Incidental Mutation 'R9588:Trmt44'
ID 722877
Institutional Source Beutler Lab
Gene Symbol Trmt44
Ensembl Gene ENSMUSG00000029097
Gene Name tRNA methyltransferase 44
Synonyms 2310079F23Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R9588 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 35713547-35732414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35727256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 320 (C320S)
Ref Sequence ENSEMBL: ENSMUSP00000030980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030980]
AlphaFold Q9D2Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000030980
AA Change: C320S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: C320S

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 T C 2: 158,468,328 (GRCm39) F153L possibly damaging Het
Ano3 T C 2: 110,528,342 (GRCm39) K491E possibly damaging Het
Arhgap21 C A 2: 20,858,938 (GRCm39) C1252F possibly damaging Het
Bcat1 T C 6: 144,950,126 (GRCm39) N424S probably benign Het
Ccdc61 A G 7: 18,644,266 (GRCm39) probably benign Het
Cecr2 T C 6: 120,733,770 (GRCm39) S586P possibly damaging Het
Chd3 A G 11: 69,241,046 (GRCm39) C1516R probably damaging Het
Cops5 C A 1: 10,108,222 (GRCm39) R5L unknown Het
Cpne2 C A 8: 95,286,781 (GRCm39) P369Q possibly damaging Het
Cyp3a25 G T 5: 145,921,699 (GRCm39) Q412K probably benign Het
Dbn1 A G 13: 55,622,785 (GRCm39) V612A probably benign Het
Dnah17 T C 11: 118,012,783 (GRCm39) D426G probably benign Het
Dolpp1 T A 2: 30,282,515 (GRCm39) Y23N probably damaging Het
Egf T C 3: 129,511,617 (GRCm39) M517V probably benign Het
Fbxw27 ATGT AT 9: 109,602,322 (GRCm39) probably null Het
Foxc1 A T 13: 31,992,587 (GRCm39) H466L unknown Het
Hsf2bp A G 17: 32,241,810 (GRCm39) L78P probably damaging Het
Ikbkb G A 8: 23,151,410 (GRCm39) A738V unknown Het
Itgb8 G T 12: 119,140,754 (GRCm39) N374K probably benign Het
Kif16b T A 2: 142,553,804 (GRCm39) Q998L possibly damaging Het
Krtap11-1 A C 16: 89,368,062 (GRCm39) probably benign Het
Lamp3 T A 16: 19,494,832 (GRCm39) probably null Het
Lrrc43 A T 5: 123,641,307 (GRCm39) H497L probably damaging Het
Mmp1a C T 9: 7,467,225 (GRCm39) T267I probably benign Het
Mroh2b T A 15: 4,978,130 (GRCm39) D1299E probably benign Het
Ndst4 A C 3: 125,476,808 (GRCm39) H11P probably damaging Het
Oas1c A G 5: 120,946,202 (GRCm39) F99L probably benign Het
Or10s1 T C 9: 39,986,353 (GRCm39) L254P probably damaging Het
Or14c39 T A 7: 86,343,948 (GRCm39) C95S probably damaging Het
Or1j11 G T 2: 36,311,784 (GRCm39) A125S probably damaging Het
Or5w15 G A 2: 87,568,644 (GRCm39) T8I probably benign Het
Pcdhga3 A G 18: 37,808,564 (GRCm39) D339G probably damaging Het
Pcsk1 A T 13: 75,259,039 (GRCm39) N271I probably damaging Het
Pdilt A T 7: 119,100,870 (GRCm39) D160E probably benign Het
Psma4 A T 9: 54,862,245 (GRCm39) Q123L probably damaging Het
Selenbp2 A T 3: 94,605,368 (GRCm39) I127F possibly damaging Het
Setd5 A G 6: 113,121,025 (GRCm39) N1078S probably damaging Het
Sorl1 A C 9: 41,993,105 (GRCm39) Y306* probably null Het
Spata17 T C 1: 186,849,471 (GRCm39) K255E possibly damaging Het
Surf4 C A 2: 26,823,622 (GRCm39) probably benign Het
Tbc1d16 G T 11: 119,101,335 (GRCm39) H58Q probably damaging Het
Tfdp2 A G 9: 96,169,663 (GRCm39) T5A probably damaging Het
Thsd7b T G 1: 130,108,223 (GRCm39) C1313G probably damaging Het
Unc119b G A 5: 115,272,827 (GRCm39) T48M probably benign Het
Vit T A 17: 78,930,079 (GRCm39) I348N probably damaging Het
Vmn1r184 T A 7: 25,966,347 (GRCm39) M31K probably null Het
Vmn2r81 A G 10: 79,129,205 (GRCm39) T699A possibly damaging Het
Xrn1 A G 9: 95,920,756 (GRCm39) T1339A probably benign Het
Zfp827 T A 8: 79,905,604 (GRCm39) H860Q 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
R8543:Trmt44 UTSW 5 35,732,374 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- CTGGGTATAGCTGAATACAGTGG -3'
(R):5'- GGAAGAAGTTACTCCACCCC -3'

Sequencing Primer
(F):5'- TGGGCTAACCTGGACTATATAGC -3'
(R):5'- ACATGCTAGGCAAGTGCTCTG -3'
Posted On 2022-08-09