|Institutional Source||Beutler Lab|
|Gene Name||structural maintenance of chromosomes 3|
|Synonyms||SmcD, Mmip1, Bamacan, Cspg6|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8202 (G1)|
|Chromosomal Location||53600398-53645833 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 53628692 bp|
|Amino Acid Change||Isoleucine to Threonine at position 512 (I512T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025930 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025930]|
|PDB Structure||SMC hinge heterodimer (Mouse) [X-RAY DIFFRACTION]|
|Predicted Effect||possibly damaging
AA Change: I512T
PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: I512T
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smc3||
(F):5'- GAACCCACAGTTATGCAAAATGTAG -3'
(R):5'- GCACCTGCTTCTTTACAAGAAAG -3'
(F):5'- CCACAGTTATGCAAAATGTAGTTACC -3'
(R):5'- GAGGGTAATGGAAGACATATTGTTC -3'