Incidental Mutation 'R6865:Foxc1'
| ID |
535878 |
| 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 |
045027-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6865 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
31990629-31994618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31992836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 549
(D549G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062292]
|
| AlphaFold |
Q61572 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062292
AA Change: D549G
|
| SMART Domains |
Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: D549G
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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 |
|---|
| Akr1c12 |
T |
A |
13: 4,320,212 (GRCm39) |
M293L |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,683 (GRCm39) |
D723G |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,500,442 (GRCm39) |
R1010G |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,847 (GRCm39) |
R2410H |
probably benign |
Het |
| Auh |
T |
C |
13: 52,992,165 (GRCm39) |
D275G |
probably damaging |
Het |
| Card10 |
G |
T |
15: 78,686,822 (GRCm39) |
D47E |
possibly damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
T |
C |
4: 34,714,448 (GRCm39) |
Y416C |
possibly damaging |
Het |
| Chuk |
A |
T |
19: 44,075,354 (GRCm39) |
Y500* |
probably null |
Het |
| Cop1 |
T |
A |
1: 159,136,524 (GRCm39) |
D536E |
probably damaging |
Het |
| Crh |
G |
C |
3: 19,748,304 (GRCm39) |
P113A |
possibly damaging |
Het |
| Ddx54 |
T |
G |
5: 120,759,892 (GRCm39) |
|
probably null |
Het |
| Efcab7 |
T |
C |
4: 99,769,793 (GRCm39) |
S127P |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
| Fga |
T |
A |
3: 82,938,848 (GRCm39) |
C408S |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,318 (GRCm39) |
S22P |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,672 (GRCm39) |
T675S |
unknown |
Het |
| Gldc |
T |
C |
19: 30,111,162 (GRCm39) |
N538S |
possibly damaging |
Het |
| Grk4 |
T |
G |
5: 34,888,894 (GRCm39) |
V346G |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,747,127 (GRCm39) |
R111G |
probably benign |
Het |
| Heatr6 |
C |
T |
11: 83,659,966 (GRCm39) |
H504Y |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,670,013 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
T |
C |
17: 24,955,685 (GRCm39) |
S2P |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,464,313 (GRCm39) |
I185V |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,176,878 (GRCm39) |
S608P |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,459,678 (GRCm39) |
I174V |
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,766 (GRCm39) |
V252A |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,207,545 (GRCm39) |
R179M |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,383,690 (GRCm39) |
V29A |
possibly damaging |
Het |
| Olah |
T |
C |
2: 3,343,964 (GRCm39) |
D216G |
possibly damaging |
Het |
| Or13c7b |
T |
C |
4: 43,821,346 (GRCm39) |
N5S |
probably benign |
Het |
| Or52n2 |
T |
C |
7: 104,542,719 (GRCm39) |
I39V |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,795,461 (GRCm39) |
V2318A |
probably benign |
Het |
| Pknox1 |
T |
A |
17: 31,807,534 (GRCm39) |
M51K |
probably damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,098,242 (GRCm39) |
R321* |
probably null |
Het |
| Pxdn |
A |
G |
12: 30,064,582 (GRCm39) |
|
probably null |
Het |
| Rab44 |
A |
T |
17: 29,358,201 (GRCm39) |
I130F |
probably benign |
Het |
| Rnf130 |
T |
C |
11: 49,962,091 (GRCm39) |
I179T |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,041,856 (GRCm39) |
C450* |
probably null |
Het |
| Slco1c1 |
A |
T |
6: 141,485,778 (GRCm39) |
Y136F |
probably damaging |
Het |
| Synj2 |
C |
T |
17: 6,067,844 (GRCm39) |
Q106* |
probably null |
Het |
| Uckl1 |
T |
C |
2: 181,216,286 (GRCm39) |
N138S |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,018 (GRCm39) |
E203* |
probably null |
Het |
| Vdr |
A |
G |
15: 97,755,386 (GRCm39) |
I379T |
probably damaging |
Het |
| Zfp503 |
C |
A |
14: 22,036,101 (GRCm39) |
G272C |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
possibly damaging |
Het |
| Zzz3 |
T |
A |
3: 152,133,690 (GRCm39) |
D249E |
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 |
|
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'- ACTCACCTCGTGGTACCTGAAC -3'
(R):5'- GCTGAATTTCAGGAGAGATTCTG -3'
Sequencing Primer
(F):5'- TGGAGACCTGGGCCACTTG -3'
(R):5'- AATTTCAGGAGAGATTCTGTTCGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation