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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |