|Institutional Source||Beutler Lab|
|Gene Name||StAR-related lipid transfer (START) domain containing 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0462 (G1)|
|Chromosomal Location||33199355-33213862 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 33205149 bp (GRCm38)|
|Amino Acid Change||Arginine to Histidine at position 116 (R116H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025236 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025236] [ENSMUST00000118990] [ENSMUST00000119991]|
|AlphaFold||no structure available at present|
AA Change: R116H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R116H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased liver weight, body weight, and body length. Female mice homozygous for this allele exhibit decreased circulating cholesterol when fed a low cholesterol diet and altered bile composition when fed standard chow. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stard4||
(F):5'- TGTCTTATCCAGAAAGACCCAGGGTAAA -3'
(R):5'- AGGTAAATGGAGGCTTAGATGCTGACT -3'
(F):5'- AGACCCAGGGTAAACTTTAAGTATC -3'
(R):5'- CACAGTATCACAGACATTTGGG -3'