|Institutional Source||Beutler Lab|
|Gene Name||chromodomain helicase DNA binding protein 2|
|Synonyms||2810040A01Rik, 2810013C04Rik, 5630401D06Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.610)|
|Stock #||R5706 (G1)|
|Chromosomal Location||73426638-73541830 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 73491357 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 596 (Y596F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126352 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000169922]|
|Predicted Effect||possibly damaging
AA Change: Y596F
PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: Y596F
|Coding Region Coverage||
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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit early postnatal lethality associated with fetal growth retardation. Mice heterozygous for a gene trap allele exhibit postnatal lethality and premature death after weaning associated with growth retardation and multi-organ defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chd2||
(F):5'- TTGCAACTGGATTAAGCCACC -3'
(R):5'- GGTTGTTCATGCAATTCTCATGAG -3'
(F):5'- CTAAGCTCCCATACGGTGAGGTTG -3'
(R):5'- GCAATTCTCATGAGACTTGTTTGC -3'