|Institutional Source||Beutler Lab|
|Gene Name||non-SMC condensin I complex, subunit H|
|Synonyms||A730011O11Rik, HCAP-H, Brrn1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8699 (G1)|
|Chromosomal Location||127103809-127133954 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 127121176 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 379 (D379G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000106017 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110387]|
|Predicted Effect||possibly damaging
AA Change: D379G
PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D379G
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice die before E12.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ncaph||
(F):5'- TGCCTGACCAACATCAGTTC -3'
(R):5'- CTGGAGAGCTGTGTCTTCTC -3'
(F):5'- CAGTTCTATAATGAAGTGGGTCACC -3'
(R):5'- AGAGCTGTGTCTTCTCCTTGTAGTC -3'