Incidental Mutation 'IGL00490:Thg1l'
ID6063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thg1l
Ensembl Gene ENSMUSG00000011254
Gene NametRNA-histidine guanylyltransferase 1-like (S. cerevisiae)
Synonyms5730409G07Rik, 1700121M19Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00490
Quality Score
Status
Chromosome11
Chromosomal Location45946843-45955494 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45954221 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 8 (E8G)
Ref Sequence ENSEMBL: ENSMUSP00000104877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000109254]
Predicted Effect probably benign
Transcript: ENSMUST00000011398
AA Change: E68G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: E68G

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: E8G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254
AA Change: E8G

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 A G 4: 130,011,872 E837G possibly damaging Het
Atp13a3 A G 16: 30,352,354 M291T probably benign Het
Coq8b C A 7: 27,257,477 H518Q probably benign Het
Crebrf A G 17: 26,743,093 D388G probably damaging Het
Cyp2d10 A T 15: 82,403,314 S244T possibly damaging Het
Ddr2 A T 1: 170,005,194 L99H probably damaging Het
Dennd1a G T 2: 37,801,152 D251E probably damaging Het
Fam210a G T 18: 68,268,912 T210N probably damaging Het
Gigyf2 C A 1: 87,436,850 Q951K probably damaging Het
Gramd1b T A 9: 40,310,041 I280F probably damaging Het
Gsdmc3 T A 15: 63,859,677 K335N probably benign Het
Loxhd1 A T 18: 77,431,074 T993S possibly damaging Het
Mfsd6 A G 1: 52,708,254 L484P probably damaging Het
Myt1l T A 12: 29,827,424 V358E unknown Het
Mzt1 A G 14: 99,040,670 probably benign Het
Nrxn2 C A 19: 6,473,593 H514Q possibly damaging Het
Nup214 G A 2: 32,033,979 E2K probably damaging Het
Pcdhb4 G T 18: 37,309,916 G760W possibly damaging Het
Ptger2 T C 14: 45,001,741 probably benign Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Smcr8 T A 11: 60,778,632 probably null Het
Spef2 A T 15: 9,740,535 D46E probably damaging Het
Tbc1d32 G A 10: 56,155,765 P689L probably damaging Het
Tep1 C A 14: 50,833,473 W2123L probably damaging Het
Tmem236 A G 2: 14,219,378 Y326C probably damaging Het
Trip4 C T 9: 65,833,410 G573R probably damaging Het
Trrap C T 5: 144,825,225 T2320I probably benign Het
Tsnaxip1 A G 8: 105,842,184 N435S probably damaging Het
Ube3a A G 7: 59,272,110 N77D probably damaging Het
Uvrag A T 7: 98,979,741 I373N probably damaging Het
Other mutations in Thg1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Thg1l APN 11 45948224 missense probably damaging 0.98
IGL01899:Thg1l APN 11 45954191 missense probably damaging 0.96
IGL02097:Thg1l APN 11 45950228 missense probably benign 0.09
IGL02746:Thg1l APN 11 45948227 nonsense probably null
R0547:Thg1l UTSW 11 45954191 missense probably damaging 1.00
R1099:Thg1l UTSW 11 45954161 missense possibly damaging 0.76
R1998:Thg1l UTSW 11 45950203 missense possibly damaging 0.95
R2568:Thg1l UTSW 11 45951565 missense probably benign
R4738:Thg1l UTSW 11 45954191 missense probably damaging 1.00
R5614:Thg1l UTSW 11 45950227 missense possibly damaging 0.65
R6191:Thg1l UTSW 11 45954161 missense probably benign 0.03
Posted On2012-04-20