Incidental Mutation 'IGL01325:Trmt44'
ID74226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt44
Ensembl Gene ENSMUSG00000029097
Gene NametRNA methyltransferase 44
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL01325
Quality Score
Status
Chromosome5
Chromosomal Location35556203-35575070 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35568803 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 343 (R343S)
Ref Sequence ENSEMBL: ENSMUSP00000030980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030980]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030980
AA Change: R343S

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: R343S

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 60,853,533 T127A probably damaging Het
Acrv1 T A 9: 36,698,514 M227K probably benign Het
Adam22 T C 5: 8,127,333 N592S probably benign Het
Adamts15 T A 9: 30,921,688 I184F possibly damaging Het
Adcy1 T C 11: 7,064,102 V168A possibly damaging Het
Arl6ip5 T C 6: 97,232,540 F179L probably benign Het
Asxl2 G T 12: 3,427,172 R6L probably damaging Het
Btaf1 T A 19: 37,004,649 probably benign Het
Ccdc136 T C 6: 29,412,950 F445L probably benign Het
Cpne3 T C 4: 19,535,229 S268G probably benign Het
Crtc3 C T 7: 80,677,368 R70Q probably damaging Het
Fam169a C A 13: 97,122,699 A421E probably benign Het
Fhod1 A T 8: 105,331,649 M825K probably benign Het
Gjb2 T C 14: 57,100,221 T177A probably benign Het
Gm6576 A G 15: 27,025,884 noncoding transcript Het
Herpud2 A G 9: 25,113,911 V175A probably benign Het
Hmgxb3 T C 18: 61,134,006 D1052G probably damaging Het
Itpr1 T A 6: 108,381,208 F578L probably benign Het
Kdm7a T G 6: 39,158,309 probably benign Het
Krt76 A T 15: 101,884,888 S572T unknown Het
Lrrcc1 T C 3: 14,536,541 probably null Het
March9 A C 10: 127,057,590 V183G probably damaging Het
Mkl2 T C 16: 13,401,224 V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 D123E probably benign Het
Nhlh2 T G 3: 102,013,026 Y125D probably damaging Het
Nol4l A G 2: 153,436,351 probably benign Het
Npas1 C T 7: 16,463,322 G206D probably benign Het
Olfr651 T C 7: 104,553,689 F257L probably damaging Het
Olfr994 C A 2: 85,430,295 C178F possibly damaging Het
Pcdhb4 T A 18: 37,309,623 V662E probably damaging Het
Plxna3 G A X: 74,335,794 G758S probably damaging Het
Prdm15 T A 16: 97,806,517 N709Y probably damaging Het
Pygo2 C T 3: 89,432,446 probably benign Het
Ranbp2 T A 10: 58,476,298 S947T probably damaging Het
Rasgrp1 T A 2: 117,298,529 H203L probably damaging Het
Rbbp6 G A 7: 122,988,618 G270R probably damaging Het
Rcl1 A G 19: 29,121,262 probably null Het
Rpl23a-ps1 T C 1: 45,981,633 noncoding transcript Het
Serpinb7 T G 1: 107,435,380 H91Q probably damaging Het
Shd C T 17: 55,972,839 P111S possibly damaging Het
Slc35e1 G T 8: 72,483,758 probably benign Het
Srgap3 C T 6: 112,775,686 R279H probably damaging Het
Sstr4 G A 2: 148,395,552 E28K probably benign Het
Stip1 T C 19: 7,021,096 probably benign Het
Syne2 A G 12: 75,926,514 E1097G probably benign Het
Tbcd T A 11: 121,540,993 V489E probably damaging Het
Tnks2 T A 19: 36,871,633 S516R probably benign Het
Trps1 A G 15: 50,846,814 S47P probably benign Het
Ubr3 A C 2: 69,917,097 K235Q possibly damaging Het
Uckl1 G A 2: 181,574,961 Q48* probably null Het
Vat1 T C 11: 101,465,715 D140G probably benign Het
Vmn2r80 A G 10: 79,194,247 T636A possibly damaging Het
Zfp423 A T 8: 87,781,611 probably null Het
Zfp667 C A 7: 6,290,546 T15N probably damaging Het
Other mutations in Trmt44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02139:Trmt44 APN 5 35568799 nonsense probably null
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
Posted On2013-10-07