Incidental Mutation 'R1489:Foxc1'
| ID |
163620 |
| 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 |
039541-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1489 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
31990629-31994618 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 31992595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 469
(R469*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062292]
|
| AlphaFold |
Q61572 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062292
AA Change: R469*
|
| SMART Domains |
Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: R469*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
96% (52/54) |
| 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 |
|---|
| 2700097O09Rik |
A |
G |
12: 55,106,295 (GRCm39) |
S143P |
possibly damaging |
Het |
| 4930522H14Rik |
T |
C |
4: 109,362,654 (GRCm39) |
K218E |
possibly damaging |
Het |
| Abcb1a |
T |
A |
5: 8,736,300 (GRCm39) |
|
probably null |
Het |
| Adam39 |
A |
G |
8: 41,278,031 (GRCm39) |
T141A |
possibly damaging |
Het |
| Adam6b |
T |
A |
12: 113,455,071 (GRCm39) |
S629R |
probably benign |
Het |
| Ap3b2 |
C |
A |
7: 81,113,438 (GRCm39) |
E924* |
probably null |
Het |
| Armc3 |
A |
T |
2: 19,314,858 (GRCm39) |
Y856F |
probably benign |
Het |
| Asap1 |
A |
G |
15: 64,044,579 (GRCm39) |
L142P |
probably damaging |
Het |
| Atg9a |
T |
A |
1: 75,162,734 (GRCm39) |
D427V |
probably damaging |
Het |
| Atl2 |
G |
A |
17: 80,160,135 (GRCm39) |
A17V |
probably benign |
Het |
| Atxn2l |
A |
T |
7: 126,095,639 (GRCm39) |
S379T |
probably damaging |
Het |
| C1ql3 |
G |
T |
2: 13,015,453 (GRCm39) |
P69Q |
possibly damaging |
Het |
| Cap2 |
A |
T |
13: 46,763,111 (GRCm39) |
I114F |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,096,950 (GRCm39) |
F1383L |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,100,667 (GRCm39) |
I144V |
probably benign |
Het |
| Cox16 |
T |
C |
12: 81,521,389 (GRCm39) |
N135S |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,108,234 (GRCm39) |
H180Q |
possibly damaging |
Het |
| Dpy19l3 |
A |
T |
7: 35,424,835 (GRCm39) |
Y73* |
probably null |
Het |
| Duox2 |
T |
A |
2: 122,123,877 (GRCm39) |
M436L |
probably benign |
Het |
| Exoc6 |
T |
A |
19: 37,585,568 (GRCm39) |
M481K |
possibly damaging |
Het |
| Fbxw2 |
GCCCCC |
GCCCCCCCC |
2: 34,702,829 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
T |
A |
2: 113,195,557 (GRCm39) |
V419E |
unknown |
Het |
| Fndc4 |
T |
C |
5: 31,450,795 (GRCm39) |
*232W |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,810,155 (GRCm39) |
H2158R |
probably benign |
Het |
| Ghdc |
C |
T |
11: 100,659,083 (GRCm39) |
G373D |
probably benign |
Het |
| Gm10330 |
A |
T |
12: 23,830,032 (GRCm39) |
S50T |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Lonrf1 |
A |
G |
8: 36,690,108 (GRCm39) |
V650A |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,130,918 (GRCm39) |
V578A |
possibly damaging |
Het |
| Mbd3 |
C |
G |
10: 80,229,740 (GRCm39) |
D190H |
probably damaging |
Het |
| Mcpt9 |
T |
C |
14: 56,264,976 (GRCm39) |
K175R |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,120,121 (GRCm39) |
S85P |
probably benign |
Het |
| Myrip |
T |
C |
9: 120,261,595 (GRCm39) |
F403L |
probably damaging |
Het |
| Nox4 |
A |
G |
7: 86,954,097 (GRCm39) |
Y134C |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,842,217 (GRCm39) |
L642P |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,099,185 (GRCm39) |
Y568F |
possibly damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,593 (GRCm39) |
L333P |
probably benign |
Het |
| Prl |
A |
T |
13: 27,241,619 (GRCm39) |
S3C |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,047,824 (GRCm39) |
T60A |
possibly damaging |
Het |
| Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
| Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,205,761 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,058,891 (GRCm39) |
E1942G |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,479 (GRCm39) |
Y66C |
probably damaging |
Het |
| Tnnt1 |
A |
T |
7: 4,510,524 (GRCm39) |
Y232* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,839,405 (GRCm39) |
|
probably null |
Het |
| Virma |
T |
C |
4: 11,521,164 (GRCm39) |
V907A |
probably damaging |
Het |
| Vmn1r174 |
C |
T |
7: 23,453,981 (GRCm39) |
Q216* |
probably null |
Het |
| Zswim3 |
T |
C |
2: 164,661,901 (GRCm39) |
V127A |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCGTGGACAACATCATGACG -3'
(R):5'- GCCGGGAATAGGGTCAGAATTTGC -3'
Sequencing Primer
(F):5'- AGGCTATGAGCCTGTACGC -3'
(R):5'- AGGGTCAGAATTTGCTACAGTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation