Incidental Mutation 'R8543:Trmt44'
ID 659464
Institutional Source Beutler Lab
Gene Symbol Trmt44
Ensembl Gene ENSMUSG00000029097
Gene Name tRNA methyltransferase 44
Synonyms 2310079F23Rik
MMRRC Submission 068508-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8543 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 35713547-35732414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35732374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 6 (R6G)
Ref Sequence ENSEMBL: ENSMUSP00000030980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030980]
AlphaFold Q9D2Q2
Predicted Effect probably benign
Transcript: ENSMUST00000030980
AA Change: R6G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: R6G

DomainStartEndE-ValueType
Pfam:AdoMet_MTase 252 363 3.1e-42 PFAM
low complexity region 524 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128195
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (47/49)
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 putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T A 17: 43,624,097 (GRCm39) L839Q probably null Het
Ampd1 T A 3: 102,986,486 (GRCm39) F55Y possibly damaging Het
Ank3 A G 10: 69,838,266 (GRCm39) E891G probably damaging Het
Ankrd13c A G 3: 157,709,712 (GRCm39) probably null Het
Ankrd63 A G 2: 118,533,604 (GRCm39) probably benign Het
Arhgap30 T C 1: 171,232,530 (GRCm39) S392P probably damaging Het
Arhgef11 A T 3: 87,589,181 (GRCm39) K16M probably damaging Het
Birc6 T C 17: 74,872,860 (GRCm39) V373A probably damaging Het
Blm A G 7: 80,143,964 (GRCm39) M822T probably damaging Het
Car15 T C 16: 17,654,713 (GRCm39) N102D probably benign Het
Cdk14 A T 5: 5,430,079 (GRCm39) M16K probably benign Het
Cep350 A G 1: 155,738,122 (GRCm39) Y2574H probably damaging Het
Coro1a C A 7: 126,301,188 (GRCm39) C104F probably damaging Het
D130043K22Rik T A 13: 25,073,852 (GRCm39) L977Q probably benign Het
Dcaf1 T G 9: 106,735,277 (GRCm39) S742A probably benign Het
Dnajb11 A T 16: 22,681,335 (GRCm39) I38L probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fat4 A C 3: 39,031,643 (GRCm39) H2476P probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Gm14326 G A 2: 177,587,452 (GRCm39) R515W probably damaging Het
Gm49368 T C 7: 127,679,433 (GRCm39) Y192H probably damaging Het
Gm7579 GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG 7: 141,765,782 (GRCm39) probably benign Het
Gpr182 T C 10: 127,586,861 (GRCm39) H30R probably benign Het
Gprc5c T A 11: 114,755,094 (GRCm39) V257E probably damaging Het
Iars2 T C 1: 185,019,341 (GRCm39) T982A probably benign Het
Ighg2b C A 12: 113,270,552 (GRCm39) A193S probably damaging Het
Izumo1 T A 7: 45,275,678 (GRCm39) V329E possibly damaging Het
Kcnj6 A T 16: 94,563,250 (GRCm39) V398E possibly damaging Het
Lef1 T A 3: 130,909,138 (GRCm39) N117K possibly damaging Het
Ltbp4 T C 7: 27,024,666 (GRCm39) S655G possibly damaging Het
Magi3 A T 3: 104,126,984 (GRCm39) I100N probably damaging Het
Mettl17 G A 14: 52,126,257 (GRCm39) A222T probably benign Het
Notch4 A G 17: 34,787,394 (GRCm39) E318G probably damaging Het
Nqo2 A T 13: 34,169,297 (GRCm39) probably null Het
Or8k31-ps1 A T 2: 86,356,386 (GRCm39) M45K probably damaging Het
