Incidental Mutation 'R0448:Tpi1'
ID 39445
Institutional Source Beutler Lab
Gene Symbol Tpi1
Ensembl Gene ENSMUSG00000023456
Gene Name triosephosphate isomerase 1
Synonyms Tpi-1
MMRRC Submission 038648-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0448 (G1)
Quality Score 136
Status Validated
Chromosome 6
Chromosomal Location 124787549-124791121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124791066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 57 (F57S)
Ref Sequence ENSEMBL: ENSMUSP00000130858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047510] [ENSMUST00000047760] [ENSMUST00000052727] [ENSMUST00000112473] [ENSMUST00000122110] [ENSMUST00000130160] [ENSMUST00000172132] [ENSMUST00000149610] [ENSMUST00000143040]
AlphaFold P17751
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 probably damaging
Transcript: ENSMUST00000172132
AA Change: F57S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456
AA Change: F57S

DomainStartEndE-ValueType
Pfam:TIM 57 295 9.2e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139716
Predicted Effect probably benign
Transcript: ENSMUST00000149610
SMART Domains Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

DomainStartEndE-ValueType
Pfam:TIM 1 163 1.1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143040
SMART Domains Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Meta Mutation Damage Score 0.6810 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.1%
Validation Efficiency 100% (74/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,218,687 (GRCm39) R232C probably damaging Het
Adam9 A G 8: 25,454,926 (GRCm39) S732P probably damaging Het
Add2 G A 6: 86,069,901 (GRCm39) V140I probably benign Het
Ahi1 G A 10: 20,847,974 (GRCm39) G461S probably damaging Het
Aoc1l2 A T 6: 48,909,991 (GRCm39) S643C probably damaging Het
Arhgef7 A G 8: 11,869,659 (GRCm39) T432A possibly damaging Het
Arsi T C 18: 61,050,374 (GRCm39) I419T probably damaging Het
Brca1 G A 11: 101,399,047 (GRCm39) P1515L possibly damaging Het
Brcc3 T A X: 74,493,647 (GRCm39) L222* probably null Het
Brpf3 A T 17: 29,025,010 (GRCm39) T28S probably benign Het
Cdc20b T A 13: 113,215,191 (GRCm39) V253E probably damaging Het
Cnot6l T A 5: 96,227,905 (GRCm39) S443C probably benign Het
Copg1 G A 6: 87,881,908 (GRCm39) A587T probably benign Het
Crebrf A G 17: 26,962,076 (GRCm39) D391G probably benign Het
Crocc A T 4: 140,769,502 (GRCm39) D283E probably damaging Het
Cryga T C 1: 65,142,318 (GRCm39) N25S probably benign Het
Csnk1g1 T C 9: 65,888,230 (GRCm39) F90L possibly damaging Het
Cyp2j6 A G 4: 96,433,965 (GRCm39) V115A probably benign Het
Cyp3a11 T C 5: 145,799,204 (GRCm39) I328V probably benign Het
Dchs1 C A 7: 105,415,134 (GRCm39) E683D probably benign Het
Dnah9 T C 11: 65,809,539 (GRCm39) probably benign Het
Dqx1 T C 6: 83,037,326 (GRCm39) S330P probably damaging Het
Epg5 A G 18: 78,066,580 (GRCm39) Y2160C probably damaging Het
Ercc5 T C 1: 44,213,100 (GRCm39) L742P probably damaging Het
Fcgbpl1 T C 7: 27,839,660 (GRCm39) I491T probably benign Het
Flt1 C T 5: 147,503,204 (GRCm39) probably benign Het
Grip2 A G 6: 91,756,194 (GRCm39) S498P probably damaging Het
H2-T22 A G 17: 36,353,278 (GRCm39) L14P possibly damaging Het
Hephl1 C T 9: 14,988,222 (GRCm39) G629S probably damaging Het
Hsdl2 T A 4: 59,606,523 (GRCm39) M162K unknown Het
Kcnh8 C A 17: 53,284,648 (GRCm39) probably null Het
Krt76 T C 15: 101,799,082 (GRCm39) Q201R probably damaging Het
Lrpprc A T 17: 85,078,322 (GRCm39) Y319N probably benign Het
