Incidental Mutation 'IGL02268:Tpi1'
ID286977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpi1
Ensembl Gene ENSMUSG00000023456
Gene Nametriosephosphate isomerase 1
SynonymsTpi-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02268
Quality Score
Status
Chromosome6
Chromosomal Location124810586-124814296 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 124814124 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 50 (T50I)
Ref Sequence ENSEMBL: ENSMUSP00000130858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047510] [ENSMUST00000047760] [ENSMUST00000052727] [ENSMUST00000112473] [ENSMUST00000122110] [ENSMUST00000130160] [ENSMUST00000143040] [ENSMUST00000149610] [ENSMUST00000172132]
Predicted Effect probably benign
Transcript: ENSMUST00000047510
SMART Domains Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Blast:ZnF_UBP 29 78 4e-19 BLAST
ZnF_UBP 198 253 6.47e-27 SMART
low complexity region 497 516 N/A INTRINSIC
UBA 656 694 3.12e-7 SMART
UBA 724 761 8.63e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047760
SMART Domains Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
SOCS 219 264 7.93e-13 SMART
SOCS_box 225 264 8.27e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052727
SMART Domains Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
SOCS 219 264 7.93e-13 SMART
SOCS_box 225 264 8.27e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112473
SMART Domains Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122110
SMART Domains Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Blast:ZnF_UBP 29 78 4e-19 BLAST
ZnF_UBP 198 253 6.47e-27 SMART
low complexity region 497 516 N/A INTRINSIC
UBA 633 671 3.12e-7 SMART
UBA 701 738 8.63e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130160
SMART Domains Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451

DomainStartEndE-ValueType
SPRY 86 208 1.1e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139716
Predicted Effect probably benign
Transcript: ENSMUST00000143040
SMART Domains Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149610
SMART Domains Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

DomainStartEndE-ValueType
Pfam:TIM 1 163 1.1e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154883
Predicted Effect probably benign
Transcript: ENSMUST00000172132
AA Change: T50I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456
AA Change: T50I

DomainStartEndE-ValueType
Pfam:TIM 57 295 9.2e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204602
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous null mutants die at postimplantation stage. Heterozygotes are normal, but with 50% of normal enzyme activity. Mice heterozygous or homozygous for a hyperactivity allele are otherwise normal. Mice homozygous for a chemically induced allele exhibit symptoms of hemolytic anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500015O10Rik T A 1: 43,730,951 C23S probably damaging Het
2310057J18Rik C T 10: 28,986,246 C16Y probably benign Het
5330417C22Rik C A 3: 108,467,797 A585S probably benign Het
Abca13 C T 11: 9,290,626 L830F probably benign Het
Apcdd1 T C 18: 62,950,188 V363A probably damaging Het
Cachd1 A G 4: 100,952,097 I260V possibly damaging Het
Cass4 T A 2: 172,427,042 M350K possibly damaging Het
Ccdc129 A T 6: 55,884,688 probably benign Het
Ccnjl A G 11: 43,579,788 T128A probably benign Het
Cd6 C T 19: 10,796,388 G361D probably benign Het
Cdh22 T C 2: 165,123,719 probably benign Het
Ces2h T A 8: 105,019,940 F475Y probably benign Het
Col15a1 A T 4: 47,245,380 T44S probably damaging Het
Cplx3 C T 9: 57,602,458 E86K possibly damaging Het
Crbn A G 6: 106,795,043 V100A possibly damaging Het
D430041D05Rik C A 2: 104,241,155 V1267L possibly damaging Het
F930017D23Rik A G 10: 43,604,409 noncoding transcript Het
Fam214b T A 4: 43,036,468 R88* probably null Het
Fastkd3 A G 13: 68,583,677 D39G probably damaging Het
Gm17689 T C 9: 36,581,870 Y52C possibly damaging Het
Golgb1 T A 16: 36,913,128 S912R probably benign Het
H2-T24 T C 17: 36,017,372 Y73C probably damaging Het
Ifna9 A T 4: 88,592,354 L11* probably null Het
Igsf10 A T 3: 59,331,152 L536* probably null Het
Kcnma1 A T 14: 23,543,076 I215K probably damaging Het
Kdm4c A C 4: 74,373,716 I857L possibly damaging Het
Kptn A T 7: 16,123,861 H229L probably benign Het
Krt32 A T 11: 100,088,141 M29K probably benign Het
Lama2 A G 10: 27,001,116 probably benign Het
Lpcat2b A C 5: 107,434,116 D437A probably damaging Het
Lrrc8c T C 5: 105,607,898 L513P probably damaging Het
Mon1a T C 9: 107,901,798 V407A possibly damaging Het
Myo5c C T 9: 75,246,237 P135L probably damaging Het
Myof C T 19: 37,954,429 V218M possibly damaging Het
Myof T A 19: 37,974,863 I429F possibly damaging Het
Nbas A G 12: 13,405,397 D1204G possibly damaging Het
Nckap1 G A 2: 80,528,618 P560S probably benign Het
Notch2 G A 3: 98,137,397 G1545D probably damaging Het
Ntrk1 G A 3: 87,781,531 H572Y probably damaging Het
Olfr314 T C 11: 58,786,725 F164L probably benign Het
Olfr873 T C 9: 20,300,292 S31P probably damaging Het
Pcdh15 A T 10: 74,342,672 D587V probably damaging Het
Pik3cb T C 9: 99,046,556 Y882C probably benign Het
Plch1 T A 3: 63,699,283 *1074C probably null Het
Plcxd1 T C 5: 110,100,274 probably benign Het
Ppp2r2d A G 7: 138,872,971 N27S probably null Het
Prkar2a A G 9: 108,746,953 M390V probably benign Het
Rab3gap1 A G 1: 127,868,958 T18A probably damaging Het
Ranbp2 T C 10: 58,493,653 probably benign Het
Rasl12 T C 9: 65,398,664 S34P probably damaging Het
Rpusd3 A T 6: 113,418,857 L65Q possibly damaging Het
Rtf2 A G 2: 172,468,719 K290R probably damaging Het
Rwdd4a T A 8: 47,550,696 L179* probably null Het
Scgb1b24 A G 7: 33,744,963 E87G possibly damaging Het
Sgo2a A G 1: 58,017,722 I1022V probably benign Het
Smg1 A C 7: 118,182,541 I1174M probably benign Het
Spata17 A T 1: 187,140,398 M72K probably damaging Het
Synpo2 G A 3: 123,116,983 P338S probably damaging Het
Trpm1 A G 7: 64,217,614 E354G probably damaging Het
Uba2 A G 7: 34,142,736 probably null Het
Wnk1 G A 6: 119,937,373 R1823* probably null Het
Zfp248 A C 6: 118,453,840 probably benign Het
Zfp51 A T 17: 21,463,419 K99* probably null Het
Other mutations in Tpi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01931:Tpi1 APN 6 124812640 missense possibly damaging 0.88
R0448:Tpi1 UTSW 6 124814103 missense probably damaging 1.00
R1649:Tpi1 UTSW 6 124812928 splice site probably null
R1838:Tpi1 UTSW 6 124814152 missense probably benign 0.01
R3749:Tpi1 UTSW 6 124812791 missense probably damaging 1.00
R4793:Tpi1 UTSW 6 124812581 intron probably benign
R6855:Tpi1 UTSW 6 124812463 missense probably damaging 0.99
R7250:Tpi1 UTSW 6 124812478 missense probably damaging 1.00
R7634:Tpi1 UTSW 6 124812854 nonsense probably null
R8791:Tpi1 UTSW 6 124812520 missense probably damaging 0.98
Posted On2015-04-16