|Institutional Source||Beutler Lab|
|Gene Name||Fanconi anemia, complementation group M|
|Is this an essential gene?||Probably essential (E-score: 0.894)|
|Stock #||R6137 (G1)|
|Chromosomal Location||65075603-65132058 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 65130382 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 2000 (L2000P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054797 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052201] [ENSMUST00000058889] [ENSMUST00000222540]|
AA Change: L2000P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: L2000P
|Meta Mutation Damage Score||0.7795|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
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 M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female transmission, hypogonadism, premature death, and increased incidence of tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fancm||
(F):5'- TGCATCTCTATCATGAGCCAG -3'
(R):5'- AGTTTGTTTCACGGTCCAATC -3'
(F):5'- GCTCCCCTGAAGAAATCT -3'
(R):5'- CACGGTCCAATCAAAATGATTATGG -3'