|Institutional Source||Beutler Lab|
|Gene Name||Fez family zinc finger 1|
|Synonyms||Zfp312-like, 3110069A13Rik, Fez|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7184 (G1)|
|Chromosomal Location||23245044-23248362 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 23247836 bp|
|Amino Acid Change||Valine to Alanine at position 80 (V80A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031709 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031709]|
|Predicted Effect||probably benign
AA Change: V80A
PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: V80A
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
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||
|Other mutations in Fezf1||
(F):5'- ACCCATGGCGTGAAACGAAG -3'
(R):5'- TGAGCACATCTAAACCCTTGGC -3'
(F):5'- ACTGCTGTAGTGGCAATGC -3'
(R):5'- GGCTTTCTCCATCGAACGAATCATG -3'