|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0490 (G1)|
|Chromosomal Location||24261453-24280605 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 24277179 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000080081 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081333] [ENSMUST00000123684]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9488|
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit early post-implantation lethality, in the absence of intramitochondrial iron accumulation. Conditional knockouts, specific to striated muscle and neuron/striated muscle, show cardiac hypertrophy and large sensory neuron dysfunction, respectively. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fxn||
(F):5'- TGGAAAGCAAACCTTGGGCAGC -3'
(R):5'- TCCCTCAGCACTGTACCTGAGATG -3'
(F):5'- CCTGGAGAACCGTTACATTTG -3'
(R):5'- ACCTGAGATGCTGTAATTGGCTAC -3'