|Institutional Source||Beutler Lab|
|Gene Name||stromal interaction molecule 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7125 (G1)|
|Chromosomal Location||102267806-102437319 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 102435534 bp (GRCm38)|
|Amino Acid Change||Histidine to Glutamine at position 564 (H564Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033289 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033289] [ENSMUST00000209255] [ENSMUST00000211457]|
AA Change: H564Q
PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: H564Q
AA Change: H672Q
|Coding Region Coverage||
|Validation Efficiency||96% (48/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit perinatal and postnatal lethality, with all mice dying by 2 weeks of age, and severe growth retardation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stim1||
(F):5'- TCTCTTACACTGTCCTGATGACT -3'
(R):5'- CCAAGTGGGGAATTCGTGTG -3'
(F):5'- ACACTGTCCTGATGACTTACTCAAC -3'
(R):5'- TTGTCCCCAACTGGAGATGG -3'