|Institutional Source||Beutler Lab|
|Gene Name||thyroid hormone responsive|
|Synonyms||Spot 14, S14|
|Is this an essential gene?||Possibly non essential (E-score: 0.259)|
|Stock #||R9294 (G1)|
|Chromosomal Location||97412938-97417730 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 97417074 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Glutamine at position 144 (E144Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042988 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043077]|
|PDB Structure||The Crystal Structure of Spot14, a modulator of lipogenesis [X-RAY DIFFRACTION]|
AA Change: E144Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E144Q
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased triglyceride during lactation and in milk produced as well as decreased de novo lipid biosynthesis in mammary tissue. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Thrsp||
(F):5'- TTCCCAAGTGATAGTCCCAATAC -3'
(R):5'- CTGTGTAGAAGTGGACCACG -3'
(F):5'- TAGTCCCAATACCCTGATGTGAGG -3'
(R):5'- GGTGGCTGGCAACGAAACC -3'