|Institutional Source||Beutler Lab|
|Gene Name||NIPBL cohesin loading factor|
|Is this an essential gene?||Probably essential (E-score: 0.984)|
|Stock #||R2163 (G1)|
|Chromosomal Location||8290617-8444463 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 8336919 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 1229 (K1229E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059385 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052965]|
|Predicted Effect||probably damaging
AA Change: K1229E
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: K1229E
|Meta Mutation Damage Score||0.28|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice are embryonic lethal. Heterozygous null mice are growth-retarded and show various skeletal anomalies. Heterozygotes for a gene-trap allele are small and show craniofacial, heart, eye, hearing and behavioral defects, delayed bone maturation, reduced body fat, and postnatal mortality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nipbl||
(F):5'- AATCCATTCTTCTGTCAATGCACAC -3'
(R):5'- GCTTACGTGTGGTTTACAGAACTC -3'
(F):5'- CTGTCAATGCACACATAATTTTGG -3'
(R):5'- CGTGTGGTTTACAGAACTCTGAAAC -3'