|Institutional Source||Beutler Lab|
|Gene Name||single-minded family bHLH transcription factor 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7300 (G1)|
|Chromosomal Location||50894754-50989152 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 50909518 bp|
|Amino Acid Change||Histidine to Tyrosine at position 228 (H228Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020071 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020071]|
|Predicted Effect||probably benign
AA Change: H228Y
PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: H228Y
|Coding Region Coverage||
|Validation Efficiency||94% (45/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene die at birth with abnormalities in the paraventricular and supraoptic nuclei. Heterozygous mutant mice are obese and may also be diabetic, hyperinsulinemic and insulin resistant. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sim1||
(F):5'- AAAGCTTTTGTGGCCAAGTG -3'
(R):5'- CCCGCAAAATGGGCTAGTAAG -3'
(F):5'- GTGGAATTTTACTGTGTTTCAACTCC -3'
(R):5'- GTAAGATCAAGGGACAGCTCTCTCTC -3'