Incidental Mutation 'IGL01959:Trmt1'
ID182328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt1
Ensembl Gene ENSMUSG00000001909
Gene NametRNA methyltransferase 1
SynonymsD8Ertd812e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.793) question?
Stock #IGL01959
Quality Score
Status
Chromosome8
Chromosomal Location84686307-84699808 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 84691376 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001974] [ENSMUST00000001975] [ENSMUST00000109767] [ENSMUST00000109768] [ENSMUST00000125370] [ENSMUST00000131700] [ENSMUST00000143427] [ENSMUST00000152301] [ENSMUST00000175784] [ENSMUST00000177084] [ENSMUST00000177423] [ENSMUST00000177531]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001974
AA Change: M192K

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001974
Gene: ENSMUSG00000001909
AA Change: M192K

DomainStartEndE-ValueType
Pfam:TRM 55 499 3.5e-151 PFAM
Pfam:Met_10 141 256 1.3e-8 PFAM
ZnF_C3H1 599 625 3.55e-6 SMART
low complexity region 648 661 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000001975
SMART Domains Protein: ENSMUSP00000001975
Gene: ENSMUSG00000001910

DomainStartEndE-ValueType
BTB 30 124 4.05e-25 SMART
low complexity region 135 146 N/A INTRINSIC
low complexity region 224 235 N/A INTRINSIC
low complexity region 252 264 N/A INTRINSIC
low complexity region 267 281 N/A INTRINSIC
BEN 382 457 6.4e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000077990
Predicted Effect possibly damaging
Transcript: ENSMUST00000109767
AA Change: M192K

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105389
Gene: ENSMUSG00000001909
AA Change: M192K

DomainStartEndE-ValueType
Pfam:TRM 55 499 4.9e-149 PFAM
Pfam:Met_10 142 256 3.4e-8 PFAM
ZnF_C3H1 599 625 3.55e-6 SMART
low complexity region 648 661 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109768
AA Change: M185K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105390
Gene: ENSMUSG00000001909
AA Change: M185K

DomainStartEndE-ValueType
Pfam:TRM 48 492 3.1e-149 PFAM
Pfam:Met_10 135 249 4.4e-8 PFAM
ZnF_C3H1 592 618 3.55e-6 SMART
low complexity region 641 654 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000125370
AA Change: M192K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135510
Gene: ENSMUSG00000001909
AA Change: M192K

DomainStartEndE-ValueType
Pfam:TRM 55 470 1.7e-140 PFAM
Pfam:Met_10 142 256 2.8e-8 PFAM
ZnF_C3H1 570 596 3.55e-6 SMART
low complexity region 619 632 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128537
Predicted Effect probably benign
Transcript: ENSMUST00000131700
SMART Domains Protein: ENSMUSP00000122526
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
Pfam:TRM 54 108 3.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137953
Predicted Effect probably benign
Transcript: ENSMUST00000143427
SMART Domains Protein: ENSMUSP00000117140
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
Pfam:TRM 47 98 3.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150085
Predicted Effect possibly damaging
Transcript: ENSMUST00000152301
AA Change: M195K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116712
Gene: ENSMUSG00000001909
AA Change: M195K

DomainStartEndE-ValueType
Pfam:TRM 54 242 4.2e-49 PFAM
Pfam:Met_10 145 229 2.3e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000175784
AA Change: M195K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135273
Gene: ENSMUSG00000001909
AA Change: M195K

DomainStartEndE-ValueType
Pfam:TRM 54 221 8.6e-39 PFAM
Pfam:Met_10 144 221 5.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176914
Predicted Effect possibly damaging
Transcript: ENSMUST00000177084
AA Change: M167K

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135675
Gene: ENSMUSG00000001909
AA Change: M167K

DomainStartEndE-ValueType
Pfam:TRM 29 260 4.1e-76 PFAM
Pfam:Met_10 117 231 4.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177364
Predicted Effect possibly damaging
Transcript: ENSMUST00000177423
AA Change: M188K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135327
Gene: ENSMUSG00000001909
AA Change: M188K

DomainStartEndE-ValueType
Pfam:TRM 47 262 1.4e-66 PFAM
Pfam:Met_10 138 252 5.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177531
SMART Domains Protein: ENSMUSP00000135540
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
Pfam:TRM 54 174 1.8e-21 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T C 11: 51,091,818 noncoding transcript Het
Aip A G 19: 4,121,397 I13T probably damaging Het
Cacna2d1 C T 5: 16,212,897 P140S probably benign Het
Cald1 A G 6: 34,753,468 D40G probably damaging Het
Cep250 T A 2: 155,983,359 V1052E possibly damaging Het
Chd1 A G 17: 15,742,173 N731D probably damaging Het
Chml C T 1: 175,687,600 V252I probably benign Het
Cog8 T C 8: 107,056,378 Y93C probably damaging Het
Creld1 G A 6: 113,492,833 A399T probably damaging Het
Cyp2a4 T A 7: 26,307,708 V80E probably damaging Het
Cyp2c37 T A 19: 39,995,833 L255* probably null Het
Cyp2d12 C A 15: 82,555,344 probably benign Het
Dimt1 A G 13: 106,953,455 I229V probably benign Het
Dsc1 G A 18: 20,097,225 T341I probably damaging Het
Ercc3 T A 18: 32,257,358 F567I probably damaging Het
Espl1 C A 15: 102,305,662 probably benign Het
Fcrls T C 3: 87,259,632 D18G probably damaging Het
Fnip1 T A 11: 54,490,912 S296R possibly damaging Het
Fzd5 C A 1: 64,735,946 A219S possibly damaging Het
Gbp7 A G 3: 142,541,347 probably benign Het
Gm3298 T C 14: 5,018,731 L162S probably damaging Het
Hspa1l A G 17: 34,977,135 E50G probably damaging Het
Ipo9 T C 1: 135,420,355 probably null Het
Kazn A G 4: 142,150,884 L185P probably damaging Het
Kcnh8 T C 17: 52,834,607 S293P probably damaging Het
Lrp1b T C 2: 41,312,527 T1191A probably damaging Het
Mnat1 A G 12: 73,181,931 probably benign Het
Msx2 C T 13: 53,468,602 probably benign Het
Ndufs2 T G 1: 171,237,229 I317L probably benign Het
Nms T C 1: 38,941,925 probably benign Het
Oosp3 T A 19: 11,700,922 F87L probably benign Het
Pask A G 1: 93,334,607 V177A probably benign Het
Poldip2 G T 11: 78,512,307 probably benign Het
Prr14l A T 5: 32,830,205 S649T possibly damaging Het
Slc6a18 T A 13: 73,677,865 N22I probably damaging Het
Smco2 T A 6: 146,861,710 S228T probably benign Het
Speer4a G A 5: 26,035,904 Q197* probably null Het
Speg A G 1: 75,391,090 K641R probably damaging Het
Strip2 G A 6: 29,928,554 V286M probably damaging Het
Tnfrsf22 C T 7: 143,643,275 probably null Het
Tnpo3 A G 6: 29,589,020 probably benign Het
Top2b T A 14: 16,422,695 N1377K probably benign Het
Trpm1 A G 7: 64,208,975 M266V possibly damaging Het
Vmn1r199 A G 13: 22,383,120 T195A probably benign Het
Vmn2r10 A G 5: 108,997,705 V512A probably benign Het
Zfp777 A G 6: 48,044,341 F116L probably benign Het
Zp3r T A 1: 130,591,451 K253* probably null Het
Other mutations in Trmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Trmt1 APN 8 84695509 missense possibly damaging 0.92
IGL02127:Trmt1 APN 8 84697471 missense probably damaging 1.00
IGL02689:Trmt1 APN 8 84699756 unclassified probably benign
IGL03087:Trmt1 APN 8 84695233 missense probably damaging 1.00
IGL02835:Trmt1 UTSW 8 84696960 missense probably null 1.00
PIT4418001:Trmt1 UTSW 8 84697670 missense probably damaging 0.97
R0395:Trmt1 UTSW 8 84697112 splice site probably null
R0964:Trmt1 UTSW 8 84696852 missense probably damaging 1.00
R1881:Trmt1 UTSW 8 84689267 intron probably benign
R2190:Trmt1 UTSW 8 84689841 nonsense probably null
R2197:Trmt1 UTSW 8 84690858 missense probably damaging 1.00
R2979:Trmt1 UTSW 8 84696882 missense probably damaging 1.00
R3813:Trmt1 UTSW 8 84695217 unclassified probably benign
R4407:Trmt1 UTSW 8 84697755 unclassified probably benign
R4461:Trmt1 UTSW 8 84699149 missense probably benign 0.01
R4588:Trmt1 UTSW 8 84690753 intron probably benign
R5170:Trmt1 UTSW 8 84695232 missense probably damaging 1.00
R6299:Trmt1 UTSW 8 84697290 nonsense probably null
R6614:Trmt1 UTSW 8 84689333 missense probably benign
R6666:Trmt1 UTSW 8 84698454 missense probably damaging 1.00
R7669:Trmt1 UTSW 8 84697551 missense probably benign 0.05
Posted On2014-05-07