Ptpn18 T C 1: 34,511,229 (GRCm39) S324P probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rin1 A G 19: 5,102,100 (GRCm39) D203G probably damaging Het
Serpinb9c T A 13: 33,340,417 (GRCm39) E128V probably damaging Het
Slc3a1 C A 17: 85,335,925 (GRCm39) N22K probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tmco4 G T 4: 138,781,251 (GRCm39) V472L probably benign Het
Tmem132d T C 5: 128,345,799 (GRCm39) E241G probably benign Het
Trim17 T A 11: 58,862,281 (GRCm39) S438T probably damaging Het
Vcl G T 14: 21,045,127 (GRCm39) L277F probably benign Het
Vmn2r68 C T 7: 84,883,648 (GRCm39) M152I probably benign Het
Vmn2r94 C T 17: 18,463,984 (GRCm39) V769I possibly damaging Het
Vps13d G T 4: 144,743,353 (GRCm39) S3027* probably null Het
Zfp282 A G 6: 47,881,561 (GRCm39) Q416R probably benign Het
Zfp668 A G 7: 127,466,392 (GRCm39) L264P probably damaging Het
Zfp747 A G 7: 126,973,655 (GRCm39) Y172H probably damaging Het
Other mutations in Trmt44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Trmt44 APN 5 35,726,147 (GRCm39) missense possibly damaging 0.61
IGL02139:Trmt44 APN 5 35,726,143 (GRCm39) nonsense probably null
IGL02223:Trmt44 APN 5 35,731,989 (GRCm39) missense probably benign 0.00
IGL02273:Trmt44 APN 5 35,731,457 (GRCm39) missense probably damaging 1.00
IGL02667:Trmt44 APN 5 35,728,396 (GRCm39) missense probably damaging 1.00
IGL03144:Trmt44 APN 5 35,721,766 (GRCm39) missense probably benign 0.27
R0207:Trmt44 UTSW 5 35,730,261 (GRCm39) missense possibly damaging 0.95
R0540:Trmt44 UTSW 5 35,726,103 (GRCm39) critical splice donor site probably null
R0607:Trmt44 UTSW 5 35,726,103 (GRCm39) critical splice donor site probably null
R1681:Trmt44 UTSW 5 35,727,321 (GRCm39) missense probably benign 0.13
R1746:Trmt44 UTSW 5 35,721,403 (GRCm39) missense probably benign 0.00
R2128:Trmt44 UTSW 5 35,732,176 (GRCm39) missense probably benign 0.05
R4190:Trmt44 UTSW 5 35,732,314 (GRCm39) missense possibly damaging 0.60
R4611:Trmt44 UTSW 5 35,732,351 (GRCm39) missense probably benign 0.13
R4684:Trmt44 UTSW 5 35,715,387 (GRCm39) missense probably benign 0.07
R5114:Trmt44 UTSW 5 35,722,812 (GRCm39) missense possibly damaging 0.67
R5951:Trmt44 UTSW 5 35,730,032 (GRCm39) unclassified probably benign
R6125:Trmt44 UTSW 5 35,722,842 (GRCm39) missense probably damaging 1.00
R7131:Trmt44 UTSW 5 35,728,410 (GRCm39) missense probably damaging 1.00
R7239:Trmt44 UTSW 5 35,732,130 (GRCm39) missense probably benign 0.00
R7265:Trmt44 UTSW 5 35,721,647 (GRCm39) missense probably benign 0.13
R7561:Trmt44 UTSW 5 35,715,336 (GRCm39) missense possibly damaging 0.47
R8552:Trmt44 UTSW 5 35,722,744 (GRCm39) missense probably benign 0.04
R8560:Trmt44 UTSW 5 35,715,295 (GRCm39) missense probably benign 0.00
R8850:Trmt44 UTSW 5 35,721,673 (GRCm39) missense probably benign 0.02
R9209:Trmt44 UTSW 5 35,731,422 (GRCm39) critical splice donor site probably null
R9330:Trmt44 UTSW 5 35,727,264 (GRCm39) missense probably damaging 1.00
R9588:Trmt44 UTSW 5 35,727,256 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCATAGCGAGTTCAGGTC -3'
(R):5'- ATTCAGTCGTTGAGGACCCC -3'

Sequencing Primer
(F):5'- ATAGCGAGTTCAGGTCAGCCG -3'
(R):5'- AGGAGGCTGTATCCACTGC -3'
Posted On 2021-01-18