Incidental Mutation 'R2243:Taldo1'
ID 240729
Institutional Source Beutler Lab
Gene Symbol Taldo1
Ensembl Gene ENSMUSG00000025503
Gene Name transaldolase 1
Synonyms
MMRRC Submission 040243-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R2243 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140972112-140982881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 140972217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 28 (T28K)
Ref Sequence ENSEMBL: ENSMUSP00000026576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026576] [ENSMUST00000211654]
AlphaFold Q93092
PDB Structure Crystal structure of mouse transaldolase [X-RAY DIFFRACTION]
Crystal structure of mouse transaldolase [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000026576
AA Change: T28K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026576
Gene: ENSMUSG00000025503
AA Change: T28K

DomainStartEndE-ValueType
Pfam:Transaldolase 24 326 1.2e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141793
Predicted Effect probably damaging
Transcript: ENSMUST00000211654
AA Change: T28K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.7541 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (40/40)
MGI Phenotype 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
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 G A 4: 144,503,991 (GRCm39) R387C probably benign Het
Agbl1 A T 7: 76,068,470 (GRCm39) E93D possibly damaging Het
Akap10 C A 11: 61,806,327 (GRCm39) V134F possibly damaging Het
Bnc1 T C 7: 81,623,821 (GRCm39) I469V possibly damaging Het
Bod1l T A 5: 41,978,888 (GRCm39) I809L possibly damaging Het
Dicer1 T A 12: 104,696,447 (GRCm39) E118V probably damaging Het
Dmbt1 T C 7: 130,648,292 (GRCm39) F274S probably benign Het
Dnaaf2 T G 12: 69,243,418 (GRCm39) T548P possibly damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Fchsd2 A G 7: 100,883,092 (GRCm39) N240S probably benign Het
Foxb1 T C 9: 69,667,146 (GRCm39) Y128C probably damaging Het
Fxr2 A T 11: 69,532,896 (GRCm39) K158M possibly damaging Het
Golga4 C A 9: 118,385,972 (GRCm39) D1031E probably benign Het
Hbb-bs T C 7: 103,477,018 (GRCm39) D22G possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hnrnpul2 T A 19: 8,798,001 (GRCm39) M119K probably benign Het
Kif18a C A 2: 109,128,452 (GRCm39) H369Q probably damaging Het
Klhdc10 A G 6: 30,449,558 (GRCm39) T207A probably damaging Het
Lig4 A G 8: 10,022,161 (GRCm39) C540R possibly damaging Het
Lilrb4b A T 10: 51,357,704 (GRCm39) N133Y possibly damaging Het
Lrrc31 T A 3: 30,739,179 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myof C T 19: 37,889,767 (GRCm39) R2009H probably damaging Het
Nlrp2 C T 7: 5,338,597 (GRCm39) V99I probably benign Het
Or2w3b G A 11: 58,623,271 (GRCm39) T240M probably damaging Het
Pcnx1 T C 12: 81,965,479 (GRCm39) S549P probably damaging Het
Pkhd1l1 T C 15: 44,410,323 (GRCm39) F2610S probably damaging Het
S100a14 A G 3: 90,435,114 (GRCm39) T42A possibly damaging Het
Serpina6 T A 12: 103,613,187 (GRCm39) Y371F probably benign Het
Slc43a3 T C 2: 84,778,782 (GRCm39) probably benign Het
Tatdn3 T C 1: 190,785,097 (GRCm39) Y184C probably damaging Het
Tep1 G C 14: 51,091,667 (GRCm39) R625G probably benign Het
Timm44 A T 8: 4,317,871 (GRCm39) I179N possibly damaging Het
Uimc1 A T 13: 55,198,552 (GRCm39) probably null Het
Vmn1r68 A T 7: 10,262,089 (GRCm39) V3E probably damaging Het
Zer1 A T 2: 29,991,139 (GRCm39) F683L probably damaging Het
Other mutations in Taldo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02110:Taldo1 APN 7 140,982,647 (GRCm39) splice site probably benign
R1470:Taldo1 UTSW 7 140,978,500 (GRCm39) missense probably damaging 1.00
R1470:Taldo1 UTSW 7 140,978,500 (GRCm39) missense probably damaging 1.00
R2060:Taldo1 UTSW 7 140,976,067 (GRCm39) missense probably damaging 1.00
R5610:Taldo1 UTSW 7 140,972,205 (GRCm39) missense probably damaging 1.00
R6284:Taldo1 UTSW 7 140,978,496 (GRCm39) missense possibly damaging 0.76
R8376:Taldo1 UTSW 7 140,981,788 (GRCm39) missense probably damaging 0.97
R9757:Taldo1 UTSW 7 140,980,263 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- CGTCAGGCTTCATTTAGCTTTG -3'
(R):5'- CAGGGAGACTTTCTCGGACTAC -3'

Sequencing Primer
(F):5'- GCTTTGATTGGCCAGGACGC -3'
(R):5'- GCTCCCAGGGTCACCAATAG -3'
Posted On 2014-10-15