|Institutional Source||Beutler Lab|
|Gene Name||transaldolase 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.449)|
|Stock #||R6284 (G1)|
|Chromosomal Location||141392199-141402968 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 141398583 bp (GRCm38)|
|Amino Acid Change||Serine to Threonine at position 149 (S149T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000147332 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026576] [ENSMUST00000211654]|
AA Change: S104T
PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: S104T
AA Change: S149T
PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
FUNCTION: This gene encodes a key enzyme of the nonoxidative pentose phosphate pathway that provides ribose-5-phosphate for nucleic acid synthesis and nicotinamide adenine dinucleotide phosphate (NADPH) for lipid biosynthesis. The encoded protein is important for maintaining structure and function of mitochondria. Studies in knockout mice identify that deficiency of this gene product is a cause of sperm dysmotility and male infertility. Deficiency of this protein has also been identified as a cause of hepatocarcinogenesis in mice. Two related pseudogenes have been identified on chromosome 10. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous mutation of this gene results in male infertility due to defective sperm motility because of functional and structural defects of mitochondria in the sperm. Heterozygous mice show reduced male fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Taldo1||
(F):5'- ATAGGTTACCCCAACGCCTTC -3'
(R):5'- GACCAGCCATTAGTCAGAAAGCTC -3'
(F):5'- CATCATAGATGGTTGTGAGCCACC -3'
(R):5'- GCCATTAGTCAGAAAGCTCTAGAAC -3'