Incidental Mutation 'R5610:Taldo1'
ID 440306
Institutional Source Beutler Lab
Gene Symbol Taldo1
Ensembl Gene ENSMUSG00000025503
Gene Name transaldolase 1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R5610 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140972112-140982881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140972205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 24 (V24A)
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: V24A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026576
Gene: ENSMUSG00000025503
AA Change: V24A

DomainStartEndE-ValueType
Pfam:Transaldolase 24 326 1.2e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141793
Predicted Effect probably damaging
Transcript: ENSMUST00000211654
AA Change: V24A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,982,156 (GRCm39) D247G possibly damaging Het
1700123K08Rik A G 5: 138,562,403 (GRCm39) probably null Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Accsl C A 2: 93,692,118 (GRCm39) probably null Het
Adad2 C T 8: 120,341,500 (GRCm39) R171C probably benign Het
Adgrv1 A C 13: 81,669,236 (GRCm39) L2440R probably damaging Het
Antxr1 A G 6: 87,232,845 (GRCm39) V239A probably damaging Het
Aoc1l2 G A 6: 48,907,953 (GRCm39) V318I probably benign Het
Arhgap28 G A 17: 68,203,235 (GRCm39) Q73* probably null Het
Arrdc5 C T 17: 56,604,846 (GRCm39) R147H probably benign Het
Ash1l T C 3: 88,930,492 (GRCm39) Y1990H probably damaging Het
Bank1 T C 3: 135,772,148 (GRCm39) E494G probably damaging Het
Bicral A T 17: 47,119,418 (GRCm39) I701N probably damaging Het
Bod1l T C 5: 41,979,217 (GRCm39) Y699C probably damaging Het
C3ar1 T G 6: 122,827,537 (GRCm39) T227P probably benign Het
Ccr3 C A 9: 123,829,518 (GRCm39) D284E probably damaging Het
Cdh13 T C 8: 119,578,462 (GRCm39) V163A possibly damaging Het
CK137956 C T 4: 127,840,440 (GRCm39) probably null Het
Cltc T C 11: 86,612,472 (GRCm39) S529G probably benign Het
Cplane2 C T 4: 140,947,177 (GRCm39) P186L probably benign Het
Ddx11 A G 17: 66,457,021 (GRCm39) K783E probably damaging Het
Dnah3 T A 7: 119,538,288 (GRCm39) probably null Het
Eef2k A G 7: 120,486,005 (GRCm39) H408R probably benign Het
Esr1 A G 10: 4,951,221 (GRCm39) K533R probably damaging Het
Fat1 T A 8: 45,406,109 (GRCm39) Y953* probably null Het
Fosl1 T A 19: 5,505,133 (GRCm39) probably null Het
Frmd4b A G 6: 97,283,752 (GRCm39) M373T probably benign Het
Gm1968 A G 16: 29,777,557 (GRCm39) noncoding transcript Het
Gpr26 T C 7: 131,568,694 (GRCm39) V13A possibly damaging Het
Gtf3c1 T C 7: 125,303,117 (GRCm39) N106S possibly damaging Het
Itgb8 T G 12: 119,134,429 (GRCm39) E546A probably damaging Het
Itpr3 C T 17: 27,337,540 (GRCm39) T2450M probably benign Het
Kif1a A T 1: 92,953,450 (GRCm39) Y1245N probably damaging Het
Klrb1f G A 6: 129,031,335 (GRCm39) probably null Het
Lars1 A G 18: 42,390,156 (GRCm39) L37P probably benign Het
Lnpk T C 2: 74,378,369 (GRCm39) T131A probably benign Het
Mob3c C T 4: 115,690,878 (GRCm39) T156I probably benign Het
Nadk T A 4: 155,668,628 (GRCm39) W100R probably damaging Het
Npy6r A T 18: 44,409,061 (GRCm39) I161F probably benign Het
Or4c107 A C 2: 88,789,170 (GRCm39) D120A probably damaging Het
Or6c204 G A 10: 129,022,426 (GRCm39) T288I probably damaging Het
Pcdhga3 A G 18: 37,808,276 (GRCm39) E243G possibly damaging Het
Pdss2 A G 10: 43,315,828 (GRCm39) T361A probably benign Het
Pkd1l2 G T 8: 117,769,059 (GRCm39) Q1198K probably benign Het
Prdx1 T A 4: 116,550,124 (GRCm39) I102N probably damaging Het
Prss1 G A 6: 41,438,147 (GRCm39) V25I probably benign Het
Pspc1 A G 14: 57,015,388 (GRCm39) Y77H probably damaging Het
Rnf5 T C 17: 34,820,712 (GRCm39) probably benign Het
Ryr1 C A 7: 28,811,399 (GRCm39) M235I probably benign Het
Sec24c A G 14: 20,741,893 (GRCm39) Y776C probably damaging Het
Sharpin A G 15: 76,234,253 (GRCm39) probably null Het
Slc12a4 C A 8: 106,676,845 (GRCm39) V482L possibly damaging Het
Slc38a1 C T 15: 96,514,022 (GRCm39) probably null Het
Smtn G T 11: 3,479,582 (GRCm39) T495N probably damaging Het
Sncaip A G 18: 53,001,991 (GRCm39) T171A probably benign Het
Sprr2e T C 3: 92,260,399 (GRCm39) *77R probably null Het
Syngap1 T A 17: 27,178,754 (GRCm39) D443E possibly damaging Het
Tfap2c T A 2: 172,391,778 (GRCm39) N8K probably benign Het
Tmem229a T C 6: 24,955,580 (GRCm39) Y58C probably damaging Het
Tubgcp3 T C 8: 12,689,577 (GRCm39) Y563C probably damaging Het
Ubr1 T A 2: 120,722,593 (GRCm39) D1342V probably benign Het
Usp7 C T 16: 8,534,374 (GRCm39) probably null Het
Wbp1 C T 6: 83,097,216 (GRCm39) G75D probably damaging Het
Zfp180 G T 7: 23,804,315 (GRCm39) V245F probably benign Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Zfp646 T A 7: 127,478,530 (GRCm39) C236S 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
R2243:Taldo1 UTSW 7 140,972,217 (GRCm39) missense probably damaging 0.99
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'- TACTGGGGAAGAGAACTCCGAC -3'
(R):5'- TGATCCTTGAAGGTTCCGC -3'

Sequencing Primer
(F):5'- GTCTATGGCAAGGTCTCCAAGTAC -3'
(R):5'- GATCCTTGAAGGTTCCGCAAACTC -3'
Posted On 2016-11-08