Incidental Mutation 'IGL02667:Trmt44'
ID302774
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: 0.121) question?
Stock #IGL02667
Quality Score
Status
Chromosome5
Chromosomal Location35556203-35575070 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 35571052 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 295 (Y295D)
Ref Sequence ENSEMBL: ENSMUSP00000030980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030980]
Predicted Effect probably damaging
Transcript: ENSMUST00000030980
AA Change: Y295D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: Y295D

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6530409C15Rik A G 6: 28,217,671 noncoding transcript Het
Akr1e1 G A 13: 4,595,667 P174L possibly damaging Het
Arf5 C A 6: 28,425,199 N95K probably damaging Het
Atl3 T C 19: 7,509,416 F39L possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cyp2a12 T C 7: 27,031,158 S183P probably damaging Het
Dicer1 T A 12: 104,714,906 R449S probably damaging Het
Dlec1 T C 9: 119,127,466 I736T probably benign Het
Eny2 T A 15: 44,429,588 M12K possibly damaging Het
Fbxl21 C T 13: 56,537,129 R349C probably benign Het
Gstm2 A G 3: 107,986,108 L13P probably damaging Het
Gucy2g G A 19: 55,206,177 T936M possibly damaging Het
Mbp G T 18: 82,554,615 K12N probably damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myo18a A G 11: 77,857,852 probably benign Het
Nr2f2 T C 7: 70,357,985 S117G probably damaging Het
Pi4k2b T C 5: 52,750,605 probably benign Het
Pi4ka A G 16: 17,295,461 F1504L possibly damaging Het
Ppm1d T C 11: 85,332,285 W239R probably damaging Het
Setd1b T A 5: 123,157,497 S1043T unknown Het
Tgfbrap1 T C 1: 43,067,620 I298V probably benign Het
Tmem190 T A 7: 4,783,158 D20E probably benign Het
Tph2 A T 10: 115,080,045 C408S probably benign Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubn1 A G 16: 5,062,599 E134G probably damaging Het
Zcchc11 T C 4: 108,558,708 probably benign Het
Other mutations in Trmt44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Trmt44 APN 5 35568803 missense possibly damaging 0.61
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
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 On2015-04-16