Incidental Mutation 'R7469:Foxc1'
ID 579056
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 045543-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7469 (G1)
Quality Score 135.008
Status Not validated
Chromosome 13
Chromosomal Location 31990629-31994618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 31992361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 391 (A391P)
Ref Sequence ENSEMBL: ENSMUSP00000052196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062292]
AlphaFold Q61572
Predicted Effect unknown
Transcript: ENSMUST00000062292
AA Change: A391P
SMART Domains Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: A391P

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 97% (77/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,259,014 (GRCm39) L443P probably damaging Het
Abtb2 T C 2: 103,397,292 (GRCm39) V74A probably benign Het
Adam5 A T 8: 25,305,541 (GRCm39) F66I probably benign Het
Aff1 T A 5: 103,981,413 (GRCm39) D517E probably benign Het
Agbl3 A G 6: 34,791,349 (GRCm39) K559R probably damaging Het
Aldh1l2 A C 10: 83,343,969 (GRCm39) V482G probably damaging Het
Ankra2 C T 13: 98,402,882 (GRCm39) A43V probably benign Het
Ankrd50 C A 3: 38,508,342 (GRCm39) V419F probably damaging Het
Arhgef16 G A 4: 154,375,763 (GRCm39) T77M probably damaging Het
Best3 T C 10: 116,840,290 (GRCm39) V240A probably damaging Het
Btbd7 T C 12: 102,779,027 (GRCm39) Y413C probably damaging Het
Bzw2 A T 12: 36,157,550 (GRCm39) V305E probably damaging Het
Cacng8 G A 7: 3,463,621 (GRCm39) A258T possibly damaging Het
Cfap157 T C 2: 32,670,696 (GRCm39) Y184C probably damaging Het
Chmp3 T A 6: 71,556,652 (GRCm39) V184E possibly damaging Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Ctdspl2 A T 2: 121,837,362 (GRCm39) E376D possibly damaging Het
Cyfip1 A G 7: 55,527,468 (GRCm39) D200G possibly damaging Het
Cylc2 T A 4: 51,227,970 (GRCm39) probably null Het
Cyp2c66 T A 19: 39,172,307 (GRCm39) F407L probably damaging Het
Dcp2 T C 18: 44,529,019 (GRCm39) F45L probably damaging Het
Dhx34 C T 7: 15,950,364 (GRCm39) R268H probably benign Het
Dnajc7 A T 11: 100,482,377 (GRCm39) M205K probably benign Het
Dzip3 C T 16: 48,765,242 (GRCm39) V491M probably benign Het
Farp1 T C 14: 121,512,833 (GRCm39) L777P probably damaging Het
Fchsd2 T G 7: 100,927,863 (GRCm39) probably null Het
Fer1l6 A T 15: 58,462,419 (GRCm39) probably null Het
Fhip1a T C 3: 85,580,069 (GRCm39) D712G probably benign Het
Fitm2 A G 2: 163,311,742 (GRCm39) F157S probably damaging Het
Flt1 G T 5: 147,540,379 (GRCm39) A770E probably damaging Het
Flt3 T A 5: 147,268,084 (GRCm39) E967V probably benign Het
Gimap6 T A 6: 48,679,392 (GRCm39) T215S probably benign Het
Gm2431 A T 7: 141,811,518 (GRCm39) C129S unknown Het
Itpr3 T C 17: 27,340,028 (GRCm39) S2636P possibly damaging Het
Lsg1 A G 16: 30,380,635 (GRCm39) Y601H probably benign Het
Map4 G T 9: 109,856,865 (GRCm39) probably null Het
Mga T C 2: 119,733,527 (GRCm39) M125T probably damaging Het
Mxi1 A G 19: 53,360,091 (GRCm39) D271G probably damaging Het
Ndst3 T A 3: 123,465,310 (GRCm39) T221S possibly damaging Het
Neto1 T A 18: 86,516,813 (GRCm39) S377T probably benign Het
Nkx6-2 T C 7: 139,161,555 (GRCm39) E210G probably damaging Het
Nos2 G T 11: 78,843,797 (GRCm39) V915F possibly damaging Het
Nrros G A 16: 31,963,030 (GRCm39) A329V probably benign Het
Numb T C 12: 83,850,578 (GRCm39) K211E probably benign Het
Nup210 T A 6: 90,995,874 (GRCm39) I1671F probably benign Het
Or12j3 G A 7: 139,953,050 (GRCm39) L158F possibly damaging Het
Or4c106 T A 2: 88,682,847 (GRCm39) D184E probably benign Het
Or4c31 T A 2: 88,291,691 (GRCm39) H2Q probably benign Het
Pcdh15 A T 10: 74,481,812 (GRCm39) M386L probably benign Het
Pcdhb3 C A 18: 37,434,388 (GRCm39) T118K probably benign Het
Pcdhb8 A T 18: 37,489,011 (GRCm39) I230F probably damaging Het
Peli2 G A 14: 48,488,015 (GRCm39) V120I probably benign Het
Pramel15 T A 4: 144,099,673 (GRCm39) Q364L probably damaging Het
Pramel7 T A 2: 87,321,748 (GRCm39) M96L probably benign Het
Prex2 T A 1: 11,355,293 (GRCm39) S1531R probably damaging Het
Prpf31 A G 7: 3,636,392 (GRCm39) T138A possibly damaging Het
Psme4 C T 11: 30,752,837 (GRCm39) T175I probably benign Het
Rasgrf2 A G 13: 92,165,530 (GRCm39) probably null Het
Rps19 T A 7: 24,589,190 (GRCm39) *146K probably null Het
Rsu1 T C 2: 13,082,371 (GRCm39) N260S probably benign Het
Serpina3k T C 12: 104,311,594 (GRCm39) C391R not run Het
Sipa1l1 T G 12: 82,467,438 (GRCm39) probably null Het
Snd1 T A 6: 28,626,126 (GRCm39) Y394N probably damaging Het
Spaca4 A T 7: 45,374,831 (GRCm39) V57E probably damaging Het
Spata31d1b A G 13: 59,863,278 (GRCm39) Y142C probably benign Het
Sptbn2 A G 19: 4,795,146 (GRCm39) K1535E probably benign Het
Srcin1 A G 11: 97,425,435 (GRCm39) S541P probably damaging Het
Tc2n A T 12: 101,631,934 (GRCm39) F308I probably damaging Het
Tdrd5 T C 1: 156,090,475 (GRCm39) D857G probably benign Het
Timm22 A G 11: 76,298,134 (GRCm39) D35G probably benign Het
Tram1l1 C A 3: 124,114,889 (GRCm39) H16Q probably benign Het
Uggt1 T C 1: 36,190,814 (GRCm39) Y1382C probably damaging Het
Usp32 G T 11: 84,879,379 (GRCm39) D1443E possibly damaging Het
Uty A T Y: 1,131,072 (GRCm39) C1046S possibly damaging Het
Wdr31 T A 4: 62,375,768 (GRCm39) Q230L probably damaging Het
Wnt8b C A 19: 44,500,001 (GRCm39) T196K possibly damaging Het
Xpo4 A T 14: 57,835,436 (GRCm39) H628Q probably benign Het
Zfp780b C T 7: 27,663,382 (GRCm39) S391N 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
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'- GTGGACAACATCATGACGTCG -3'
(R):5'- AACATTTCCCGCACCGAGTG -3'

Sequencing Primer
(F):5'- AACATCATGACGTCGCTGCG -3'
(R):5'- CACCGAGTGGAAGTTCTGCTG -3'
Posted On 2019-10-07