Lrrk2 T G 15: 91,593,508 (GRCm39) I489R probably damaging Het
Mboat1 G T 13: 30,386,393 (GRCm39) D136Y probably damaging Het
Mcmdc2 T C 1: 10,010,767 (GRCm39) *682Q probably null Het
Msx2 C A 13: 53,622,431 (GRCm39) R193L probably damaging Het
Nfatc4 T G 14: 56,069,111 (GRCm39) D625E possibly damaging Het
Nup153 T C 13: 46,870,657 (GRCm39) E86G probably benign Het
Or2g7 G T 17: 38,378,563 (GRCm39) R167L probably benign Het
Or4k45 T A 2: 111,395,559 (GRCm39) I77F probably benign Het
Pard3b T C 1: 62,205,628 (GRCm39) L474P probably damaging Het
Pate11 T A 9: 36,388,412 (GRCm39) M79K probably benign Het
Pggt1b A T 18: 46,396,039 (GRCm39) probably benign Het
Pik3r2 A G 8: 71,224,688 (GRCm39) probably benign Het
Prr14 A G 7: 127,073,898 (GRCm39) probably benign Het
Rcbtb2 T C 14: 73,415,869 (GRCm39) probably benign Het
Rufy2 G A 10: 62,840,515 (GRCm39) D429N probably benign Het
S1pr5 T A 9: 21,155,503 (GRCm39) T308S probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpina12 A G 12: 104,004,354 (GRCm39) S93P probably benign Het
Serpinb1b T G 13: 33,273,675 (GRCm39) H123Q probably benign Het
Sftpc C T 14: 70,760,120 (GRCm39) V46I probably benign Het
Skint8 T A 4: 111,794,087 (GRCm39) V159D probably damaging Het
Slc25a11 T C 11: 70,536,405 (GRCm39) N134S probably benign Het
Slc25a24 T C 3: 109,064,332 (GRCm39) probably benign Het
Sorl1 C G 9: 41,915,384 (GRCm39) V1282L probably damaging Het
Sptan1 T A 2: 29,916,822 (GRCm39) I2170N probably damaging Het
Syne4 A G 7: 30,014,345 (GRCm39) probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tg C A 15: 66,636,291 (GRCm39) P626Q probably damaging Het
Thoc6 T A 17: 23,888,550 (GRCm39) D196V probably damaging Het
Tril A G 6: 53,794,793 (GRCm39) *810Q probably null Het
Trrap T A 5: 144,776,377 (GRCm39) V2972D possibly damaging Het
Ttn A T 2: 76,591,624 (GRCm39) V12688E probably damaging Het
Ttn T C 2: 76,551,283 (GRCm39) M31370V probably damaging Het
Txndc11 A G 16: 10,909,625 (GRCm39) F307S probably damaging Het
Vmn1r40 C T 6: 89,691,642 (GRCm39) S153L probably benign Het
Vmn2r95 A G 17: 18,672,005 (GRCm39) T581A possibly damaging Het
Wdtc1 A G 4: 133,024,811 (GRCm39) F462S probably damaging Het
Zfp101 A G 17: 33,601,295 (GRCm39) S154P possibly damaging Het
Zmym6 A G 4: 127,002,487 (GRCm39) N481D probably benign Het
Other mutations in Tpi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01931:Tpi1 APN 6 124,789,603 (GRCm39) missense possibly damaging 0.88
IGL02268:Tpi1 APN 6 124,791,087 (GRCm39) missense probably benign 0.22
R1649:Tpi1 UTSW 6 124,789,891 (GRCm39) splice site probably null
R1838:Tpi1 UTSW 6 124,791,115 (GRCm39) missense probably benign 0.01
R3749:Tpi1 UTSW 6 124,789,754 (GRCm39) missense probably damaging 1.00
R4793:Tpi1 UTSW 6 124,789,544 (GRCm39) intron probably benign
R6855:Tpi1 UTSW 6 124,789,426 (GRCm39) missense probably damaging 0.99
R7250:Tpi1 UTSW 6 124,789,441 (GRCm39) missense probably damaging 1.00
R7634:Tpi1 UTSW 6 124,789,817 (GRCm39) nonsense probably null
R8791:Tpi1 UTSW 6 124,789,483 (GRCm39) missense probably damaging 0.98
R9165:Tpi1 UTSW 6 124,788,501 (GRCm39) missense probably benign 0.13
R9175:Tpi1 UTSW 6 124,788,871 (GRCm39) missense probably damaging 0.99
R9242:Tpi1 UTSW 6 124,791,138 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- ACACCAAATGGCTCTTGTCCCC -3'
(R):5'- GCGCGAGGTTCAACATCTCAACTG -3'

Sequencing Primer
(F):5'- CAGGTCCACTCAGACACTG -3'
(R):5'- gggaggtggagaggcag -3'
Posted On 2013-05-23