|Institutional Source||Beutler Lab|
|Gene Name||inhibitor of growth family, member 2|
|Synonyms||Ing1l, P33ING2, 2810011M06Rik, ING2|
|Is this an essential gene?||Possibly non essential (E-score: 0.300)|
|Stock #||R7031 (G1)|
|Chromosomal Location||47667178-47675556 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 47668823 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 230 (D230G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079226 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080353]|
Solution structure of PHD domain in inhibitor of growth family, member 1-like [SOLUTION NMR]
Crystal structure of ING2 PHD finger in complex with H3K4Me3 peptide [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: D230G
PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: D230G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous inactivation of this gene causes impaired spermatogenesis and male infertility associated with teratozoospermia, seminiferous tubule degeneration, germ cell depletion, arrest of male meiosis and enhanced testicular apoptosis, and leads to an increased incidence of soft tissue sarcomas. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ing2||
(F):5'- AAACCGATGGCCTTCACTAC -3'
(R):5'- TCCAGTCAACCGGAAAGATC -3'
(F):5'- GATGGCCTTCACTACCTCGC -3'
(R):5'- CCAGTGAGAGCCGTGACTTATGTC -3'