Incidental Mutation 'R7331:Foxn1'
| ID |
569247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxn1
|
| Ensembl Gene |
ENSMUSG00000002057 |
| Gene Name |
forkhead box N1 |
| Synonyms |
whn, D11Bhm185e, Hfh11 |
| MMRRC Submission |
045424-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7331 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78248403-78277384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78249615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 637
(Y637H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108294]
|
| AlphaFold |
Q61575 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108294
AA Change: Y637H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103929
Gene: ENSMUSG00000002057
AA Change: Y637H
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
269 |
361 |
2.43e-45 |
SMART |
|
low complexity region
|
392 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
609 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0694 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is part of the forkhead family or "winged-helix" transcription factors that are important in developmental processes, immune system regulation, metabolism, cancer and aging. This gene family has over 100 members, subdivided into classes (A-Q) based on phylogeny. The encoded protein is proposed to regulate development of the thymus and differentiation of keratinocytes. Mutations in this gene cause severe primary T-cell immunodeficiency and congenital alopecia. In mouse mutations of this gene underlie the phenotype of the nude mouse, which has been widely used as a model system in oncology, immunology, dermatology, and transplantation studies. In humans mutations in this gene have been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for different mutations have in genetically determined absence or loss of hair and failed hair keratinization, premature lethality (differing by genetic background) and absence of thymus, resulting in multiple immune abnormalities. Heterozygotes have enlarged thymuses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,331,728 (GRCm39) |
H47L |
possibly damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,748,484 (GRCm39) |
S438P |
probably damaging |
Het |
| Atg16l2 |
C |
A |
7: 100,948,255 (GRCm39) |
K96N |
probably damaging |
Het |
| Bglap2 |
A |
T |
3: 88,285,567 (GRCm39) |
M35K |
possibly damaging |
Het |
| Btbd1 |
T |
A |
7: 81,465,720 (GRCm39) |
I209L |
probably damaging |
Het |
| Cdc34 |
T |
C |
10: 79,521,146 (GRCm39) |
Y148H |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,575,394 (GRCm39) |
D157G |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,458,021 (GRCm39) |
|
probably null |
Het |
| Ctsj |
G |
A |
13: 61,151,645 (GRCm39) |
S90L |
probably benign |
Het |
| Cycs |
A |
G |
6: 50,542,532 (GRCm39) |
F37L |
probably benign |
Het |
| Dync2li1 |
T |
A |
17: 84,955,086 (GRCm39) |
C248* |
probably null |
Het |
| Dzank1 |
A |
T |
2: 144,332,190 (GRCm39) |
I382N |
probably benign |
Het |
| Eif4a3l2 |
G |
A |
6: 116,529,130 (GRCm39) |
V336I |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,739,066 (GRCm39) |
I406V |
probably damaging |
Het |
| Ero1b |
A |
G |
13: 12,615,015 (GRCm39) |
E282G |
probably damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,457,647 (GRCm39) |
N314K |
possibly damaging |
Het |
| Fbh1 |
A |
T |
2: 11,768,797 (GRCm39) |
C300S |
probably benign |
Het |
| Fchsd1 |
T |
C |
18: 38,101,823 (GRCm39) |
I49V |
possibly damaging |
Het |
| Gabarap |
A |
G |
11: 69,885,298 (GRCm39) |
E101G |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,601,792 (GRCm39) |
R22G |
probably damaging |
Het |
| Gm7694 |
A |
T |
1: 170,129,180 (GRCm39) |
D116E |
possibly damaging |
Het |
| Gm9508 |
A |
G |
10: 77,532,629 (GRCm39) |
C147R |
unknown |
Het |
| Gpr152 |
A |
G |
19: 4,192,608 (GRCm39) |
M50V |
probably damaging |
Het |
| Hunk |
T |
A |
16: 90,269,450 (GRCm39) |
N331K |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,162,409 (GRCm39) |
T351A |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,500,393 (GRCm39) |
V287A |
possibly damaging |
Het |
| Lix1 |
A |
T |
17: 17,647,474 (GRCm39) |
T47S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,553,622 (GRCm39) |
|
probably null |
Het |
| Nup107 |
G |
A |
10: 117,606,103 (GRCm39) |
T500I |
probably damaging |
Het |
| Phf21b |
G |
C |
15: 84,675,295 (GRCm39) |
R405G |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,241,101 (GRCm39) |
V709A |
probably damaging |
Het |
| Psme3ip1 |
T |
A |
8: 95,309,564 (GRCm39) |
K143* |
probably null |
Het |
| Rfc1 |
T |
C |
5: 65,468,387 (GRCm39) |
T109A |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,203,941 (GRCm39) |
V302A |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,760,517 (GRCm39) |
I1522T |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,594,010 (GRCm39) |
R2578L |
possibly damaging |
Het |
| Scgb2b18 |
C |
T |
7: 32,872,681 (GRCm39) |
W41* |
probably null |
Het |
| Sdccag8 |
C |
G |
1: 176,695,856 (GRCm39) |
Q387E |
possibly damaging |
Het |
| Slc25a17 |
G |
A |
15: 81,213,346 (GRCm39) |
T119M |
probably damaging |
Het |
| Slc45a4 |
G |
T |
15: 73,477,489 (GRCm39) |
Q16K |
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,311,880 (GRCm39) |
T47A |
probably benign |
Het |
| Stard6 |
A |
G |
18: 70,616,553 (GRCm39) |
R71G |
probably damaging |
Het |
| Tecr |
A |
G |
8: 84,298,564 (GRCm39) |
V321A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,195,218 (GRCm39) |
F290L |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,753,731 (GRCm39) |
V48A |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,308 (GRCm39) |
I258N |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,737,655 (GRCm39) |
E249V |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,601,559 (GRCm39) |
T66A |
possibly damaging |
Het |
| Zyx |
A |
G |
6: 42,328,593 (GRCm39) |
H230R |
probably benign |
Het |
|
| Other mutations in Foxn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Foxn1
|
APN |
11 |
78,262,109 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01391:Foxn1
|
APN |
11 |
78,252,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01737:Foxn1
|
APN |
11 |
78,251,732 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02669:Foxn1
|
APN |
11 |
78,261,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03276:Foxn1
|
APN |
11 |
78,261,950 (GRCm39) |
missense |
probably benign |
0.16 |
|
Nudnik
|
UTSW |
11 |
78,252,438 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0200:Foxn1
|
UTSW |
11 |
78,251,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Foxn1
|
UTSW |
11 |
78,261,970 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0739:Foxn1
|
UTSW |
11 |
78,249,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1112:Foxn1
|
UTSW |
11 |
78,261,856 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1167:Foxn1
|
UTSW |
11 |
78,249,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1251:Foxn1
|
UTSW |
11 |
78,249,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1474:Foxn1
|
UTSW |
11 |
78,251,933 (GRCm39) |
missense |
probably benign |
|
|
R1506:Foxn1
|
UTSW |
11 |
78,256,761 (GRCm39) |
splice site |
probably benign |
|
|
R1616:Foxn1
|
UTSW |
11 |
78,249,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1795:Foxn1
|
UTSW |
11 |
78,262,051 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1905:Foxn1
|
UTSW |
11 |
78,262,636 (GRCm39) |
splice site |
probably null |
|
|
R1906:Foxn1
|
UTSW |
11 |
78,262,636 (GRCm39) |
splice site |
probably null |
|
|
R1975:Foxn1
|
UTSW |
11 |
78,256,763 (GRCm39) |
splice site |
probably benign |
|
|
R1976:Foxn1
|
UTSW |
11 |
78,256,763 (GRCm39) |
splice site |
probably benign |
|
|
R2206:Foxn1
|
UTSW |
11 |
78,249,630 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2207:Foxn1
|
UTSW |
11 |
78,249,630 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2988:Foxn1
|
UTSW |
11 |
78,249,603 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2989:Foxn1
|
UTSW |
11 |
78,249,603 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5015:Foxn1
|
UTSW |
11 |
78,261,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5140:Foxn1
|
UTSW |
11 |
78,252,459 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5533:Foxn1
|
UTSW |
11 |
78,256,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6712:Foxn1
|
UTSW |
11 |
78,252,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Foxn1
|
UTSW |
11 |
78,251,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7176:Foxn1
|
UTSW |
11 |
78,251,693 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7515:Foxn1
|
UTSW |
11 |
78,261,970 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7562:Foxn1
|
UTSW |
11 |
78,261,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Foxn1
|
UTSW |
11 |
78,256,790 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8838:Foxn1
|
UTSW |
11 |
78,252,438 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9255:Foxn1
|
UTSW |
11 |
78,252,399 (GRCm39) |
nonsense |
probably null |
|
|
R9512:Foxn1
|
UTSW |
11 |
78,262,035 (GRCm39) |
missense |
|
|
|
X0067:Foxn1
|
UTSW |
11 |
78,252,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGGTAGCATCCTAGATGG -3'
(R):5'- GACGTCATCCTCCATGTTGC -3'
Sequencing Primer
(F):5'- AGATGGATGCCCCCAACTTCTG -3'
(R):5'- TGTTGCCACCCCCACCAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation