Incidental Mutation 'R8530:Foxc1'
ID 659013
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 068500-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8530 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 31990629-31994618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31991771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 194 (P194Q)
Ref Sequence ENSEMBL: ENSMUSP00000052196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062292]
AlphaFold Q61572
Predicted Effect probably benign
Transcript: ENSMUST00000062292
AA Change: P194Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: P194Q

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G C 3: 137,774,586 (GRCm39) E1258D probably damaging Het
4930407I10Rik T A 15: 81,949,587 (GRCm39) H1161Q probably damaging Het
Adam20 A G 8: 41,249,071 (GRCm39) S394G probably damaging Het
Akr1c12 A T 13: 4,320,160 (GRCm39) F310Y probably benign Het
Ank G A 15: 27,544,490 (GRCm39) A84T probably benign Het
Bcas1 A T 2: 170,229,868 (GRCm39) I244K probably damaging Het
Cacna1a T C 8: 85,339,043 (GRCm39) probably null Het
Car14 T C 3: 95,807,670 (GRCm39) H79R probably benign Het
Cd163 T C 6: 124,295,860 (GRCm39) Y735H probably damaging Het
Cdh11 G A 8: 103,391,387 (GRCm39) P283L probably benign Het
Cfi C T 3: 129,644,382 (GRCm39) T126I possibly damaging Het
Col6a4 T A 9: 105,957,704 (GRCm39) H40L probably benign Het
Dbh A G 2: 27,058,318 (GRCm39) D162G probably damaging Het
Dnah14 A G 1: 181,492,511 (GRCm39) K1657R probably damaging Het
E2f7 T A 10: 110,614,859 (GRCm39) V521D probably benign Het
Eif3g A C 9: 20,809,026 (GRCm39) S93A possibly damaging Het
Fa2h T C 8: 112,082,788 (GRCm39) E143G probably benign Het
Fyco1 A G 9: 123,669,605 (GRCm39) probably null Het
Gabrb3 T C 7: 57,461,819 (GRCm39) S256P probably damaging Het
Gcc1 C A 6: 28,420,730 (GRCm39) D196Y probably damaging Het
Herc1 T A 9: 66,325,910 (GRCm39) D1461E probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hps6 A T 19: 45,991,959 (GRCm39) probably benign Het
Macc1 A T 12: 119,409,474 (GRCm39) I81F probably damaging Het
Man2c1 G T 9: 57,038,922 (GRCm39) D111Y probably damaging Het
Mast3 A T 8: 71,240,877 (GRCm39) I240N possibly damaging Het
Matn1 A T 4: 130,677,447 (GRCm39) K219* probably null Het
Nup210 C G 6: 91,053,627 (GRCm39) A297P possibly damaging Het
Or5d43 A T 2: 88,105,154 (GRCm39) L80I probably damaging Het
Or6d12 T A 6: 116,493,530 (GRCm39) I264K probably damaging Het
Pcare T C 17: 72,059,101 (GRCm39) Y192C probably damaging Het
Pcnt G A 10: 76,256,039 (GRCm39) R734W probably damaging Het
Phactr3 A G 2: 177,925,819 (GRCm39) N360D probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Potefam3a T C 8: 20,356,984 (GRCm38) N242S probably benign Het
Qtrt2 C A 16: 43,689,407 (GRCm39) G197V probably damaging Het
Rabep1 A T 11: 70,810,068 (GRCm39) L500F probably damaging Het
Rhof T A 5: 123,257,581 (GRCm39) D183V probably damaging Het
Shprh T C 10: 11,027,678 (GRCm39) V95A probably benign Het
Spata31d1b A T 13: 59,864,964 (GRCm39) N704I unknown Het
Tas1r2 A T 4: 139,389,460 (GRCm39) Y452F probably benign Het
Tc2n A T 12: 101,617,444 (GRCm39) F325Y possibly damaging Het
Tiam2 G T 17: 3,501,087 (GRCm39) V909L probably benign Het
Tlx1 A T 19: 45,139,524 (GRCm39) Y57F probably benign Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Vmn2r58 A T 7: 41,513,576 (GRCm39) W356R probably damaging Het
Wars1 G A 12: 108,848,818 (GRCm39) A43V probably damaging Het
Wrn A T 8: 33,770,852 (GRCm39) I694N possibly damaging Het
Zfp120 A G 2: 149,959,168 (GRCm39) Y385H 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
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'- CTTCTATCGGGACAATAAGCAGGG -3'
(R):5'- GCTCTCGATTTTGGGCACTG -3'

Sequencing Primer
(F):5'- GAGTGCTTCGTCAAGGTGCC -3'
(R):5'- CGATTTTGGGCACTGTGGCG -3'
Posted On 2021-01-18