Incidental Mutation 'R3122:Foxn4'
ID |
264102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Foxn4
|
Ensembl Gene |
ENSMUSG00000042002 |
Gene Name |
forkhead box N4 |
Synonyms |
|
MMRRC Submission |
040595-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3122 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114392225-114411868 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 114396776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 236
(T236A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044790]
[ENSMUST00000129530]
[ENSMUST00000144050]
|
AlphaFold |
Q8K3Q3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044790
AA Change: T236A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047951 Gene: ENSMUSG00000042002 AA Change: T236A
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: ENSMUST00000129530
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147953
|
Meta Mutation Damage Score |
0.3351 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (48/48) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
C |
8: 25,118,248 (GRCm39) |
N8S |
possibly damaging |
Het |
Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
Capn7 |
A |
T |
14: 31,081,167 (GRCm39) |
I395F |
probably damaging |
Het |
Ccbe1 |
A |
G |
18: 66,199,900 (GRCm39) |
M274T |
probably benign |
Het |
Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
Ccdc17 |
G |
T |
4: 116,456,749 (GRCm39) |
|
probably benign |
Het |
Ccdc85a |
C |
A |
11: 28,533,499 (GRCm39) |
C15F |
unknown |
Het |
Cpt1c |
A |
G |
7: 44,609,345 (GRCm39) |
Y715H |
probably damaging |
Het |
Dmwd |
T |
A |
7: 18,814,620 (GRCm39) |
F423L |
probably damaging |
Het |
Dock3 |
C |
G |
9: 106,788,542 (GRCm39) |
A1598P |
probably damaging |
Het |
Ext2 |
A |
G |
2: 93,644,170 (GRCm39) |
L37P |
probably damaging |
Het |
Fam120a |
T |
C |
13: 49,045,562 (GRCm39) |
D758G |
possibly damaging |
Het |
Gm9776 |
A |
T |
13: 94,495,194 (GRCm39) |
|
probably benign |
Het |
Grik1 |
A |
T |
16: 87,803,361 (GRCm39) |
M277K |
probably damaging |
Het |
H2-T23 |
T |
A |
17: 36,341,855 (GRCm39) |
M248L |
probably benign |
Het |
Hephl1 |
A |
G |
9: 15,000,265 (GRCm39) |
F329S |
possibly damaging |
Het |
Kif13a |
G |
A |
13: 46,918,072 (GRCm39) |
|
probably benign |
Het |
Knl1 |
T |
A |
2: 118,899,425 (GRCm39) |
H375Q |
probably benign |
Het |
Lox |
A |
G |
18: 52,658,177 (GRCm39) |
F332S |
probably damaging |
Het |
Ltf |
G |
A |
9: 110,851,968 (GRCm39) |
C135Y |
probably damaging |
Het |
Madd |
A |
G |
2: 91,006,554 (GRCm39) |
Y347H |
probably damaging |
Het |
Mboat1 |
T |
C |
13: 30,422,031 (GRCm39) |
Y387H |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naip1 |
T |
C |
13: 100,545,503 (GRCm39) |
T1342A |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,453,031 (GRCm39) |
D10G |
probably benign |
Het |
Nudt8 |
A |
G |
19: 4,052,015 (GRCm39) |
R209G |
possibly damaging |
Het |
Or4c31 |
G |
T |
2: 88,291,853 (GRCm39) |
M75I |
probably damaging |
Het |
Or56a3 |
T |
C |
7: 104,735,385 (GRCm39) |
V154A |
probably benign |
Het |
Or8k35 |
A |
T |
2: 86,424,954 (GRCm39) |
Y73N |
possibly damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Phactr1 |
T |
A |
13: 43,213,049 (GRCm39) |
S131T |
possibly damaging |
Het |
Phactr3 |
A |
G |
2: 177,973,411 (GRCm39) |
I475V |
probably damaging |
Het |
Pip |
T |
A |
6: 41,828,819 (GRCm39) |
N121K |
probably damaging |
Het |
Pla2g4d |
T |
C |
2: 120,109,384 (GRCm39) |
R222G |
probably benign |
Het |
Rbm42 |
A |
G |
7: 30,349,152 (GRCm39) |
|
probably benign |
Het |
Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,087,845 (GRCm39) |
V1745I |
possibly damaging |
Het |
Tnfsf15 |
T |
A |
4: 63,652,522 (GRCm39) |
E96D |
probably benign |
Het |
Vmn1r217 |
A |
G |
13: 23,298,249 (GRCm39) |
S218P |
probably damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r71 |
T |
G |
7: 85,264,828 (GRCm39) |
Y53* |
probably null |
Het |
Wapl |
A |
G |
14: 34,451,172 (GRCm39) |
I729M |
possibly damaging |
Het |
Wrnip1 |
A |
G |
13: 32,986,744 (GRCm39) |
D175G |
probably benign |
Het |
Zscan2 |
G |
A |
7: 80,513,092 (GRCm39) |
A26T |
probably benign |
Het |
|
Other mutations in Foxn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02990:Foxn4
|
APN |
5 |
114,411,050 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCGAGGTCCTTTCGTTTCC -3'
(R):5'- AATTGTGGCCCAACTACAGACC -3'
Sequencing Primer
(F):5'- GAGGTCCTTTCGTTTCCACTTGTG -3'
(R):5'- GCTACTGTGTGCCCCAGTC -3'
|
Posted On |
2015-02-05 |