Incidental Mutation 'R0084:Tpk1'
ID 19803
Institutional Source Beutler Lab
Gene Symbol Tpk1
Ensembl Gene ENSMUSG00000029735
Gene Name thiamine pyrophosphokinase
Synonyms
MMRRC Submission 038371-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0084 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43321935-43643212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43323763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 229 (V229L)
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 possibly damaging
Transcript: ENSMUST00000067888
AA Change: V229L

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065631
Gene: ENSMUSG00000029735
AA Change: V229L

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: V180L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110291
Gene: ENSMUSG00000029735
AA Change: V180L

DomainStartEndE-ValueType
TPK_B1_binding 119 186 5.12e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203649
Meta Mutation Damage Score 0.6028 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.5%
  • 20x: 86.0%
Validation Efficiency 99% (77/78)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,927,423 (GRCm39) probably benign Het
Abcc9 A G 6: 142,604,277 (GRCm39) Y653H probably damaging Het
Acp3 A T 9: 104,191,564 (GRCm39) S241T probably benign Het
Acvr1 A G 2: 58,348,895 (GRCm39) probably null Het
Adgb T C 10: 10,272,088 (GRCm39) N832S possibly damaging Het
AI182371 A G 2: 34,975,714 (GRCm39) probably null Het
Anapc1 G A 2: 128,465,886 (GRCm39) probably benign Het
Apba1 T C 19: 23,889,861 (GRCm39) S420P possibly damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bpifb2 A T 2: 153,733,011 (GRCm39) M365L probably benign Het
Btnl9 A T 11: 49,069,606 (GRCm39) N224K possibly damaging Het
Cntn1 A T 15: 92,215,798 (GRCm39) I944L probably benign Het
Cpa3 T C 3: 20,296,265 (GRCm39) probably benign Het
Dcaf11 C T 14: 55,806,700 (GRCm39) R468C probably benign Het
E4f1 T C 17: 24,663,056 (GRCm39) T750A possibly damaging Het
Ercc5 A G 1: 44,215,136 (GRCm39) K890E possibly damaging Het
Fbrsl1 A G 5: 110,527,381 (GRCm39) L262P probably damaging Het
Flnb A G 14: 7,935,979 (GRCm38) D2273G probably benign Het
Gm9848 A T 13: 113,244,776 (GRCm39) noncoding transcript Het
Hcrtr1 T A 4: 130,031,059 (GRCm39) H75L possibly damaging Het
Heatr9 A T 11: 83,403,721 (GRCm39) probably benign Het
Htatip2 G A 7: 49,409,420 (GRCm39) G58D probably damaging Het
Jkampl A T 6: 73,445,918 (GRCm39) Y210* probably null Het
Lmntd1 G A 6: 145,350,254 (GRCm39) H234Y unknown Het
Ly6g2 T A 15: 75,089,624 (GRCm39) M44K probably benign Het
Map4k3 T C 17: 80,963,343 (GRCm39) K85E possibly damaging Het
Moxd2 T C 6: 40,856,342 (GRCm39) D510G probably null Het
Mpv17l2 A T 8: 71,217,190 (GRCm39) probably benign Het
Nbeal2 A G 9: 110,472,778 (GRCm39) probably null Het
Ncapd3 A G 9: 26,967,407 (GRCm39) D581G probably damaging Het
Ndufb5 T C 3: 32,791,352 (GRCm39) V33A probably benign Het
Or10a49 A T 7: 108,468,007 (GRCm39) M118K probably damaging Het
Osbpl1a T C 18: 12,890,669 (GRCm39) T524A probably benign Het
Otogl A C 10: 107,737,202 (GRCm39) S71A probably damaging Het
Ovol2 G T 2: 144,147,808 (GRCm39) N180K probably damaging Het
Pam A G 1: 97,823,774 (GRCm39) V219A probably benign Het
Paox C T 7: 139,712,359 (GRCm39) R197* probably null Het
Pax2 T A 19: 44,806,874 (GRCm39) Y290N probably damaging Het
Pik3ca T C 3: 32,516,937 (GRCm39) M933T possibly damaging Het
Ppfia4 G T 1: 134,227,164 (GRCm39) R1124S possibly damaging Het
Prkch T C 12: 73,744,761 (GRCm39) F258S possibly damaging Het
Rhob G A 12: 8,549,107 (GRCm39) R176C probably benign Het
Sbf2 A T 7: 110,041,573 (GRCm39) I326N possibly damaging Het
Scgb2b2 A T 7: 31,003,041 (GRCm39) E45D probably benign Het
Scube3 T A 17: 28,381,935 (GRCm39) D320E probably benign Het
Serpina1f A G 12: 103,659,847 (GRCm39) V145A possibly damaging Het
Slc28a2b A G 2: 122,353,314 (GRCm39) Y498C possibly damaging Het
Slc6a5 A C 7: 49,579,761 (GRCm39) I380L probably benign Het
Spag16 A G 1: 70,035,998 (GRCm39) N342S probably benign Het
Spata16 A G 3: 26,721,559 (GRCm39) T27A possibly damaging Het
Spock3 A C 8: 63,596,963 (GRCm39) K89T probably damaging Het
Tbc1d1 T C 5: 64,481,797 (GRCm39) V795A probably damaging Het
Tirap G T 9: 35,100,458 (GRCm39) H75Q probably benign Het
Tshz2 A G 2: 169,726,286 (GRCm39) H294R probably damaging Het
Ttn A T 2: 76,703,043 (GRCm39) probably benign Het
Unc13d C T 11: 115,954,657 (GRCm39) V984M probably damaging Het
Zbtb43 A T 2: 33,343,996 (GRCm39) Y373N probably damaging Het
Zfp646 T A 7: 127,480,476 (GRCm39) H884Q possibly damaging Het
Other mutations in Tpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- CACCTTGAAAGCTCATGGTTCCCC -3'
(R):5'- GCCCCAAACGGTAAGTGATAGTGTC -3'

Sequencing Primer
(F):5'- CATGGAGAAGTTTACATTTCTGCAC -3'
(R):5'- GAAGTTCTTGCTTTGAGAACCC -3'
Posted On 2013-04-11