|Institutional Source||Beutler Lab|
|Gene Name||tripartite motif-containing 37|
|Synonyms||MUL, 1110032A10Rik, 2810004E07Rik, TEF3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5417 (G1)|
|Chromosomal Location||87127077-87220683 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 87166679 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 313 (Y313C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049057 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041282]|
|Predicted Effect||probably damaging
AA Change: Y313C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y313C
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is part of the tripartite-motif containing family (TRIM), which is typified by the RING, B-box type 1, B-box type 2, and coiled-coil region domains. In mouse this protein is proposed to oligomerize through its coiled coil domain and has been reported to be expressed in neural crest-derived tissues as well as in tissues whose development is regulated by mesenchymal-epithelial interactions. In humans, mutations in this gene are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder characterized by prenatal onset growth failure, cardiomyopathy and dysmorphic features. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are infertile due to gonadal degeneration and exhibit late-onset weight loss, smaller skull size, non-compaction cardiomyopathy, hepatomegaly, fatty liver, altered glucose metabolism, splenomegaly, and increased tumor incidence. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trim37||
(F):5'- AGAAACTTTCTGTTGTTCAGTCTTT -3'
(R):5'- CCCTATAAAGCAGAAATACATTTCATG -3'
(F):5'- TGCTTGTTGCCATTTCATA -3'
(R):5'- GCACTGTTTTTCACAAATTGAG -3'