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)
|
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
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |