|Institutional Source||Beutler Lab|
|Gene Name||Fanconi anemia, complementation group I|
|Essential gene?||Possibly essential (E-score: 0.649)|
|Stock #||R8429 (G1)|
|Chromosomal Location||79391929-79450264 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 79438385 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 929 (F929L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044931 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036865] [ENSMUST00000132091] [ENSMUST00000137667]|
Structure of the FANCI-FANCD2 complex [X-RAY DIFFRACTION]
Structure of a Y DNA-FANCI complex [X-RAY DIFFRACTION]
Structure of FANCI [X-RAY DIFFRACTION]
AA Change: F929L
PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: F929L
|Coding Region Coverage||
|MGI Phenotype||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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fanci||
(F):5'- GAGCTACACTATGGCGGATG -3'
(R):5'- CAGGTTCTTAATGCTGTGTTCC -3'
(F):5'- CTACACTATGGCGGATGACCAG -3'
(R):5'- CTCCAGTCACTATCTGTGCTTAAATG -3'