Incidental Mutation 'R0547:Thg1l'
ID 44916
Institutional Source Beutler Lab
Gene Symbol Thg1l
Ensembl Gene ENSMUSG00000011254
Gene Name tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)
Synonyms 5730409G07Rik, 1700121M19Rik
MMRRC Submission 038739-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0547 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 45837670-45846321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45845018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 18 (R18Q)
Ref Sequence ENSEMBL: ENSMUSP00000104877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000109254]
AlphaFold Q9CY52
Predicted Effect probably damaging
Transcript: ENSMUST00000011398
AA Change: R78Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: R78Q

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Thg1 35 164 1e-53 PFAM
Pfam:Thg1C 167 283 2.6e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109254
AA Change: R18Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254
AA Change: R18Q

DomainStartEndE-ValueType
Pfam:Thg1 2 104 2.1e-37 PFAM
Pfam:Thg1C 105 235 6.5e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133851
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,570,498 (GRCm39) Y181H probably benign Het
A530084C06Rik A G 13: 31,742,813 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,274,592 (GRCm39) D1208G probably benign Het
Ankrd55 T C 13: 112,504,757 (GRCm39) F501S probably benign Het
Aox1 G A 1: 58,349,201 (GRCm39) D656N probably damaging Het
Atr A T 9: 95,781,218 (GRCm39) probably benign Het
Bicra G A 7: 15,706,173 (GRCm39) R1423W probably damaging Het
Cabyr T A 18: 12,884,073 (GRCm39) S187T probably benign Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Cdon A T 9: 35,368,794 (GRCm39) T343S possibly damaging Het
Cep350 C T 1: 155,777,181 (GRCm39) probably null Het
Cimap1a A G 7: 140,428,728 (GRCm39) probably null Het
Copa T C 1: 171,949,254 (GRCm39) probably benign Het
Cyp4f18 T C 8: 72,749,854 (GRCm39) D265G probably benign Het
Dgkb T A 12: 38,654,157 (GRCm39) C759S probably benign Het
Dnah6 T C 6: 73,021,757 (GRCm39) M3470V probably benign Het
Eif4g2 T C 7: 110,677,500 (GRCm39) N177S probably damaging Het
Etfb C T 7: 43,104,002 (GRCm39) Q145* probably null Het
Flnb T A 14: 7,912,943 (GRCm38) probably null Het
G430095P16Rik G A 8: 85,453,271 (GRCm39) probably benign Het
Gfral A T 9: 76,115,924 (GRCm39) S17T probably benign Het
Gpr26 T C 7: 131,586,026 (GRCm39) I332T probably benign Het
Greb1 T A 12: 16,773,412 (GRCm39) T221S probably benign Het
Haus5 A T 7: 30,358,508 (GRCm39) S289T probably damaging Het
Ighv6-4 T C 12: 114,370,221 (GRCm39) Y77C probably damaging Het
Il23r A T 6: 67,400,685 (GRCm39) D548E probably benign Het
Il23r A T 6: 67,463,235 (GRCm39) F86Y possibly damaging Het
Inppl1 A T 7: 101,480,210 (GRCm39) M424K probably benign Het
Jam3 A G 9: 27,010,184 (GRCm39) Y267H probably damaging Het
Lrrc37 T C 11: 103,510,990 (GRCm39) N326S unknown Het
Mms19 A T 19: 41,951,857 (GRCm39) M160K probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Mup5 A G 4: 61,751,237 (GRCm39) L137P probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Ntrk2 G A 13: 59,022,184 (GRCm39) S413N probably damaging Het
Nuak2 C A 1: 132,259,941 (GRCm39) T573N probably benign Het
Or4m1 A T 14: 50,557,575 (GRCm39) I239K probably benign Het
Or52h9 G A 7: 104,202,563 (GRCm39) V146M probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pclo T A 5: 14,842,086 (GRCm39) I4787N unknown Het
Pde8a G T 7: 80,973,878 (GRCm39) V612L probably benign Het
Pear1 A T 3: 87,696,107 (GRCm39) probably null Het
Pgbd1 A G 13: 21,607,688 (GRCm39) Y169H probably damaging Het
Pkd1l1 A G 11: 8,786,448 (GRCm39) probably benign Het
Prkag3 C T 1: 74,783,879 (GRCm39) probably null Het
Rsph9 A T 17: 46,455,050 (GRCm39) S9T possibly damaging Het
Rxfp1 A T 3: 79,612,876 (GRCm39) probably null Het
Senp7 A G 16: 55,996,189 (GRCm39) E756G probably damaging Het
Serpina1e G T 12: 103,915,450 (GRCm39) T252K probably benign Het
Sipa1l1 T A 12: 82,484,510 (GRCm39) S1555T probably benign Het
Slain1 T C 14: 103,932,711 (GRCm39) S432P probably damaging Het
Slc37a2 A T 9: 37,144,418 (GRCm39) probably null Het
Tnn A G 1: 159,943,907 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Tshz3 A G 7: 36,470,842 (GRCm39) T944A probably damaging Het
Ttn C G 2: 76,684,774 (GRCm39) probably benign Het
Ythdc2 T C 18: 44,973,331 (GRCm39) S323P possibly damaging Het
Zfp827 A G 8: 79,786,939 (GRCm39) N35S probably damaging Het
Other mutations in Thg1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Thg1l APN 11 45,845,048 (GRCm39) missense probably benign 0.02
IGL01111:Thg1l APN 11 45,839,051 (GRCm39) missense probably damaging 0.98
IGL01899:Thg1l APN 11 45,845,018 (GRCm39) missense probably damaging 0.96
IGL02097:Thg1l APN 11 45,841,055 (GRCm39) missense probably benign 0.09
IGL02746:Thg1l APN 11 45,839,054 (GRCm39) nonsense probably null
R1099:Thg1l UTSW 11 45,844,988 (GRCm39) missense possibly damaging 0.76
R1998:Thg1l UTSW 11 45,841,030 (GRCm39) missense possibly damaging 0.95
R2568:Thg1l UTSW 11 45,842,392 (GRCm39) missense probably benign
R4738:Thg1l UTSW 11 45,845,018 (GRCm39) missense probably damaging 1.00
R5614:Thg1l UTSW 11 45,841,054 (GRCm39) missense possibly damaging 0.65
R6191:Thg1l UTSW 11 45,844,988 (GRCm39) missense probably benign 0.03
R7703:Thg1l UTSW 11 45,846,120 (GRCm39) missense probably damaging 1.00
R8218:Thg1l UTSW 11 45,846,277 (GRCm39) missense probably benign
R9347:Thg1l UTSW 11 45,845,288 (GRCm39) start gained probably benign
R9349:Thg1l UTSW 11 45,846,273 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCAGCATCACCCACAACTTTGAG -3'
(R):5'- TCACAGAAAAGTGGATTGAAGCCTAGC -3'

Sequencing Primer
(F):5'- CACAACTTTGAGGATCTCAGC -3'
(R):5'- gctgtcctccttgtttttcttg -3'
Posted On 2013-06-11