Incidental Mutation 'R2397:Foxn4'
| ID |
248548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxn4
|
| Ensembl Gene |
ENSMUSG00000042002 |
| Gene Name |
forkhead box N4 |
| Synonyms |
|
| MMRRC Submission |
040364-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2397 (G1)
|
| Quality Score |
135 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114392225-114411868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114393556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 521
(L521P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031583]
[ENSMUST00000044790]
[ENSMUST00000102582]
[ENSMUST00000129530]
[ENSMUST00000144050]
|
| AlphaFold |
Q8K3Q3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031583
|
| SMART Domains |
Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
60 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
249 |
369 |
2.1e-32 |
PFAM |
|
Pfam:CPSase_L_D2
|
405 |
606 |
3.3e-52 |
PFAM |
|
Pfam:ATP-grasp_4
|
413 |
576 |
2.1e-9 |
PFAM |
|
Biotin_carb_C
|
640 |
747 |
9.54e-26 |
SMART |
|
Pfam:Biotin_lipoyl
|
885 |
951 |
1.9e-17 |
PFAM |
|
Pfam:ACC_central
|
952 |
1678 |
2.2e-290 |
PFAM |
|
Pfam:Carboxyl_trans
|
1770 |
2324 |
2.3e-181 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044790
AA Change: L521P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047951
Gene: ENSMUSG00000042002
AA Change: L521P
| 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: ENSMUST00000102582
|
| SMART Domains |
Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
60 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
249 |
369 |
8.2e-29 |
PFAM |
|
Pfam:CPSase_L_D2
|
405 |
606 |
3.8e-52 |
PFAM |
|
Pfam:ATP-grasp_4
|
409 |
576 |
1.4e-12 |
PFAM |
|
Biotin_carb_C
|
640 |
747 |
9.54e-26 |
SMART |
|
Pfam:Biotin_lipoyl
|
885 |
951 |
9.1e-17 |
PFAM |
|
Pfam:ACC_central
|
952 |
1678 |
2.3e-250 |
PFAM |
|
Pfam:Carboxyl_trans
|
1770 |
2324 |
4.8e-172 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144050
|
| Meta Mutation Damage Score |
0.2101 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
| Adamtsl1 |
C |
T |
4: 86,117,594 (GRCm39) |
R186W |
probably damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,622,383 (GRCm39) |
V948I |
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,730,466 (GRCm39) |
T787A |
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,964,147 (GRCm39) |
N139I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,146,244 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,201,835 (GRCm39) |
I41T |
unknown |
Het |
| Cyp2d26 |
C |
T |
15: 82,678,236 (GRCm39) |
G47R |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,405,518 (GRCm39) |
M205K |
probably benign |
Het |
| Dyrk2 |
T |
A |
10: 118,697,273 (GRCm39) |
|
probably benign |
Het |
| Echs1 |
T |
C |
7: 139,692,390 (GRCm39) |
H119R |
possibly damaging |
Het |
| Ehf |
T |
A |
2: 103,107,164 (GRCm39) |
D120V |
probably damaging |
Het |
| Esrra |
A |
G |
19: 6,897,544 (GRCm39) |
L71P |
probably damaging |
Het |
| Fam228a |
A |
T |
12: 4,768,718 (GRCm39) |
S200R |
probably benign |
Het |
| Fibcd1 |
A |
T |
2: 31,724,435 (GRCm39) |
M191K |
probably benign |
Het |
| Fscn2 |
T |
C |
11: 120,252,995 (GRCm39) |
L154P |
probably damaging |
Het |
| Gm7964 |
T |
G |
7: 83,406,321 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
T |
C |
5: 110,353,743 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,537,717 (GRCm39) |
L197P |
probably damaging |
Het |
| Heg1 |
T |
A |
16: 33,562,849 (GRCm39) |
M913K |
probably damaging |
Het |
| Ifi205 |
T |
C |
1: 173,845,141 (GRCm39) |
T214A |
possibly damaging |
Het |
| Ift140 |
T |
G |
17: 25,239,710 (GRCm39) |
D122E |
probably damaging |
Het |
| Jakmip1 |
T |
A |
5: 37,258,087 (GRCm39) |
D244E |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
| Mc2r |
T |
A |
18: 68,541,224 (GRCm39) |
D23V |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,341,260 (GRCm39) |
F47I |
probably benign |
Het |
| Nr1h3 |
G |
A |
2: 91,022,202 (GRCm39) |
T142I |
possibly damaging |
Het |
| Obox2 |
C |
T |
7: 15,130,971 (GRCm39) |
P68S |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,384,518 (GRCm39) |
V515A |
probably benign |
Het |
| Ptdss2 |
T |
A |
7: 140,727,005 (GRCm39) |
F105I |
probably benign |
Het |
| Ruvbl1 |
A |
C |
6: 88,442,534 (GRCm39) |
T9P |
possibly damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,820,407 (GRCm39) |
E8G |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,251,702 (GRCm39) |
Y303* |
probably null |
Het |
| Socs5 |
T |
C |
17: 87,442,377 (GRCm39) |
F439S |
probably damaging |
Het |
| Tcp10c |
C |
A |
17: 13,590,473 (GRCm39) |
A357E |
probably damaging |
Het |
| Tmem200c |
T |
C |
17: 69,147,942 (GRCm39) |
V175A |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,269,859 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Vmn2r54 |
T |
G |
7: 12,349,578 (GRCm39) |
Q668P |
probably damaging |
Het |
| Xrcc2 |
T |
C |
5: 25,910,708 (GRCm39) |
S3G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGTCCTGCAGAAGATGGG -3'
(R):5'- GACAGCTTCAGCCTAGACAC -3'
Sequencing Primer
(F):5'- GGAGGTAGAGGGCTTGCCATC -3'
(R):5'- TTCAGCCTAGACACGCTGGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation