Incidental Mutation 'IGL02273:Trmt44'
ID287249
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: 0.090) question?
Stock #IGL02273
Quality Score
Status
Chromosome5
Chromosomal Location35556203-35575070 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35574113 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 190 (Y190C)
Ref Sequence ENSEMBL: ENSMUSP00000030980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030980]
Predicted Effect probably damaging
Transcript: ENSMUST00000030980
AA Change: Y190C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: Y190C

DomainStartEndE-ValueType
Pfam:AdoMet_MTase 252 363 3.1e-42 PFAM
low complexity region 524 540 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000128195
AA Change: Y66C
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik T C 7: 126,830,759 T89A probably benign Het
4932438A13Rik T A 3: 36,921,437 probably benign Het
Amhr2 T C 15: 102,452,489 V353A probably benign Het
Bbox1 A T 2: 110,275,616 Y194* probably null Het
Bnipl C A 3: 95,245,775 R131L possibly damaging Het
Casp8ap2 T C 4: 32,643,974 S1016P probably damaging Het
Cblb A G 16: 52,047,294 I88M possibly damaging Het
Cyp24a1 A T 2: 170,496,358 Y89N probably damaging Het
Ddx25 G T 9: 35,546,826 N332K possibly damaging Het
Dnaaf5 C T 5: 139,177,916 Q348* probably null Het
Dnah3 A T 7: 119,951,271 I3264N probably damaging Het
Eml4 T A 17: 83,456,379 probably null Het
Farsa C T 8: 84,867,826 A368V probably damaging Het
Fat1 T C 8: 44,950,331 Y40H probably damaging Het
Glt1d1 T A 5: 127,657,144 probably benign Het
Gm5422 A G 10: 31,250,007 noncoding transcript Het
Gpr135 A G 12: 72,069,958 I345T probably damaging Het
Hmcn2 G A 2: 31,424,377 V3616I probably benign Het
Kif9 A T 9: 110,510,470 K460M probably damaging Het
Ldhd T C 8: 111,627,290 E426G probably benign Het
Mdh1 A T 11: 21,559,786 N196K probably benign Het
Nfkb1 A T 3: 135,605,207 C444S probably benign Het
Pfkfb2 G A 1: 130,707,582 R81C probably damaging Het
Pfpl T C 19: 12,429,963 V526A possibly damaging Het
Phf20l1 T A 15: 66,640,025 V951E probably damaging Het
Pik3cg A T 12: 32,176,810 L1026Q probably damaging Het
Pms1 T C 1: 53,207,997 N263S probably damaging Het
Prkcb T A 7: 122,627,767 F659I probably damaging Het
Prr14 A G 7: 127,475,936 I69M probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Senp5 T C 16: 31,989,872 H161R probably benign Het
Spc25 A G 2: 69,204,929 probably benign Het
Spty2d1 A G 7: 46,997,573 V536A probably damaging Het
Susd2 A G 10: 75,640,938 S84P possibly damaging Het
Tacc1 A C 8: 25,159,781 L768V probably damaging Het
Tbpl2 A T 2: 24,096,519 I5N probably benign Het
Tmc2 A G 2: 130,229,206 D285G probably damaging Het
Tns3 A T 11: 8,434,531 V1429E probably damaging Het
Ubr4 G A 4: 139,472,578 R4591H possibly damaging Het
Zfc3h1 T A 10: 115,427,099 D1739E probably benign Het
Zfp26 A G 9: 20,441,448 V107A probably damaging 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
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 On2015-04-16