Incidental Mutation 'R9614:Foxc1'
ID 724468
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9614 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 31990629-31994618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31991863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 225 (I225F)
Ref Sequence ENSEMBL: ENSMUSP00000052196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062292]
AlphaFold Q61572
Predicted Effect possibly damaging
Transcript: ENSMUST00000062292
AA Change: I225F

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: I225F

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,767,364 (GRCm39) T317I possibly damaging Het
Adamts7 T A 9: 90,077,251 (GRCm39) V1306E probably damaging Het
Adcy9 C T 16: 4,106,547 (GRCm39) D1093N probably damaging Het
Adgra3 A G 5: 50,164,250 (GRCm39) V243A probably damaging Het
Aqp4 C T 18: 15,526,687 (GRCm39) A265T probably benign Het
Atad2 A T 15: 57,970,119 (GRCm39) probably null Het
Atp13a4 A G 16: 29,260,398 (GRCm39) V560A Het
Best2 A C 8: 85,740,051 (GRCm39) C38G Het
Bicra A T 7: 15,705,880 (GRCm39) S1520R probably damaging Het
C1s2 A G 6: 124,602,588 (GRCm39) L541P probably damaging Het
Calcoco2 T A 11: 95,991,185 (GRCm39) H184L probably benign Het
Cav1 A T 6: 17,339,403 (GRCm39) I163F probably benign Het
Cep57l1 T C 10: 41,597,563 (GRCm39) H356R probably damaging Het
Clu A C 14: 66,208,851 (GRCm39) H32P unknown Het
Col5a1 T A 2: 27,879,186 (GRCm39) D840E unknown Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Csmd1 C A 8: 16,208,239 (GRCm39) V1239L probably benign Het
Cubn T A 2: 13,482,945 (GRCm39) Q267L probably benign Het
Cul7 C T 17: 46,975,212 (GRCm39) R1689W probably damaging Het
Dao A T 5: 114,152,060 (GRCm39) D126V probably benign Het
Eif3l T C 15: 78,978,423 (GRCm39) M560T probably benign Het
F830016B08Rik T A 18: 60,433,379 (GRCm39) I154N probably damaging Het
Fam184a T C 10: 53,517,144 (GRCm39) E980G probably damaging Het
Fgf21 T C 7: 45,264,703 (GRCm39) T10A probably benign Het
Fhad1 A C 4: 141,678,882 (GRCm39) V598G possibly damaging Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Galnt9 G A 5: 110,744,047 (GRCm39) G294S probably damaging Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Idh2 A T 7: 79,747,925 (GRCm39) Y258* probably null Het
Immp2l T C 12: 41,160,933 (GRCm39) V77A probably damaging Het
Isl1 T C 13: 116,441,924 (GRCm39) E103G Het
Itgad A T 7: 127,803,022 (GRCm39) T1059S probably damaging Het
Kcnj6 G A 16: 94,633,307 (GRCm39) T268I probably damaging Het
Lgals3bp A G 11: 118,284,037 (GRCm39) V514A probably benign Het
Mcfd2 A T 17: 87,565,421 (GRCm39) H27Q probably benign Het
Mettl13 A G 1: 162,364,769 (GRCm39) W537R probably damaging Het
Mybl2 G T 2: 162,906,225 (GRCm39) G102V probably damaging Het
Nars2 C T 7: 96,689,125 (GRCm39) T349M probably damaging Het
Nat8f3 A T 6: 85,738,708 (GRCm39) V18E Het
Npepps T C 11: 97,149,177 (GRCm39) E115G probably benign Het
Odad3 T C 9: 21,904,310 (GRCm39) D322G probably benign Het
Oog2 T A 4: 143,922,707 (GRCm39) V324E probably damaging Het
Or2y12 T A 11: 49,426,071 (GRCm39) W20R probably damaging Het
Or7g12 A T 9: 18,899,526 (GRCm39) M81L possibly damaging Het
Or8d2b G A 9: 38,789,281 (GRCm39) V270M probably damaging Het
Or8j3b A G 2: 86,205,012 (GRCm39) V248A probably damaging Het
Pdzd2 A G 15: 12,375,486 (GRCm39) S1550P probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pms2 T C 5: 143,854,420 (GRCm39) V243A probably benign Het
Ptpn9 A G 9: 56,944,005 (GRCm39) D293G probably benign Het
Ptprb A G 10: 116,203,441 (GRCm39) K1784R probably damaging Het
Rab23 CAA CA 1: 33,764,077 (GRCm39) probably null Het
Raf1 T C 6: 115,596,597 (GRCm39) N576D probably benign Het
Rasa4 C A 5: 136,140,343 (GRCm39) H782Q possibly damaging Het
Rims1 C A 1: 22,491,969 (GRCm39) E168* probably null Het
Rpgrip1l A T 8: 91,987,434 (GRCm39) N874K possibly damaging Het
Rxfp4 C T 3: 88,559,969 (GRCm39) V161I possibly damaging Het
Scel G A 14: 103,843,032 (GRCm39) G558D probably damaging Het
Sipa1l2 T C 8: 126,196,565 (GRCm39) K723R probably null Het
Slc12a1 A T 2: 125,002,445 (GRCm39) R142W probably damaging Het
Slc27a2 T A 2: 126,409,736 (GRCm39) V306D probably damaging Het
Sox4 C T 13: 29,136,079 (GRCm39) G309D probably damaging Het
Terb1 T C 8: 105,223,476 (GRCm39) T111A probably benign Het
Tgfa G A 6: 86,248,397 (GRCm39) R133H probably damaging Het
Ticrr T C 7: 79,345,754 (GRCm39) S1836P probably damaging Het
Tlk2 A G 11: 105,138,328 (GRCm39) D292G probably benign Het
Tmc7 A G 7: 118,141,160 (GRCm39) I657T probably benign Het
Tmprss11c G A 5: 86,383,379 (GRCm39) T349I probably benign Het
Trhr A G 15: 44,060,981 (GRCm39) N167S probably benign Het
Tsc22d1 T G 14: 76,653,983 (GRCm39) I154S probably damaging Het
Vmn1r2 T C 4: 3,172,587 (GRCm39) Y169H probably damaging Het
Vmn1r77 G T 7: 11,775,766 (GRCm39) V181L probably benign 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
R2442:Foxc1 UTSW 13 31,992,781 (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
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'- ATGTTCGAGAACGGCAGCTTC -3'
(R):5'- ATGTTGTCCACGCTGAAGCC -3'

Sequencing Primer
(F):5'- CGGCGCTTCAAGAAGAA -3'
(R):5'- TTCTGCAGCGTCCAGGC -3'
Posted On 2022-09-12