|Institutional Source||Beutler Lab|
|Gene Name||structural maintenance of chromosomes 1A|
|Synonyms||Smc1alpha, SB1.8, 5830426I24Rik, Smc1l1, Smc1, SMCB|
|Is this an essential gene?||Probably essential (E-score: 0.952)|
|Stock #||R2940 (G1)|
|Chromosomal Location||152016428-152062694 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 152033699 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 516 (Y516N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044645 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045312] [ENSMUST00000145518]|
|PDB Structure||SMC hinge heterodimer (Mouse) [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: Y516N
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: Y516N
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.7968|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a disruption in this gene display increased chromosomal instability, decreased cell survival, and defective S-phase checkpoint after ionizing radiation exposure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smc1a||
(F):5'- GGGTCTTCCATCTTTTAACATGTTTAT -3'
(R):5'- GGCAAGAAGGTCTCAGGC -3'
(F):5'- GCCAAACTTCTATCTTTGGAAGGAGC -3'
(R):5'- AAGAAGGTCTCAGGCTCTCC -3'