|Institutional Source||Beutler Lab|
|Gene Name||glucosaminyl (N-acetyl) transferase 2, I-branching enzyme|
|Synonyms||IGnTB, IGnT, IGnTA, IGnTC, 5330430K10Rik|
|Essential gene?||Probably non essential (E-score: 0.083)|
|Stock #||R9357 (G1)|
|Chromosomal Location||40859754-40960892 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 40888256 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 297 (H297L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070942 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000069958] [ENSMUST00000110191]|
AA Change: H297L
PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: H297L
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show hypoactivity, a reduced B cell number, epidermoid cyst formation in male abdominal skin, and impaired renal function with increased blood urea nitrogen and creatinine levels and vacuolization of renal tubular epithelial cells in aging mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gcnt2||
(F):5'- TCAGTACCTGAAAGGGCTTAAGG -3'
(R):5'- GGAAGTTTACACACATTCAATACAGAC -3'
(F):5'- GCAAAGAGCTTTCCTACGTG -3'
(R):5'- CACATTCAATACAGACACATTGTTTG -3'