm39) E521G possibly damaging Het
Dnase2a T C 8: 85,635,622 (GRCm39) V35A probably damaging Het
Eif3l A G 15: 78,969,807 (GRCm39) M268V probably damaging Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Ifit1bl1 G A 19: 34,572,289 (GRCm39) A56V probably benign Het
Iqsec1 T C 6: 90,666,865 (GRCm39) E524G possibly damaging Het
Kcnt2 A G 1: 140,304,091 (GRCm39) I154V possibly damaging Het
Kdm1b T A 13: 47,216,451 (GRCm39) Y274N probably benign Het
Kntc1 T A 5: 123,948,922 (GRCm39) L1889Q probably damaging Het
Lama1 A G 17: 68,075,312 (GRCm39) T1010A probably benign Het
Mmp11 T C 10: 75,763,079 (GRCm39) N171S probably benign Het
Myom1 A G 17: 71,417,730 (GRCm39) E1409G probably damaging Het
N4bp1 A G 8: 87,588,668 (GRCm39) I90T probably damaging Het
Or4c52 T C 2: 89,845,685 (GRCm39) V137A probably benign Het
Plcb4 T C 2: 135,792,302 (GRCm39) S342P probably damaging Het
Plg A G 17: 12,629,847 (GRCm39) E627G probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc7a14 A G 3: 31,284,469 (GRCm39) I289T probably damaging Het
Srpra G A 9: 35,123,297 (GRCm39) G43S possibly damaging Het
Tbc1d9 T C 8: 83,892,705 (GRCm39) M1T probably null Het
Tcte2 A T 17: 13,934,339 (GRCm39) I90N possibly damaging Het
Trim30c G A 7: 104,031,481 (GRCm39) P445S probably damaging Het
Trrap A G 5: 144,754,776 (GRCm39) Q1984R probably damaging Het
Ubn2 T C 6: 38,467,940 (GRCm39) S885P probably benign Het
Unc45a A G 7: 79,989,417 (GRCm39) F17S probably damaging Het
Uts2b C T 16: 27,179,782 (GRCm39) V75I probably benign Het
Vmn2r103 A G 17: 19,993,793 (GRCm39) K57E probably benign Het
Vmn2r82 A G 10: 79,221,210 (GRCm39) S524G probably damaging Het
Other mutations in Foxc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Foxc1 APN 13 31,992,706 (GRCm39) missense unknown
R0369:Foxc1 UTSW 13 31,991,495 (GRCm39) missense probably damaging 0.99
R1217:Foxc1 UTSW 13 31,992,668 (GRCm39) missense unknown
R1489:Foxc1 UTSW 13 31,992,595 (GRCm39) nonsense probably null
R1696:Foxc1 UTSW 13 31,992,782 (GRCm39) missense unknown
R1884:Foxc1 UTSW 13 31,991,648 (GRCm39) missense probably damaging 0.98
R2163:Foxc1 UTSW 13 31,992,586 (GRCm39) missense unknown
R4210:Foxc1 UTSW 13 31,991,690 (GRCm39) missense probably damaging 1.00
R5562:Foxc1 UTSW 13 31,991,573 (GRCm39) missense probably damaging 1.00
R5717:Foxc1 UTSW 13 31,991,471 (GRCm39) missense probably benign 0.25
R6865:Foxc1 UTSW 13 31,992,836 (GRCm39) missense unknown
R7289:Foxc1 UTSW 13 31,991,243 (GRCm39) missense probably damaging 1.00
R7397:Foxc1 UTSW 13 31,991,618 (GRCm39) missense probably damaging 0.98
R7469:Foxc1 UTSW 13 31,992,362 (GRCm39) missense unknown
R7469:Foxc1 UTSW 13 31,992,361 (GRCm39) missense unknown
R7763:Foxc1 UTSW 13 31,992,011 (GRCm39) missense probably benign 0.23
R7806:Foxc1 UTSW 13 31,992,739 (GRCm39) missense unknown
R8350:Foxc1 UTSW 13 31,991,548 (GRCm39) nonsense probably null
R8429:Foxc1 UTSW 13 31,991,759 (GRCm39) missense probably benign
R8529:Foxc1 UTSW 13 31,992,520 (GRCm39) missense unknown
R8530:Foxc1 UTSW 13 31,991,771 (GRCm39) missense probably benign 0.00
R8849:Foxc1 UTSW 13 31,992,817 (GRCm39) missense unknown
R8894:Foxc1 UTSW 13 31,992,205 (GRCm39) missense unknown
R9588:Foxc1 UTSW 13 31,992,587 (GRCm39) missense unknown
R9614:Foxc1 UTSW 13 31,991,863 (GRCm39) missense possibly damaging 0.92
R9645:Foxc1 UTSW 13 31,991,882 (GRCm39) missense probably damaging 1.00
R9707:Foxc1 UTSW 13 31,991,882 (GRCm39) missense probably damaging 1.00
X0063:Foxc1 UTSW 13 31,991,539 (GRCm39) missense probably benign 0.14
Z1177:Foxc1 UTSW 13 31,991,291 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- TCACCTCGTGGTACCTGAAC -3'
(R):5'- ATTTCAGGAGAGATTCTGTTCGCTG -3'

Sequencing Primer
(F):5'- CCAGGCAGGTGGAGACC -3'
(R):5'- CTGGTGTGAGGAATCTTCTCAAG -3'
Posted On 2014-11-12