|Institutional Source||Beutler Lab|
|Gene Name||INO80 complex subunit|
|Synonyms||INO80, 2310079N15Rik, 4632409L19Rik, Inoc1|
|Is this an essential gene?||Probably essential (E-score: 0.968)|
|Stock #||R5502 (G1)|
|Chromosomal Location||119373042-119477687 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 119402396 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 1147 (Y1147C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051845 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049920] [ENSMUST00000110808]|
|Predicted Effect||probably damaging
AA Change: Y1147C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y1147C
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8861|
|Coding Region Coverage||
|Validation Efficiency||98% (84/86)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Embryos homozygous for a knock-out allele die around E7.5 and show absence of anterior and distal visceral endoderm. Another null allele results in embryonic lethality by E13.5-E14.5 with severe growth retardation and developmental defects. Heterozygotes show defects in hindlimb extension reflex. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ino80||
(F):5'- TGGACACACATGCACACAT -3'
(R):5'- TCTGAGTTGATCTTGAATTTCAGGAAT -3'
(F):5'- GCAAAAGGTGCACACTAG -3'
(R):5'- CTGGTATGGATAAAGTTGGC -3'