|Institutional Source||Beutler Lab|
|Gene Name||butyrophilin, subfamily 1, member A1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5554 (G1)|
|Chromosomal Location||23456992-23465901 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 23459125 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 385 (F385I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041013 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041674] [ENSMUST00000110434]|
|Predicted Effect||possibly damaging
AA Change: F385I
PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: F385I
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2236|
|Coding Region Coverage||
|Validation Efficiency||97% (73/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired lactation and abnormal lipid accumulation in the mammary gland. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Btn1a1||
(F):5'- TTGAACAGATGGTCAGGGGC -3'
(R):5'- AAGATTCACGTCAGATCCTGC -3'
(F):5'- TCAGGGGCTTTTTACCACAGGAC -3'
(R):5'- ACGTCAGATCCTGCCTGATAG -3'