Incidental Mutation 'IGL02983:Fezf1'
| ID |
406612 |
| 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 # |
IGL02983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
23245043-23248361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23247871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 68
(N68I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031709]
|
| AlphaFold |
Q0VDQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031709
AA Change: N68I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: N68I
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,240,663 (GRCm39) |
N842S |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,029,950 (GRCm39) |
I565V |
probably benign |
Het |
| Camta2 |
C |
T |
11: 70,562,848 (GRCm39) |
R959Q |
probably damaging |
Het |
| Cbln2 |
A |
G |
18: 86,731,504 (GRCm39) |
E104G |
probably benign |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,995 (GRCm39) |
K132R |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,117,442 (GRCm39) |
I452F |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,526 (GRCm39) |
|
probably null |
Het |
| Crat |
A |
C |
2: 30,294,538 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,197,750 (GRCm39) |
K227R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,273,863 (GRCm39) |
I588N |
probably damaging |
Het |
| Dip2b |
G |
T |
15: 100,029,903 (GRCm39) |
R98L |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,002,119 (GRCm39) |
P1617L |
probably damaging |
Het |
| Fa2h |
C |
T |
8: 112,073,154 (GRCm39) |
|
probably null |
Het |
| Gabrb2 |
A |
T |
11: 42,312,227 (GRCm39) |
L17F |
probably benign |
Het |
| Gm17078 |
T |
C |
14: 51,848,647 (GRCm39) |
K30R |
probably benign |
Het |
| Gramd4 |
G |
A |
15: 86,011,219 (GRCm39) |
V249M |
probably damaging |
Het |
| Kcnd2 |
A |
C |
6: 21,216,554 (GRCm39) |
D86A |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,386,068 (GRCm39) |
E3486G |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,646 (GRCm39) |
D50G |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,997 (GRCm39) |
Y167* |
probably null |
Het |
| Nat14 |
G |
A |
7: 4,927,127 (GRCm39) |
A100T |
probably damaging |
Het |
| Nscme3l |
A |
G |
19: 5,553,209 (GRCm39) |
F191L |
possibly damaging |
Het |
| Nxph2 |
T |
C |
2: 23,290,374 (GRCm39) |
V242A |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,649 (GRCm39) |
I287N |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,918,207 (GRCm39) |
V126A |
probably damaging |
Het |
| Or2a55-ps1 |
T |
C |
6: 43,071,582 (GRCm39) |
|
noncoding transcript |
Het |
| Or6c219 |
T |
A |
10: 129,781,058 (GRCm39) |
N291I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,099,697 (GRCm39) |
E356G |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,497,040 (GRCm39) |
L358S |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,847,876 (GRCm39) |
T4A |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,508 (GRCm39) |
S207P |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,222,976 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,177,142 (GRCm39) |
T642A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,678,725 (GRCm39) |
M277K |
possibly damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,741 (GRCm39) |
D45G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,848 (GRCm39) |
I565V |
probably benign |
Het |
| Zfp526 |
C |
T |
7: 24,923,840 (GRCm39) |
A33V |
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 |
|
IGL02538:Fezf1
|
APN |
6 |
23,246,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation