Incidental Mutation 'IGL01859:Foxc1'
ID178246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxc1
Ensembl Gene ENSMUSG00000050295
Gene Nameforkhead box C1
Synonymsfrkhda, fkh-1, Mf1, Mf4, FREAC3, Fkh1, fkh1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01859
Quality Score
Status
Chromosome13
Chromosomal Location31806633-31812476 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31808723 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 506 (S506P)
Ref Sequence ENSEMBL: ENSMUSP00000052196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062292]
Predicted Effect unknown
Transcript: ENSMUST00000062292
AA Change: S506P
SMART Domains Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: S506P

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 104,086,137 probably benign Het
Ak7 A G 12: 105,745,297 M398V probably null Het
Angptl3 C T 4: 99,037,432 R332* probably null Het
Ano7 A G 1: 93,394,446 Y392C probably damaging Het
Arpc1b T C 5: 145,123,730 F18L probably damaging Het
Cdc23 G T 18: 34,651,406 P73Q probably benign Het
Cdkl1 A C 12: 69,760,129 L111R probably damaging Het
Cntnap2 A G 6: 46,988,721 D822G probably damaging Het
Col6a5 G A 9: 105,930,961 R963* probably null Het
Crocc T C 4: 141,029,290 D1008G probably benign Het
Dntt G T 19: 41,037,304 M120I probably benign Het
Dock1 A G 7: 135,077,161 Y1003C possibly damaging Het
Fam178b T A 1: 36,659,365 R92W probably damaging Het
Fermt2 A G 14: 45,459,956 V646A possibly damaging Het
Gm11127 A T 17: 36,058,011 M59K possibly damaging Het
Gtpbp1 T A 15: 79,719,140 V610E probably benign Het
Hsdl2 T C 4: 59,601,569 probably null Het
Itgb8 T A 12: 119,189,945 R278S probably damaging Het
Kcnh7 T A 2: 62,721,788 D953V probably benign Het
Med13 A T 11: 86,283,751 D1749E possibly damaging Het
Mocos G T 18: 24,666,660 probably benign Het
Pcdhb20 T G 18: 37,504,563 N47K probably damaging Het
Phf21a T A 2: 92,328,356 F227L probably damaging Het
Piezo2 T C 18: 63,092,844 E907G probably benign Het
Pla2g4e G T 2: 120,182,733 Q369K possibly damaging Het
Ppp3cb A G 14: 20,509,449 I413T probably damaging Het
Ptgis A G 2: 167,214,806 probably null Het
Rasgrp1 A G 2: 117,289,418 V452A probably benign Het
Rbms3 T A 9: 116,959,538 D105V probably damaging Het
Rnase1 C A 14: 51,145,803 Q31H probably benign Het
Rnase13 G T 14: 51,922,303 N126K probably damaging Het
Sema5b G T 16: 35,647,109 V248L possibly damaging Het
Serpinb12 G A 1: 106,953,834 probably null Het
Slc4a11 A T 2: 130,684,994 L738Q probably damaging Het
Spta1 A T 1: 174,174,372 I23F probably damaging Het
Stk-ps2 A T 1: 46,030,042 noncoding transcript Het
Tcp1 A G 17: 12,922,684 E350G possibly damaging Het
Tonsl T C 15: 76,634,780 K518E probably damaging Het
Trim34a A G 7: 104,260,942 E317G probably damaging Het
Trit1 A G 4: 123,049,551 S335G probably benign Het
Usp28 G T 9: 49,024,021 E91* probably null Het
Vmn2r56 A G 7: 12,716,005 L102P probably damaging Het
Wwtr1 A C 3: 57,477,517 L203R possibly damaging Het
Zfp110 T C 7: 12,849,540 V705A possibly damaging Het
Zfp955a T C 17: 33,243,719 N67S probably benign Het
Other mutations in Foxc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5717:Foxc1 UTSW 13 31807488 missense probably benign 0.25
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
R7763:Foxc1 UTSW 13 31808028 missense probably benign 0.23
R7806:Foxc1 UTSW 13 31808756 missense unknown
X0063:Foxc1 UTSW 13 31807556 missense probably benign 0.14
Z1177:Foxc1 UTSW 13 31807308 missense probably benign 0.32
Posted On2014-05-07