|Institutional Source||Beutler Lab|
|Gene Name||glyceraldehyde-3-phosphate dehydrogenase, spermatogenic|
|Essential gene?||Probably non essential (E-score: 0.250)|
|Stock #||R7622 (G1)|
|Chromosomal Location||30729775-30743681 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 30739331 bp (GRCm38)|
|Amino Acid Change||Threonine to Isoleucine at position 9 (T9I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074317 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074758] [ENSMUST00000182634]|
|AlphaFold||no structure available at present|
AA Change: T9I
AA Change: T9I
|Meta Mutation Damage Score||0.1082|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility and asthenozoospermia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gapdhs||
(F):5'- GGGTCTCAGGACTCTAAGTACC -3'
(R):5'- GGTGGCCTTGAAATCCTCAG -3'
(F):5'- TCAGGACTCTAAGTACCCTGGG -3'
(R):5'- CAGTGTGGGACTCTCAAAAGCTTC -3'