Incidental Mutation 'R8308:Tpk1'
ID 641187
Institutional Source Beutler Lab
Gene Symbol Tpk1
Ensembl Gene ENSMUSG00000029735
Gene Name thiamine pyrophosphokinase
Synonyms
MMRRC Submission 067793-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8308 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 43321935-43643212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43642711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 9 (E9G)
Ref Sequence ENSEMBL: ENSMUSP00000065631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067888] [ENSMUST00000114644]
AlphaFold Q9R0M5
PDB Structure Mouse Thiamin Pyrophosphokinase Complexed with Thiamin [X-RAY DIFFRACTION]
Mouse Thiamin Pyrophosphokinase in a Ternary Complex with Pyrithiamin Pyrophosphate and AMP at 2.5 angstrom [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000067888
AA Change: E9G

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000065631
Gene: ENSMUSG00000029735
AA Change: E9G

DomainStartEndE-ValueType
Pfam:TPK_catalytic 30 155 2.4e-44 PFAM
TPK_B1_binding 168 235 5.12e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114644
AA Change: E9G

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110291
Gene: ENSMUSG00000029735
AA Change: E9G

DomainStartEndE-ValueType
TPK_B1_binding 119 186 5.12e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,659,570 (GRCm39) D341G probably damaging Het
Abca17 T C 17: 24,486,657 (GRCm39) T1457A probably damaging Het
Acot8 A T 2: 164,646,663 (GRCm39) S25R probably benign Het
Ap2a2 T C 7: 141,210,212 (GRCm39) V850A probably benign Het
Baiap2l1 T A 5: 144,214,487 (GRCm39) E402D probably benign Het
Bptf T C 11: 106,943,815 (GRCm39) K2689E probably damaging Het
Cdh22 C A 2: 164,954,098 (GRCm39) D808Y probably damaging Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Cipc A G 12: 87,008,809 (GRCm39) T223A probably benign Het
Crem G T 18: 3,295,397 (GRCm39) T57K possibly damaging Het
Cyp17a1 T A 19: 46,656,516 (GRCm39) I393F probably benign Het
Dgcr2 C T 16: 17,676,242 (GRCm39) G176D probably benign Het
Dock3 C A 9: 106,790,371 (GRCm39) V1451L probably benign Het
Dsg2 C T 18: 20,708,121 (GRCm39) P74L probably benign Het
Ece1 T C 4: 137,664,075 (GRCm39) V224A probably damaging Het
Flg A T 3: 93,190,586 (GRCm39) S152C unknown Het
Gcsam A T 16: 45,430,902 (GRCm39) N3I probably damaging Het
Gm10188 C T 1: 132,157,310 (GRCm39) V19I unknown Het
Gpr27 T C 6: 99,670,217 (GRCm39) L193P probably damaging Het
Grin2b A T 6: 135,900,074 (GRCm39) V269E probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Kif14 A G 1: 136,443,651 (GRCm39) I1275V possibly damaging Het
Krt27 T C 11: 99,239,862 (GRCm39) E234G probably benign Het
Lmo7 T C 14: 102,139,807 (GRCm39) probably null Het
Matk T G 10: 81,094,121 (GRCm39) S18A probably benign Het
Mbd3l1 A G 9: 18,395,886 (GRCm39) T4A probably benign Het
Mettl23 G A 11: 116,739,185 (GRCm39) probably null Het
Ncam1 A T 9: 49,479,817 (GRCm39) W54R probably damaging Het
Olfm5 A G 7: 103,803,606 (GRCm39) Y286H probably damaging Het
Or10d5j T A 9: 39,868,265 (GRCm39) M1L probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or4q3 T C 14: 50,582,922 (GRCm39) I326V probably benign Het
Or5ac15 C T 16: 58,939,899 (GRCm39) C178Y probably damaging Het
Pmch A G 10: 87,927,614 (GRCm39) Y105C probably damaging Het
Prg3 A G 2: 84,819,676 (GRCm39) T57A probably benign Het
Ptpn13 A G 5: 103,688,838 (GRCm39) E877G probably damaging Het
Ptprt A G 2: 161,769,566 (GRCm39) V433A probably benign Het
Rufy1 A T 11: 50,297,233 (GRCm39) D406E probably benign Het
Scara5 C T 14: 65,927,234 (GRCm39) R44W probably damaging Het
Scg2 T G 1: 79,414,576 (GRCm39) K49T probably benign Het
Slc40a1 A G 1: 45,950,180 (GRCm39) I424T probably benign Het
Slc4a8 T A 15: 100,693,735 (GRCm39) S479T probably damaging Het
Sorl1 T C 9: 41,929,456 (GRCm39) D1139G probably damaging Het
Srcap A G 7: 127,152,353 (GRCm39) I2206V possibly damaging Het
Ttn C T 2: 76,642,645 (GRCm39) V13297I possibly damaging Het
Uchl3 T C 14: 101,932,655 (GRCm39) probably null Het
Usp12 T C 5: 146,688,751 (GRCm39) D201G probably damaging Het
Vmn1r193 C T 13: 22,403,146 (GRCm39) R282H probably benign Het
Vmn2r104 T C 17: 20,261,040 (GRCm39) D461G possibly damaging Het
Zfp131 A G 13: 120,244,440 (GRCm39) M80T possibly damaging Het
Zfp457 A G 13: 67,441,663 (GRCm39) L304P probably benign Het
Zswim3 A G 2: 164,663,566 (GRCm39) E682G probably damaging Het
Other mutations in Tpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0084:Tpk1 UTSW 6 43,323,763 (GRCm39) missense possibly damaging 0.94
R1736:Tpk1 UTSW 6 43,588,284 (GRCm39) missense probably benign 0.09
R2348:Tpk1 UTSW 6 43,323,778 (GRCm39) missense probably damaging 0.97
R4664:Tpk1 UTSW 6 43,588,269 (GRCm39) missense probably benign 0.08
R4804:Tpk1 UTSW 6 43,570,012 (GRCm39) intron probably benign
R5172:Tpk1 UTSW 6 43,536,951 (GRCm39) splice site probably null
R5230:Tpk1 UTSW 6 43,400,653 (GRCm39) missense probably damaging 1.00
R5485:Tpk1 UTSW 6 43,642,746 (GRCm39) utr 5 prime probably benign
R6126:Tpk1 UTSW 6 43,400,594 (GRCm39) missense probably damaging 1.00
R6140:Tpk1 UTSW 6 43,400,635 (GRCm39) missense probably benign 0.00
R6326:Tpk1 UTSW 6 43,323,736 (GRCm39) missense possibly damaging 0.77
R6460:Tpk1 UTSW 6 43,445,961 (GRCm39) missense probably benign 0.01
R6767:Tpk1 UTSW 6 43,323,727 (GRCm39) missense possibly damaging 0.93
R8061:Tpk1 UTSW 6 43,323,778 (GRCm39) missense probably damaging 0.97
R8120:Tpk1 UTSW 6 43,445,930 (GRCm39) splice site probably null
R9335:Tpk1 UTSW 6 43,446,084 (GRCm39) critical splice acceptor site probably null
R9468:Tpk1 UTSW 6 43,536,901 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GTGTCAAATGTTCCACGGTTGG -3'
(R):5'- AGATTCCAGGTTCTCCAGCC -3'

Sequencing Primer
(F):5'- GTCCTCACAAAAGTTCTACAGGG -3'
(R):5'- AGCCTCTGCCTGGGACTTTC -3'
Posted On 2020-07-28