Incidental Mutation 'R1099:Thg1l'
ID 97941
Institutional Source Beutler Lab
Gene Symbol Thg1l
Ensembl Gene ENSMUSG00000011254
Gene Name tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)
Synonyms 5730409G07Rik, 1700121M19Rik
MMRRC Submission 039173-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1099 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 45837670-45846321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45844988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 88 (Q88L)
Ref Sequence ENSEMBL: ENSMUSP00000011398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000109254]
AlphaFold Q9CY52
Predicted Effect possibly damaging
Transcript: ENSMUST00000011398
AA Change: Q88L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: Q88L

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 benign
Transcript: ENSMUST00000109254
AA Change: Q28L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254
AA Change: Q28L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.1%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abca7 G T 10: 79,849,577 (GRCm39) E1921* probably null Het
Acnat2 G A 4: 49,380,484 (GRCm39) T298I probably benign Het
Agbl4 T C 4: 110,812,860 (GRCm39) probably null Het
Angpt2 T A 8: 18,749,149 (GRCm39) T323S probably damaging Het
Ano2 A G 6: 125,784,810 (GRCm39) K299R probably damaging Het
Armc2 G T 10: 41,793,183 (GRCm39) Q814K probably benign Het
Atp9b A C 18: 80,901,841 (GRCm39) I263S probably damaging Het
Cadps2 A G 6: 23,599,478 (GRCm39) I276T probably damaging Het
Casp12 T A 9: 5,352,204 (GRCm39) H135Q probably benign Het
Ccdc180 A G 4: 45,914,225 (GRCm39) I621V probably benign Het
Cd160 G A 3: 96,713,156 (GRCm39) A36V probably damaging Het
Ctcfl A T 2: 172,954,153 (GRCm39) C315S probably damaging Het
Egflam A G 15: 7,281,903 (GRCm39) V411A probably benign Het
Ezh1 T C 11: 101,084,634 (GRCm39) probably null Het
Fam171a1 T A 2: 3,226,354 (GRCm39) S371T probably benign Het
Hspbap1 T G 16: 35,645,314 (GRCm39) F333C probably damaging Het
Ky G C 9: 102,414,923 (GRCm39) W278C probably damaging Het
Lrig3 T A 10: 125,842,883 (GRCm39) probably null Het
Map3k6 A T 4: 132,974,439 (GRCm39) S580C probably damaging Het
Mark2 T C 19: 7,254,790 (GRCm39) T219A probably benign Het
Mbd5 A G 2: 49,148,156 (GRCm39) I789V probably benign Het
Myo18a T A 11: 77,709,727 (GRCm39) probably null Het
Nos1 A G 5: 118,061,460 (GRCm39) T929A probably damaging Het
Or2a20 T C 6: 43,194,558 (GRCm39) F237S probably damaging Het
Or2z9 T A 8: 72,854,503 (GRCm39) S300T probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Palmd T C 3: 116,716,874 (GRCm39) N541S possibly damaging Het
Pdzd2 A G 15: 12,373,173 (GRCm39) S2321P probably damaging Het
Prdm8 T G 5: 98,331,361 (GRCm39) I71S probably damaging Het
Prkg1 A C 19: 30,549,012 (GRCm39) S654R probably benign Het
Psmf1 A T 2: 151,560,590 (GRCm39) H260Q probably damaging Het
Rp1 A T 1: 4,422,513 (GRCm39) I179N possibly damaging Het
Rreb1 A G 13: 38,132,867 (GRCm39) K1681E probably benign Het
Rtn1 A T 12: 72,351,241 (GRCm39) probably null Het
Scaf4 T A 16: 90,059,986 (GRCm39) I37F unknown Het
Sema4c A G 1: 36,591,191 (GRCm39) S383P probably damaging Het
Shc4 G T 2: 125,564,764 (GRCm39) D178E probably benign Het
Slc2a5 A G 4: 150,226,636 (GRCm39) N366S probably benign Het
Slc6a3 A G 13: 73,715,760 (GRCm39) N465S probably benign Het
Tbc1d9b C A 11: 50,037,135 (GRCm39) D261E probably benign Het
Tdrd3 A T 14: 87,724,675 (GRCm39) T359S probably damaging Het
Thap3 T C 4: 152,067,788 (GRCm39) M97V probably benign Het
Tjp3 T C 10: 81,109,657 (GRCm39) T849A probably benign Het
Tomm70a G T 16: 56,963,180 (GRCm39) D400Y probably damaging Het
Trak2 T C 1: 58,961,000 (GRCm39) I177V probably benign Het
Trim66 T C 7: 109,074,661 (GRCm39) I533M probably benign Het
Ush2a T A 1: 188,380,545 (GRCm39) Y2285N probably benign Het
Ush2a C T 1: 188,596,836 (GRCm39) P3859S 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
R0547:Thg1l UTSW 11 45,845,018 (GRCm39) missense probably damaging 1.00
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'- CACCCACAACTTTGAGGATCTCAGC -3'
(R):5'- TCACAGAAAAGTGGATTGAAGCCTAGC -3'

Sequencing Primer
(F):5'- AGCTGTCGCCATGAGAAAC -3'
(R):5'- gctgtcctccttgtttttcttg -3'
Posted On 2014-01-05