|Institutional Source||Beutler Lab|
|Gene Name||Fanconi anemia, complementation group D2|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R8509 (G1)|
|Chromosomal Location||113531682-113597017 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 113572570 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 74 (T74A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000145220 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036340] [ENSMUST00000129462] [ENSMUST00000204827]|
AA Change: T74A
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: T74A
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
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 D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fancd2||
(F):5'- GTGGAACGAAATATGCCCTGC -3'
(R):5'- CTTAAAGCAGCAGATTCTCTTGGC -3'
(F):5'- TATGCCCTGCAGAAACTGG -3'
(R):5'- TTCTCTTGGCAAAAGGAGCAGTC -3'