|Institutional Source||Beutler Lab|
|Gene Name||tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7703 (G1)|
|Chromosomal Location||45946843-45955494 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 45955293 bp|
|Amino Acid Change||Aspartic acid to Alanine at position 58 (D58A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000011398 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000109254]|
|Predicted Effect||probably damaging
AA Change: D58A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D58A
|Predicted Effect||probably benign
|Coding Region Coverage||
|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||
|Other mutations in Thg1l||
(F):5'- AAGTTCTTGCAAACTGGTTTCAGC -3'
(R):5'- ATGGCGAATGTGGGCTTTCC -3'
(F):5'- AAGTAGCACGGGTTTTTCACC -3'
(R):5'- GGCCAAGAGCAAGTTTGA -3'