|Institutional Source||Beutler Lab|
|Gene Name||chromodomain helicase DNA binding protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0128 (G1)|
|Chromosomal Location||15704967-15772610 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 17393567 bp|
|Amino Acid Change||Asparagine to Serine at position 531 (N531S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024620 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024620]|
|Predicted Effect||probably damaging
AA Change: N531S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N531S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.238|
|Coding Region Coverage||
|Validation Efficiency||99% (84/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with arrest of epiblast development due to increased apoptosis and cell cycle defects, abnormal rostral-caudal axis patterning, and failure to gastrulate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chd1||
(F):5'- TCACTAGGTGGCACTCTAGCAGTT -3'
(R):5'- GGCAGAGTCTGAACATCACAGTGAA -3'
(F):5'- AAAACTTTCAACAGCTTCTCCTG -3'
(R):5'- AGACCTTGGAAGCTCTGAGTC -3'