Incidental Mutation 'R5100:Foxn4'
ID |
388212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Foxn4
|
Ensembl Gene |
ENSMUSG00000042002 |
Gene Name |
forkhead box N4 |
Synonyms |
|
MMRRC Submission |
042689-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5100 (G1)
|
Quality Score |
221 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
114392225-114411868 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 114394820 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 369
(L369H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044790]
[ENSMUST00000129530]
[ENSMUST00000144050]
|
AlphaFold |
Q8K3Q3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044790
AA Change: L369H
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000047951 Gene: ENSMUSG00000042002 AA Change: L369H
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
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
T |
11: 72,057,477 (GRCm39) |
M774K |
probably damaging |
Het |
Adamts3 |
G |
A |
5: 89,856,502 (GRCm39) |
T357I |
probably damaging |
Het |
Ap3m2 |
T |
A |
8: 23,279,404 (GRCm39) |
M408L |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,833,149 (GRCm39) |
N1116K |
probably benign |
Het |
Arhgap31 |
A |
T |
16: 38,421,821 (GRCm39) |
I1415N |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,530,963 (GRCm39) |
D1374E |
possibly damaging |
Het |
Asxl1 |
C |
G |
2: 153,239,851 (GRCm39) |
N546K |
probably damaging |
Het |
Cobll1 |
T |
A |
2: 64,956,245 (GRCm39) |
T337S |
probably benign |
Het |
Depdc1a |
A |
T |
3: 159,221,157 (GRCm39) |
I163L |
probably benign |
Het |
Flrt3 |
T |
A |
2: 140,513,304 (GRCm39) |
|
probably null |
Het |
Gm11992 |
T |
C |
11: 9,011,290 (GRCm39) |
S244P |
probably damaging |
Het |
Gm14412 |
C |
T |
2: 177,006,908 (GRCm39) |
C329Y |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm5113 |
G |
A |
7: 29,878,076 (GRCm39) |
V55M |
probably damaging |
Het |
Grhl3 |
A |
G |
4: 135,269,986 (GRCm39) |
I599T |
probably benign |
Het |
H2-Q6 |
G |
C |
17: 35,644,296 (GRCm39) |
E93Q |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,156,843 (GRCm39) |
T570A |
probably damaging |
Het |
Hspb8 |
T |
C |
5: 116,553,468 (GRCm39) |
I143M |
probably damaging |
Het |
Kif15 |
A |
G |
9: 122,821,059 (GRCm39) |
T655A |
probably damaging |
Het |
Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
Lrit1 |
T |
A |
14: 36,784,171 (GRCm39) |
C500S |
possibly damaging |
Het |
Macf1 |
A |
C |
4: 123,368,261 (GRCm39) |
C602G |
probably benign |
Het |
Mesd |
C |
T |
7: 83,546,977 (GRCm39) |
R147C |
probably damaging |
Het |
Mfge8 |
A |
T |
7: 78,793,048 (GRCm39) |
D139E |
probably benign |
Het |
Ncoa3 |
G |
A |
2: 165,892,017 (GRCm39) |
R131Q |
probably damaging |
Het |
Ncoa5 |
A |
G |
2: 164,851,309 (GRCm39) |
I188T |
probably damaging |
Het |
Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
Nhlrc1 |
T |
C |
13: 47,167,897 (GRCm39) |
H120R |
probably benign |
Het |
Otos |
T |
A |
1: 92,572,107 (GRCm39) |
H73L |
probably damaging |
Het |
Pcsk5 |
C |
T |
19: 17,492,499 (GRCm39) |
|
probably null |
Het |
Phc3 |
T |
C |
3: 30,976,348 (GRCm39) |
E740G |
possibly damaging |
Het |
Pla2g7 |
T |
C |
17: 43,922,267 (GRCm39) |
L382P |
probably damaging |
Het |
Plcd3 |
C |
A |
11: 102,969,175 (GRCm39) |
R264L |
probably benign |
Het |
Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
Ptchd4 |
A |
T |
17: 42,814,567 (GRCm39) |
I823F |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,364,463 (GRCm39) |
R828G |
probably damaging |
Het |
Spred2 |
T |
A |
11: 19,971,291 (GRCm39) |
C386* |
probably null |
Het |
Terb1 |
A |
T |
8: 105,221,805 (GRCm39) |
L165* |
probably null |
Het |
Tgm2 |
A |
T |
2: 157,969,084 (GRCm39) |
S430R |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,929,902 (GRCm39) |
I2879F |
probably damaging |
Het |
Trpm3 |
T |
G |
19: 22,896,130 (GRCm39) |
V977G |
probably damaging |
Het |
Wnt5b |
A |
C |
6: 119,417,449 (GRCm39) |
S139A |
probably benign |
Het |
Zfp820 |
C |
A |
17: 22,040,054 (GRCm39) |
V52L |
possibly damaging |
Het |
Zfyve26 |
T |
A |
12: 79,326,832 (GRCm39) |
R764* |
probably null |
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 |
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 |
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'- TACACCTCACCCTGTAGAGC -3'
(R):5'- AGTTGGACAAGCTCATCTCAGAC -3'
Sequencing Primer
(F):5'- CCCTGTAGAGCGAAGTCCATGATG -3'
(R):5'- TCTCAGACCGCCCGGAAAG -3'
|
Posted On |
2016-06-06 |