Incidental Mutation 'R6663:Fezf1'
ID |
526871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fezf1
|
Ensembl Gene |
ENSMUSG00000029697 |
Gene Name |
Fez family zinc finger 1 |
Synonyms |
3110069A13Rik, Zfp312-like, Fez |
MMRRC Submission |
044783-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6663 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
23245043-23248361 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23247527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 183
(S183P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031709]
|
AlphaFold |
Q0VDQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031709
AA Change: S183P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031709 Gene: ENSMUSG00000029697 AA Change: S183P
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
100% (32/32) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
Csn1s1 |
T |
C |
5: 87,823,599 (GRCm39) |
V154A |
probably benign |
Het |
Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
Cyp2j9 |
C |
A |
4: 96,467,679 (GRCm39) |
W269L |
probably benign |
Het |
Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
Irx2 |
A |
G |
13: 72,777,248 (GRCm39) |
Y23C |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
Kifc1 |
A |
G |
17: 34,100,430 (GRCm39) |
|
probably benign |
Het |
Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
Med6 |
T |
A |
12: 81,628,649 (GRCm39) |
D80V |
possibly damaging |
Het |
Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
Or4p20 |
T |
A |
2: 88,253,694 (GRCm39) |
N225I |
probably benign |
Het |
Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
Tbccd1 |
AT |
ATGT |
16: 22,652,778 (GRCm39) |
|
probably null |
Het |
Ube2j1 |
C |
T |
4: 33,045,198 (GRCm39) |
S157L |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
probably damaging |
Het |
Zup1 |
A |
G |
10: 33,825,431 (GRCm39) |
M17T |
possibly damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGAAAACTTTGGGCTTGGC -3'
(R):5'- TGCGCGCTAAGTCTTAAGG -3'
Sequencing Primer
(F):5'- CTGAAATCCGAGGTTTTGAAAGC -3'
(R):5'- CGCTAAGTCTTAAGGGCGAC -3'
|
Posted On |
2018-07-23 |