|Institutional Source||Beutler Lab|
|Gene Name||SMC hinge domain containing 1|
|Is this an essential gene?||Possibly essential (E-score: 0.743)|
|Stock #||R6788 (G1)|
|Chromosomal Location||71344489-71475343 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 71475101 bp|
|Amino Acid Change||Valine to Phenylalanine at position 22 (V22F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000121835 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000127430]|
|Predicted Effect||probably benign
AA Change: V22F
PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: V22F
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
PHENOTYPE: Females homozygous for an ENU-induced allele die at midgestation showing placental defects and hypomethylation at X-linked genes that are normally subject to X-inactivation, whereas homozygous males are viable. Females homozygous for a gene trap allele die before E13.5, whereas males remain healthy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smchd1||
(F):5'- AGTTTATGGCGGTGACCCAC -3'
(R):5'- AAGCGCGTTTGAATCGGTTC -3'
(F):5'- TGACCCACCCAGGCTTCAG -3'
(R):5'- CGGTTCCCGGGTTACTTC -3'