Incidental Mutation 'IGL01859:Foxc1'
| ID |
178246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxc1
|
| Ensembl Gene |
ENSMUSG00000050295 |
| Gene Name |
forkhead box C1 |
| Synonyms |
fkh1, FREAC3, fkh-1, frkhda, Mf1, Fkh1, Mf4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01859
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
31990629-31994618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31992706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 506
(S506P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062292]
|
| AlphaFold |
Q61572 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062292
AA Change: S506P
|
| SMART Domains |
Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: S506P
| 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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,963,336 (GRCm39) |
|
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,711,556 (GRCm39) |
M398V |
probably null |
Het |
| Angptl3 |
C |
T |
4: 98,925,669 (GRCm39) |
R332* |
probably null |
Het |
| Ano7 |
A |
G |
1: 93,322,168 (GRCm39) |
Y392C |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,060,540 (GRCm39) |
F18L |
probably damaging |
Het |
| Cdc23 |
G |
T |
18: 34,784,459 (GRCm39) |
P73Q |
probably benign |
Het |
| Cdkl1 |
A |
C |
12: 69,806,903 (GRCm39) |
L111R |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 46,965,655 (GRCm39) |
D822G |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,808,160 (GRCm39) |
R963* |
probably null |
Het |
| Crocc |
T |
C |
4: 140,756,601 (GRCm39) |
D1008G |
probably benign |
Het |
| Dntt |
G |
T |
19: 41,025,743 (GRCm39) |
M120I |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,678,890 (GRCm39) |
Y1003C |
possibly damaging |
Het |
| Fam178b |
T |
A |
1: 36,698,446 (GRCm39) |
R92W |
probably damaging |
Het |
| Fermt2 |
A |
G |
14: 45,697,413 (GRCm39) |
V646A |
possibly damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,341 (GRCm39) |
V610E |
probably benign |
Het |
| H2-T15 |
A |
T |
17: 36,368,903 (GRCm39) |
M59K |
possibly damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,601,569 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
T |
A |
12: 119,153,680 (GRCm39) |
R278S |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,552,132 (GRCm39) |
D953V |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,174,577 (GRCm39) |
D1749E |
possibly damaging |
Het |
| Mocos |
G |
T |
18: 24,799,717 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
T |
G |
18: 37,637,616 (GRCm39) |
N47K |
probably damaging |
Het |
| Phf21a |
T |
A |
2: 92,158,701 (GRCm39) |
F227L |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,225,915 (GRCm39) |
E907G |
probably benign |
Het |
| Pla2g4e |
G |
T |
2: 120,013,214 (GRCm39) |
Q369K |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,559,517 (GRCm39) |
I413T |
probably damaging |
Het |
| Ptgis |
A |
G |
2: 167,056,726 (GRCm39) |
|
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,119,899 (GRCm39) |
V452A |
probably benign |
Het |
| Rbms3 |
T |
A |
9: 116,788,606 (GRCm39) |
D105V |
probably damaging |
Het |
| Rnase1 |
C |
A |
14: 51,383,260 (GRCm39) |
Q31H |
probably benign |
Het |
| Rnase13 |
G |
T |
14: 52,159,760 (GRCm39) |
N126K |
probably damaging |
Het |
| Sema5b |
G |
T |
16: 35,467,479 (GRCm39) |
V248L |
possibly damaging |
Het |
| Serpinb12 |
G |
A |
1: 106,881,564 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
A |
T |
2: 130,526,914 (GRCm39) |
L738Q |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,001,938 (GRCm39) |
I23F |
probably damaging |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,202 (GRCm39) |
|
noncoding transcript |
Het |
| Tcp1 |
A |
G |
17: 13,141,571 (GRCm39) |
E350G |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,980 (GRCm39) |
K518E |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,149 (GRCm39) |
E317G |
probably damaging |
Het |
| Trit1 |
A |
G |
4: 122,943,344 (GRCm39) |
S335G |
probably benign |
Het |
| Usp28 |
G |
T |
9: 48,935,321 (GRCm39) |
E91* |
probably null |
Het |
| Vmn2r56 |
A |
G |
7: 12,449,932 (GRCm39) |
L102P |
probably damaging |
Het |
| Wwtr1 |
A |
C |
3: 57,384,938 (GRCm39) |
L203R |
possibly damaging |
Het |
| Zfp110 |
T |
C |
7: 12,583,467 (GRCm39) |
V705A |
possibly damaging |
Het |
| Zfp955a |
T |
C |
17: 33,462,693 (GRCm39) |
N67S |
probably benign |
Het |
|
| Other mutations in Foxc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation