Incidental Mutation 'IGL02538:Fezf1'
| ID |
297598 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fezf1
|
| Ensembl Gene |
ENSMUSG00000029697 |
| Gene Name |
Fez family zinc finger 1 |
| Synonyms |
3110069A13Rik, Zfp312-like, Fez |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
23245043-23248361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23246557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 342
(K342N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031709]
|
| AlphaFold |
Q0VDQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031709
AA Change: K342N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: K342N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
114 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
260 |
282 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
288 |
310 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
316 |
338 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
344 |
366 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
372 |
394 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
400 |
423 |
1.38e-3 |
SMART |
|
low complexity region
|
441 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202489
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a null mutation of this gene display neonatal lethality, impaired olfactory bulb development and impaired olfactory bulb interneuron migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,136,949 (GRCm39) |
I171L |
possibly damaging |
Het |
| Amdhd1 |
C |
T |
10: 93,363,108 (GRCm39) |
V327I |
probably damaging |
Het |
| Ankrd1 |
T |
C |
19: 36,092,456 (GRCm39) |
H257R |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,233,523 (GRCm39) |
R595H |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,307,658 (GRCm39) |
T1531A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,982,435 (GRCm39) |
S1001P |
unknown |
Het |
| Btn1a1 |
T |
C |
13: 23,643,385 (GRCm39) |
T355A |
possibly damaging |
Het |
| Cd22 |
G |
T |
7: 30,576,985 (GRCm39) |
N107K |
probably benign |
Het |
| Ceacam10 |
A |
G |
7: 24,477,908 (GRCm39) |
H141R |
probably damaging |
Het |
| Chil3 |
T |
C |
3: 106,071,445 (GRCm39) |
D73G |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,125,048 (GRCm39) |
Q1536* |
probably null |
Het |
| Dmgdh |
T |
A |
13: 93,845,261 (GRCm39) |
I418K |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,938,722 (GRCm39) |
|
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,678,523 (GRCm39) |
I110V |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,096 (GRCm39) |
Y221C |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,869,047 (GRCm39) |
|
probably benign |
Het |
| Gm8126 |
A |
T |
14: 43,117,047 (GRCm39) |
R63W |
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,049,345 (GRCm39) |
K203E |
probably benign |
Het |
| Iigp1c |
A |
T |
18: 60,378,944 (GRCm39) |
K160* |
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,623,088 (GRCm39) |
M393V |
probably null |
Het |
| Kbtbd11 |
A |
G |
8: 15,078,841 (GRCm39) |
D480G |
probably damaging |
Het |
| Klhl1 |
T |
C |
14: 96,477,649 (GRCm39) |
N473S |
probably benign |
Het |
| Krt1c |
A |
G |
15: 101,719,589 (GRCm39) |
S694P |
unknown |
Het |
| Lhfpl6 |
C |
T |
3: 52,950,732 (GRCm39) |
A2V |
probably benign |
Het |
| Lipk |
T |
A |
19: 34,024,279 (GRCm39) |
L354Q |
probably damaging |
Het |
| Luzp2 |
T |
A |
7: 54,861,546 (GRCm39) |
L225* |
probably null |
Het |
| Mknk1 |
C |
T |
4: 115,717,288 (GRCm39) |
Q58* |
probably null |
Het |
| Mmut |
A |
T |
17: 41,249,510 (GRCm39) |
I162F |
probably damaging |
Het |
| Nol11 |
T |
A |
11: 107,064,199 (GRCm39) |
M518L |
probably benign |
Het |
| Nubpl |
T |
C |
12: 52,357,477 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
T |
A |
2: 80,474,563 (GRCm39) |
S93R |
possibly damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,816 (GRCm39) |
|
probably benign |
Het |
| Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
| Pex3 |
T |
C |
10: 13,411,344 (GRCm39) |
E178G |
possibly damaging |
Het |
| Rad23b |
C |
A |
4: 55,370,457 (GRCm39) |
P161Q |
possibly damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,178,716 (GRCm39) |
S1128P |
probably damaging |
Het |
| Terb2 |
T |
C |
2: 122,035,289 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,603,942 (GRCm39) |
Y96C |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,022,339 (GRCm39) |
D830G |
possibly damaging |
Het |
| Uri1 |
A |
G |
7: 37,664,916 (GRCm39) |
S259P |
probably benign |
Het |
| Usp38 |
A |
T |
8: 81,712,187 (GRCm39) |
L616H |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,125,269 (GRCm39) |
C73S |
probably damaging |
Het |
| Wdr7 |
C |
A |
18: 63,929,306 (GRCm39) |
D1047E |
probably benign |
Het |
|
| Other mutations in Fezf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Fezf1
|
APN |
6 |
23,247,842 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02983:Fezf1
|
APN |
6 |
23,247,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03372:Fezf1
|
APN |
6 |
23,246,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Fezf1
|
UTSW |
6 |
23,246,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Fezf1
|
UTSW |
6 |
23,247,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Fezf1
|
UTSW |
6 |
23,246,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1930:Fezf1
|
UTSW |
6 |
23,246,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Fezf1
|
UTSW |
6 |
23,246,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Fezf1
|
UTSW |
6 |
23,247,331 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2104:Fezf1
|
UTSW |
6 |
23,247,331 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2233:Fezf1
|
UTSW |
6 |
23,246,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Fezf1
|
UTSW |
6 |
23,247,283 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3950:Fezf1
|
UTSW |
6 |
23,247,419 (GRCm39) |
nonsense |
probably null |
|
|
R4209:Fezf1
|
UTSW |
6 |
23,246,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4400:Fezf1
|
UTSW |
6 |
23,247,709 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4614:Fezf1
|
UTSW |
6 |
23,247,857 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5287:Fezf1
|
UTSW |
6 |
23,248,010 (GRCm39) |
missense |
probably benign |
|
|
R5878:Fezf1
|
UTSW |
6 |
23,247,580 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5943:Fezf1
|
UTSW |
6 |
23,246,948 (GRCm39) |
nonsense |
probably null |
|
|
R5952:Fezf1
|
UTSW |
6 |
23,247,427 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6663:Fezf1
|
UTSW |
6 |
23,247,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7158:Fezf1
|
UTSW |
6 |
23,245,789 (GRCm39) |
missense |
probably benign |
|
|
R7184:Fezf1
|
UTSW |
6 |
23,247,835 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8679:Fezf1
|
UTSW |
6 |
23,247,769 (GRCm39) |
missense |
probably benign |
|
|
R9137:Fezf1
|
UTSW |
6 |
23,246,511 (GRCm39) |
splice site |
probably benign |
|
|
R9294:Fezf1
|
UTSW |
6 |
23,245,797 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9510:Fezf1
|
UTSW |
6 |
23,247,845 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9668:Fezf1
|
UTSW |
6 |
23,247,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0025:Fezf1
|
UTSW |
6 |
23,247,908 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation