|Institutional Source||Beutler Lab|
|Gene Name||FRA10AC1 homolog (human)|
|Is this an essential gene?||Probably essential (E-score: 0.834)|
|Stock #||R5445 (G1)|
|Chromosomal Location||38188481-38224138 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 38219462 bp|
|Amino Acid Change||Aspartic acid to Valine at position 72 (D72V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070534 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067167]|
|Predicted Effect||possibly damaging
AA Change: D72V
PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D72V
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fra10ac1||
(F):5'- TGAGCAAGCCTGACAAGAAC -3'
(R):5'- AGGTGGCCCATAAACAAGTC -3'
(F):5'- CCCTTTTAAGTTCCTGGACTTTAAAG -3'
(R):5'- CAGACTTGCTCGACAGGTGTG -3'