|Institutional Source||Beutler Lab|
|Gene Name||Fanconi anemia, complementation group A|
|Essential gene?||Possibly essential (E-score: 0.658)|
|Stock #||R7599 (G1)|
|Chromosomal Location||123268300-123318576 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 123271260 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 1229 (V1229A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045217 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001092] [ENSMUST00000035495] [ENSMUST00000127664]|
AA Change: V1229A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V1229A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fanca||
(F):5'- CACTGGCTGGTAGCTTTATTCTAAG -3'
(R):5'- TTTGAGAGGAGAGCCCCTTG -3'
(F):5'- GCTTTATTCTAAGTTGTAATGCAGGC -3'
(R):5'- GCCCCTTGCTGTTAAACAC -3'