Incidental Mutation 'R9349:Thg1l'
ID 707971
Institutional Source Beutler Lab
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 # R9349 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 45837670-45846321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45846273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 7 (A7V)
Ref Sequence ENSEMBL: ENSMUSP00000011398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000109254]
AlphaFold Q9CY52
Predicted Effect probably benign
Transcript: ENSMUST00000011398
AA Change: A7V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: A7V

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
SMART Domains Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254

DomainStartEndE-ValueType
Pfam:Thg1 2 104 2.1e-37 PFAM
Pfam:Thg1C 105 235 6.5e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A G 8: 12,329,665 (GRCm39) Q40R unknown Het
A730015C16Rik C T 4: 108,705,053 (GRCm39) V89I unknown Het
Adam19 G T 11: 46,022,570 (GRCm39) E508* probably null Het
Arhgef33 C T 17: 80,644,736 (GRCm39) Q22* probably null Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Astn2 T A 4: 66,184,492 (GRCm39) T202S unknown Het
Bpifb5 T A 2: 154,067,005 (GRCm39) L86Q possibly damaging Het
Brpf3 G A 17: 29,040,276 (GRCm39) S899N probably benign Het
Ccl20 T C 1: 83,095,586 (GRCm39) F49S Het
Ctse A G 1: 131,592,111 (GRCm39) T146A probably benign Het
Dhx35 T C 2: 158,671,444 (GRCm39) S292P possibly damaging Het
Fut7 C T 2: 25,314,993 (GRCm39) P84S possibly damaging Het
Gm9736 A C 10: 77,586,393 (GRCm39) S266A unknown Het
Gsdma T A 11: 98,566,771 (GRCm39) L366Q probably benign Het
Ifna15 T A 4: 88,476,283 (GRCm39) D67V probably benign Het
Igkv2-112 G A 6: 68,197,678 (GRCm39) V117I probably benign Het
Kcnh2 C T 5: 24,538,003 (GRCm39) G120E probably damaging Het
Kcnip1 T G 11: 33,601,548 (GRCm39) Y29S probably benign Het
Lrrc37a T G 11: 103,388,454 (GRCm39) M2324L unknown Het
Mettl5 T A 2: 69,702,113 (GRCm39) D185V possibly damaging Het
Mmp1b T A 9: 7,369,271 (GRCm39) M359L probably benign Het
Ndufa5 G A 6: 24,522,749 (GRCm39) T31I probably benign Het
Ngly1 T A 14: 16,281,801 (GRCm38) C352* probably null Het
Or14c45 A G 7: 86,176,373 (GRCm39) H136R probably benign Het
Or51a39 A T 7: 102,362,875 (GRCm39) C248* probably null Het
Pcdhac1 C T 18: 37,224,021 (GRCm39) A278V possibly damaging Het
Ppp2r3c T A 12: 55,345,268 (GRCm39) K73N probably benign Het
Rasgrf1 T C 9: 89,884,460 (GRCm39) V975A probably damaging Het
Rps27rt C T 9: 114,811,673 (GRCm39) V35M probably benign Het
Slc22a8 A G 19: 8,571,469 (GRCm39) N67D probably benign Het
Slc39a6 C A 18: 24,718,493 (GRCm39) M521I probably benign Het
Snx31 C T 15: 36,555,430 (GRCm39) S39N probably damaging Het
Speer1b C T 5: 11,823,221 (GRCm39) T130I possibly damaging Het
Sv2a T C 3: 96,096,795 (GRCm39) probably null Het
Ttc39c C T 18: 12,822,932 (GRCm39) Q147* probably null Het
Ube2u A G 4: 100,407,194 (GRCm39) N352D unknown Het
Uhrf1 T C 17: 56,617,737 (GRCm39) V153A possibly damaging Het
Wdfy4 A G 14: 32,875,996 (GRCm39) S143P 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
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
Predicted Primers PCR Primer
(F):5'- TAACTACGAGAGGCGCACTTC -3'
(R):5'- TTTGCTGCCTACGGGGTAAC -3'

Sequencing Primer
(F):5'- TTCCCGGAAGTGTGGGC -3'
(R):5'- CTGCCTACGGGGTAACAGACAG -3'
Posted On 2022-04-18