Incidental Mutation 'IGL02139:Trmt44'
ID 281468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt44
Ensembl Gene ENSMUSG00000029097
Gene Name tRNA methyltransferase 44
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL02139
Quality Score
Status
Chromosome 5
Chromosomal Location 35556203-35575070 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 35568799 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 345 (K345*)
Ref Sequence ENSEMBL: ENSMUSP00000030980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030980]
AlphaFold Q9D2Q2
Predicted Effect probably null
Transcript: ENSMUST00000030980
AA Change: K345*
SMART Domains Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: K345*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145930
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik G A 4: 124,610,576 T61M unknown Het
Ambn T C 5: 88,465,290 F217L probably benign Het
Cast T C 13: 74,728,365 D121G possibly damaging Het
Clmn T C 12: 104,781,099 I730V probably benign Het
Cryzl1 T C 16: 91,712,251 K54R possibly damaging Het
Cyp3a16 A G 5: 145,455,480 S222P probably benign Het
Dcstamp T C 15: 39,754,458 S88P probably damaging Het
F5 A G 1: 164,192,674 D906G possibly damaging Het
Fam193a A G 5: 34,444,737 T428A probably benign Het
Fbxw16 T G 9: 109,436,686 D355A probably benign Het
Focad T C 4: 88,129,054 probably null Het
Ftsj3 G A 11: 106,254,663 P82S possibly damaging Het
Gm5346 T A 8: 43,625,578 R536S probably benign Het
Grwd1 A T 7: 45,827,243 H307Q probably damaging Het
Hip1r T C 5: 123,996,244 F289S probably damaging Het
Igkc C T 6: 70,726,575 R47* probably null Het
Lcn3 T C 2: 25,766,634 F100S possibly damaging Het
Lmnb1 T C 18: 56,749,799 F572S probably benign Het
Mrps17 T A 5: 129,716,796 I18N probably damaging Het
Myo9a G A 9: 59,779,992 V127I probably benign Het
Olfr1000 T A 2: 85,608,230 K227* probably null Het
Olfr1260 T C 2: 89,978,429 V217A possibly damaging Het
Olfr168 T C 16: 19,530,890 D10G probably benign Het
Pcdhb21 A G 18: 37,515,246 D476G probably damaging Het
Pkd2l2 T A 18: 34,412,715 Y56* probably null Het
Pld1 C A 3: 28,120,812 D86E probably damaging Het
Plpp1 A G 13: 112,856,899 T122A probably benign Het
Prkag3 A G 1: 74,740,724 I484T probably benign Het
Prl7d1 T A 13: 27,712,083 I104F probably damaging Het
Prr14l A G 5: 32,827,532 S1540P probably damaging Het
Pyroxd1 T G 6: 142,354,731 S196A probably benign Het
Rbm42 G A 7: 30,645,705 P185S unknown Het
Ror2 T A 13: 53,111,164 I619F probably damaging Het
Slitrk4 T G X: 64,270,949 E704A probably benign Het
Sycp1 A G 3: 102,865,114 V626A probably benign Het
Ugt1a6b T A 1: 88,107,805 probably benign Het
Ulk4 T A 9: 121,141,831 probably null Het
Zfp618 G T 4: 63,133,536 K758N probably damaging Het
Zfp819 G T 7: 43,612,110 probably null Het
Other mutations in Trmt44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Trmt44 APN 5 35568803 missense possibly damaging 0.61
IGL02223:Trmt44 APN 5 35574645 missense probably benign 0.00
IGL02273:Trmt44 APN 5 35574113 missense probably damaging 1.00
IGL02667:Trmt44 APN 5 35571052 missense probably damaging 1.00
IGL03144:Trmt44 APN 5 35564422 missense probably benign 0.27
R0207:Trmt44 UTSW 5 35572917 missense possibly damaging 0.95
R0540:Trmt44 UTSW 5 35568759 critical splice donor site probably null
R0607:Trmt44 UTSW 5 35568759 critical splice donor site probably null
R1681:Trmt44 UTSW 5 35569977 missense probably benign 0.13
R1746:Trmt44 UTSW 5 35564059 missense probably benign 0.00
R2128:Trmt44 UTSW 5 35574832 missense probably benign 0.05
R4190:Trmt44 UTSW 5 35574970 missense possibly damaging 0.60
R4611:Trmt44 UTSW 5 35575007 missense probably benign 0.13
R4684:Trmt44 UTSW 5 35558043 missense probably benign 0.07
R5114:Trmt44 UTSW 5 35565468 missense possibly damaging 0.67
R5951:Trmt44 UTSW 5 35572688 unclassified probably benign
R6125:Trmt44 UTSW 5 35565498 missense probably damaging 1.00
R7131:Trmt44 UTSW 5 35571066 missense probably damaging 1.00
R7239:Trmt44 UTSW 5 35574786 missense probably benign 0.00
R7265:Trmt44 UTSW 5 35564303 missense probably benign 0.13
R7561:Trmt44 UTSW 5 35557992 missense possibly damaging 0.47
R8543:Trmt44 UTSW 5 35575030 missense probably benign 0.01
R8552:Trmt44 UTSW 5 35565400 missense probably benign 0.04
R8560:Trmt44 UTSW 5 35557951 missense probably benign 0.00
R8850:Trmt44 UTSW 5 35564329 missense probably benign 0.02
R9209:Trmt44 UTSW 5 35574078 critical splice donor site probably null
R9330:Trmt44 UTSW 5 35569920 missense probably damaging 1.00
R9588:Trmt44 UTSW 5 35569912 missense probably damaging 1.00
Posted On 2015-04-16