|Institutional Source||Beutler Lab|
|Gene Name||forkhead box I1|
|Synonyms||Hfh3, Fkh10, HFH-3|
|Is this an essential gene?||Possibly non essential (E-score: 0.292)|
|Stock #||R4515 (G1)|
|Chromosomal Location||34204338-34208089 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 34207972 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 18 (F18L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058651 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060271]|
|Predicted Effect||probably damaging
AA Change: F18L
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: F18L
|Meta Mutation Damage Score||0.0836|
|Coding Region Coverage||
|Validation Efficiency||96% (65/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygotes exhibit 50% perinatal lethality and inner ear defects resulting in vestibular and cochlear dysfunction. They are deaf with signs of impaired balance, and develop renal tubular acidosis in response to a chronic acidic load. Notably, 25% of heterozygotes die at birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Foxi1||
(F):5'- AGGAATATGGTGGGCGTACC -3'
(R):5'- TTAGTGGGAACTAAGGCCACAG -3'
(F):5'- TGGGCGTACCAGCTTCATGAG -3'
(R):5'- CCACAGGCAGCTAAGGC -3'