Incidental Mutation 'IGL02097:Thg1l'
ID 279622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thg1l
Ensembl Gene ENSMUSG00000011254
Gene Name tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)
Synonyms 5730409G07Rik, 1700121M19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02097
Quality Score
Chromosome 11
Chromosomal Location 45837670-45846321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45841055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 175 (Y175H)
Ref Sequence ENSEMBL: ENSMUSP00000104877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000109254]
AlphaFold Q9CY52
Predicted Effect probably benign
Transcript: ENSMUST00000011398
AA Change: Y235H

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: Y235H

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: Y175H

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254
AA Change: Y175H

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
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
Abcg3 A T 5: 105,109,052 (GRCm39) V415D possibly damaging Het
Adcy3 C T 12: 4,262,118 (GRCm39) A1056V probably damaging Het
Adcy5 G A 16: 35,092,468 (GRCm39) A610T probably damaging Het
Arhgap21 G A 2: 20,884,813 (GRCm39) T788I probably benign Het
Asic1 T C 15: 99,592,567 (GRCm39) probably benign Het
Cdhr4 T A 9: 107,870,199 (GRCm39) M68K probably benign Het
Cdhr5 G T 7: 140,849,894 (GRCm39) T637K probably damaging Het
Corin A T 5: 72,529,489 (GRCm39) C289S probably damaging Het
Cpne4 T C 9: 104,563,701 (GRCm39) V26A probably damaging Het
Csmd1 T C 8: 16,261,773 (GRCm39) D908G probably null Het
Cyp2c29 A G 19: 39,296,064 (GRCm39) D126G probably damaging Het
Ddx42 G A 11: 106,129,986 (GRCm39) S426N probably benign Het
Dnah1 C T 14: 31,026,958 (GRCm39) V689M possibly damaging Het
Dtwd1 A G 2: 126,006,715 (GRCm39) T246A probably damaging Het
Fbn1 A T 2: 125,205,889 (GRCm39) M1036K probably damaging Het
Fbxo10 T C 4: 45,048,527 (GRCm39) N536S probably benign Het
Gnal G A 18: 67,350,279 (GRCm39) probably benign Het
Gns A G 10: 121,226,598 (GRCm39) T416A probably benign Het
Heatr5b G A 17: 79,124,943 (GRCm39) T603I probably damaging Het
Hsp90b1 T A 10: 86,527,548 (GRCm39) probably benign Het
Krt23 C T 11: 99,383,836 (GRCm39) G19R probably benign Het
Lama2 C T 10: 27,014,956 (GRCm39) R1584H probably benign Het
Lmbr1l C T 15: 98,815,772 (GRCm39) V11M probably damaging Het
Man1a2 T C 3: 100,489,447 (GRCm39) K511E possibly damaging Het
Mrgpra3 C A 7: 47,239,204 (GRCm39) V241F possibly damaging Het
Myh3 A G 11: 66,973,750 (GRCm39) D141G probably benign Het
Mylk2 G A 2: 152,757,056 (GRCm39) C277Y probably damaging Het
Myo3b A T 2: 70,069,173 (GRCm39) T471S probably damaging Het
Naip1 A G 13: 100,562,096 (GRCm39) V1023A probably benign Het
Olfm5 T A 7: 103,803,438 (GRCm39) T342S probably benign Het
Or10g1 A G 14: 52,647,511 (GRCm39) F273L probably benign Het
Or2f1b T A 6: 42,739,394 (GRCm39) M136K probably damaging Het
Pglyrp4 T C 3: 90,642,910 (GRCm39) F263L probably benign Het
Plekhh2 A T 17: 84,906,608 (GRCm39) T1148S possibly damaging Het
Prrc2b T C 2: 32,081,513 (GRCm39) probably benign Het
Rbm28 G T 6: 29,138,617 (GRCm39) D398E possibly damaging Het
Rnf220 A G 4: 117,130,524 (GRCm39) F234L probably benign Het
Sele T C 1: 163,880,662 (GRCm39) S415P probably benign Het
Shpk T C 11: 73,094,821 (GRCm39) L79P probably damaging Het
Slc35f4 C T 14: 49,543,703 (GRCm39) A148T probably damaging Het
Slc6a20a G A 9: 123,489,684 (GRCm39) P120S possibly damaging Het
Slc8a2 A G 7: 15,891,081 (GRCm39) E701G possibly damaging Het
Slco1a1 T A 6: 141,885,765 (GRCm39) I87F possibly damaging Het
Srebf1 T G 11: 60,093,650 (GRCm39) D739A probably damaging Het
Traf3ip2 G A 10: 39,530,475 (GRCm39) V540M probably damaging Het
Wdr48 A G 9: 119,753,329 (GRCm39) D644G probably damaging Het
Zbtb1 A T 12: 76,433,371 (GRCm39) K452N probably damaging Het
Zfhx2 C T 14: 55,300,351 (GRCm39) G2467R probably damaging Het
Zfp334 A T 2: 165,223,643 (GRCm39) Y133* probably null 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
IGL02746:Thg1l APN 11 45,839,054 (GRCm39) nonsense probably null
R0547:Thg1l UTSW 11 45,845,018 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16