|Institutional Source||Beutler Lab|
|Gene Name||autocrine motility factor receptor|
|Is this an essential gene?||Possibly essential (E-score: 0.654)|
|Stock #||R1450 (G1)|
|Chromosomal Location||93971588-94012842 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 93987747 bp|
|Amino Acid Change||Threonine to Alanine at position 223 (T223A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052258 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053766]|
|Predicted Effect||probably benign
AA Change: T223A
PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: T223A
|Meta Mutation Damage Score||0.146|
|Coding Region Coverage||
|Validation Efficiency||96% (73/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice for a gene-trapped null allele are obese and develop liver steatosis and/or hepatic inflammation resembling nonalcoholic steatohepatitis. Some mice develop liver tumors. Mice homozygous for another knock-out allele exhibit normal HMGCR turnover in mouse embryonic fibroblasts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Amfr||
(F):5'- AGCTCCATGACAAAGTCGGTGTAATAC -3'
(R):5'- AAGGCTCAGCACAAGCTGATCTC -3'
(F):5'- CGGTGTAATACACATAGGTTCCC -3'
(R):5'- CTCCTGGGTTAGGAAGATATTCCTC -3'