Incidental Mutation 'R5230:Tpk1'
ID 403709
Institutional Source Beutler Lab
Gene Symbol Tpk1
Ensembl Gene ENSMUSG00000029735
Gene Name thiamine pyrophosphokinase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5230 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 43321935-43643212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43400653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 172 (L172P)
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 damaging
Transcript: ENSMUST00000067888
AA Change: L172P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065631
Gene: ENSMUSG00000029735
AA Change: L172P

DomainStartEndE-ValueType
Pfam:TPK_catalytic 30 155 2.4e-44 PFAM
TPK_B1_binding 168 235 5.12e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114644
AA Change: L123P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110291
Gene: ENSMUSG00000029735
AA Change: L123P

DomainStartEndE-ValueType
TPK_B1_binding 119 186 5.12e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203649
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,651,820 (GRCm39) N1296S probably damaging Het
Abca5 A T 11: 110,210,686 (GRCm39) D164E probably benign Het
Adamts5 T C 16: 85,666,956 (GRCm39) D512G probably damaging Het
Ankrd11 G A 8: 123,617,216 (GRCm39) T2191I probably benign Het
Anxa3 T C 5: 96,986,171 (GRCm39) F270S possibly damaging Het
Bard1 A G 1: 71,092,770 (GRCm39) probably null Het
Ccdc142 T C 6: 83,084,777 (GRCm39) V591A probably damaging Het
Col6a3 C T 1: 90,716,776 (GRCm39) E1613K unknown Het
Dnah9 T A 11: 65,975,492 (GRCm39) H1519L probably damaging Het
Egf T C 3: 129,511,673 (GRCm39) D498G possibly damaging Het
Enah A C 1: 181,763,235 (GRCm39) probably benign Het
Fat3 A T 9: 15,901,856 (GRCm39) N3056K possibly damaging Het
Gm4846 T A 1: 166,317,748 (GRCm39) N223Y probably benign Het
Gm8104 A G 14: 42,958,975 (GRCm39) N55S probably damaging Het
Gpatch8 A G 11: 102,370,404 (GRCm39) S1045P probably damaging Het
Haus4 A G 14: 54,781,251 (GRCm39) M275T probably benign Het
Ighe T A 12: 113,235,006 (GRCm39) T385S unknown Het
Ipo9 G A 1: 135,347,808 (GRCm39) S78L probably damaging Het
Kif21b G A 1: 136,099,411 (GRCm39) V1473M probably damaging Het
Lama1 T A 17: 68,052,078 (GRCm39) Y345* probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Loxl3 A G 6: 83,012,775 (GRCm39) T105A probably benign Het
Map4k3 A G 17: 80,922,599 (GRCm39) S441P probably benign Het
Med12l C T 3: 59,153,209 (GRCm39) T1078I probably damaging Het
Mef2c T A 13: 83,801,026 (GRCm39) M242K possibly damaging Het
Morc2b A G 17: 33,355,226 (GRCm39) Y849H probably benign Het
Mroh2b T A 15: 4,971,004 (GRCm39) V1003E probably benign Het
Myo15a T A 11: 60,393,674 (GRCm39) M1135K possibly damaging Het
Nckap1l A T 15: 103,392,066 (GRCm39) I834F probably benign Het
Nrg1 T A 8: 32,308,507 (GRCm39) Y503F probably damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or4f61 A T 2: 111,922,734 (GRCm39) I104N probably benign Het
Pcdhga2 T C 18: 37,802,795 (GRCm39) V213A probably benign Het
Pdzd2 A T 15: 12,390,119 (GRCm39) M826K probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Rnf38 T C 4: 44,149,176 (GRCm39) Q57R probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpina6 T C 12: 103,618,157 (GRCm39) T219A probably benign Het
Spata31d1c T A 13: 65,183,248 (GRCm39) N263K probably benign Het
Spef2 T G 15: 9,667,316 (GRCm39) I791L possibly damaging Het
Sv2a T C 3: 96,092,776 (GRCm39) C159R probably damaging Het
Tbc1d31 T A 15: 57,824,315 (GRCm39) L859Q probably damaging Het
Tecta C A 9: 42,306,239 (GRCm39) R63L probably damaging Het
Tex52 A G 6: 128,361,779 (GRCm39) E252G probably damaging Het
Tnfsf13b A G 8: 10,081,608 (GRCm39) I257V possibly damaging Het
Trim3 T G 7: 105,268,720 (GRCm39) N78T possibly damaging Het
Try5 A G 6: 41,289,312 (GRCm39) V88A probably benign Het
Vmn1r222 T G 13: 23,417,172 (GRCm39) M14L probably benign Het
Wdr90 A T 17: 26,074,277 (GRCm39) V678E probably benign Het
Zan A G 5: 137,452,340 (GRCm39) L1543P unknown 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
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
R8308:Tpk1 UTSW 6 43,642,711 (GRCm39) missense probably benign 0.14
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'- CCAGAGGCTCATATTTTCACATC -3'
(R):5'- TGTGGCCCTGGACATATTTATCC -3'

Sequencing Primer
(F):5'- TTCACATCATTTCTGCCCAAAAC -3'
(R):5'- CCTGGACATATTTATCCAATTTTTCG -3'
Posted On 2016-07-22