Incidental Mutation 'IGL02990:Foxn4'
ID |
406895 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Foxn4
|
Ensembl Gene |
ENSMUSG00000042002 |
Gene Name |
forkhead box N4 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02990
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
114392225-114411868 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114411050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 24
(S24P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044790]
[ENSMUST00000144050]
|
AlphaFold |
Q8K3Q3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044790
AA Change: S24P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000047951 Gene: ENSMUSG00000042002 AA Change: S24P
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
FH
|
195 |
287 |
2.15e-46 |
SMART |
low complexity region
|
386 |
403 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147953
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous null mice display postnatal lethality and abnormal retina morphology with a total loss of horizontal cells and decreased amacrine cell number. [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 |
Alox12b |
G |
T |
11: 69,054,032 (GRCm39) |
V205F |
probably benign |
Het |
Ampd3 |
T |
C |
7: 110,407,170 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
G |
A |
8: 3,494,904 (GRCm39) |
V388I |
probably benign |
Het |
Atp6v1c2 |
C |
T |
12: 17,344,741 (GRCm39) |
V169I |
probably damaging |
Het |
Ccdc88b |
G |
T |
19: 6,824,777 (GRCm39) |
L1328I |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cluh |
G |
A |
11: 74,558,591 (GRCm39) |
|
probably null |
Het |
Cpsf7 |
C |
A |
19: 10,509,159 (GRCm39) |
N23K |
probably benign |
Het |
Cyp4x1 |
A |
T |
4: 114,978,946 (GRCm39) |
F191L |
probably benign |
Het |
Dcn |
A |
G |
10: 97,345,835 (GRCm39) |
T216A |
probably benign |
Het |
Drosha |
C |
T |
15: 12,827,353 (GRCm39) |
|
probably benign |
Het |
Gm11733 |
A |
T |
11: 117,377,809 (GRCm39) |
|
probably null |
Het |
Hapln1 |
A |
C |
13: 89,749,725 (GRCm39) |
Y90S |
probably benign |
Het |
Igf2r |
C |
A |
17: 12,929,633 (GRCm39) |
|
probably benign |
Het |
Jade2 |
A |
G |
11: 51,722,074 (GRCm39) |
|
probably benign |
Het |
Kcnh7 |
A |
T |
2: 62,536,330 (GRCm39) |
L1084H |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,966,985 (GRCm39) |
D1155G |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,745,159 (GRCm39) |
M958V |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,271,740 (GRCm39) |
V4064A |
possibly damaging |
Het |
Mau2 |
A |
G |
8: 70,474,905 (GRCm39) |
|
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,128,522 (GRCm39) |
|
probably benign |
Het |
Myo15a |
A |
G |
11: 60,370,266 (GRCm39) |
T1009A |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,183,685 (GRCm39) |
|
probably null |
Het |
Neil2 |
G |
T |
14: 63,429,258 (GRCm39) |
H12N |
possibly damaging |
Het |
Nrde2 |
T |
C |
12: 100,108,355 (GRCm39) |
E412G |
probably damaging |
Het |
Or14j3 |
C |
T |
17: 37,900,559 (GRCm39) |
M228I |
probably benign |
Het |
Or4c115 |
T |
C |
2: 88,927,473 (GRCm39) |
Y266C |
possibly damaging |
Het |
Patl2 |
T |
G |
2: 121,954,978 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
C |
1: 20,593,187 (GRCm39) |
H1642R |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,646,022 (GRCm39) |
I199T |
possibly damaging |
Het |
Prom2 |
T |
A |
2: 127,370,734 (GRCm39) |
T817S |
probably benign |
Het |
Slc49a4 |
C |
A |
16: 35,555,861 (GRCm39) |
V200F |
possibly damaging |
Het |
Slc9b1 |
A |
G |
3: 135,100,744 (GRCm39) |
|
probably null |
Het |
Sv2c |
A |
T |
13: 96,224,886 (GRCm39) |
I141K |
probably damaging |
Het |
Tas2r139 |
A |
T |
6: 42,118,038 (GRCm39) |
I57F |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,105,703 (GRCm39) |
S106P |
possibly damaging |
Het |
Tnni3k |
T |
C |
3: 154,663,395 (GRCm39) |
D319G |
probably benign |
Het |
Tom1l2 |
C |
T |
11: 60,121,062 (GRCm39) |
D461N |
probably damaging |
Het |
Ugt1a10 |
T |
C |
1: 87,983,601 (GRCm39) |
L133S |
probably damaging |
Het |
Usf2 |
T |
G |
7: 30,654,732 (GRCm39) |
Q161P |
probably benign |
Het |
Vmn1r15 |
A |
G |
6: 57,235,593 (GRCm39) |
T154A |
probably benign |
Het |
Vmn2r95 |
C |
A |
17: 18,672,298 (GRCm39) |
Y678* |
probably null |
Het |
|
Other mutations in Foxn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0001:Foxn4
|
UTSW |
5 |
114,398,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Foxn4
|
UTSW |
5 |
114,397,809 (GRCm39) |
critical splice donor site |
probably null |
|
R0555:Foxn4
|
UTSW |
5 |
114,401,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Foxn4
|
UTSW |
5 |
114,399,129 (GRCm39) |
splice site |
probably benign |
|
R1662:Foxn4
|
UTSW |
5 |
114,394,955 (GRCm39) |
missense |
probably benign |
|
R1785:Foxn4
|
UTSW |
5 |
114,401,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R1786:Foxn4
|
UTSW |
5 |
114,401,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R2266:Foxn4
|
UTSW |
5 |
114,393,662 (GRCm39) |
missense |
probably damaging |
0.99 |
R2267:Foxn4
|
UTSW |
5 |
114,393,662 (GRCm39) |
missense |
probably damaging |
0.99 |
R2268:Foxn4
|
UTSW |
5 |
114,393,662 (GRCm39) |
missense |
probably damaging |
0.99 |
R2269:Foxn4
|
UTSW |
5 |
114,393,662 (GRCm39) |
missense |
probably damaging |
0.99 |
R2397:Foxn4
|
UTSW |
5 |
114,393,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R3121:Foxn4
|
UTSW |
5 |
114,396,776 (GRCm39) |
missense |
probably damaging |
0.99 |
R3122:Foxn4
|
UTSW |
5 |
114,396,776 (GRCm39) |
missense |
probably damaging |
0.99 |
R4579:Foxn4
|
UTSW |
5 |
114,394,886 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4623:Foxn4
|
UTSW |
5 |
114,398,991 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4749:Foxn4
|
UTSW |
5 |
114,393,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R5083:Foxn4
|
UTSW |
5 |
114,394,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5100:Foxn4
|
UTSW |
5 |
114,394,820 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5661:Foxn4
|
UTSW |
5 |
114,411,053 (GRCm39) |
missense |
probably benign |
|
R7015:Foxn4
|
UTSW |
5 |
114,394,916 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7292:Foxn4
|
UTSW |
5 |
114,396,716 (GRCm39) |
nonsense |
probably null |
|
R7342:Foxn4
|
UTSW |
5 |
114,396,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R7627:Foxn4
|
UTSW |
5 |
114,398,495 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7695:Foxn4
|
UTSW |
5 |
114,394,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R7970:Foxn4
|
UTSW |
5 |
114,401,068 (GRCm39) |
critical splice donor site |
probably null |
|
R8037:Foxn4
|
UTSW |
5 |
114,394,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R8038:Foxn4
|
UTSW |
5 |
114,394,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Foxn4
|
UTSW |
5 |
114,394,955 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |