Incidental Mutation 'IGL03087:Trmt1'
ID418162
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? Possibly essential (E-score: 0.699) question?
Stock #IGL03087
Quality Score
Status
Chromosome8
Chromosomal Location84686307-84699808 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84695233 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 213 (Y213C)
Ref Sequence ENSEMBL: ENSMUSP00000135327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001974] [ENSMUST00000109767] [ENSMUST00000109768] [ENSMUST00000125370] [ENSMUST00000131700] [ENSMUST00000143427] [ENSMUST00000177084] [ENSMUST00000152301] [ENSMUST00000175784] [ENSMUST00000177423] [ENSMUST00000177531]
Predicted Effect probably damaging
Transcript: ENSMUST00000001974
AA Change: Y217C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001974
Gene: ENSMUSG00000001909
AA Change: Y217C

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 noncoding transcript
Transcript: ENSMUST00000077990
Predicted Effect probably damaging
Transcript: ENSMUST00000109767
AA Change: Y217C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105389
Gene: ENSMUSG00000001909
AA Change: Y217C

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 probably damaging
Transcript: ENSMUST00000109768
AA Change: Y210C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105390
Gene: ENSMUSG00000001909
AA Change: Y210C

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 probably damaging
Transcript: ENSMUST00000125370
AA Change: Y217C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135510
Gene: ENSMUSG00000001909
AA Change: Y217C

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 probably benign
Transcript: ENSMUST00000136423
SMART Domains Protein: ENSMUSP00000134723
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
low complexity region 190 203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138300
Predicted Effect probably benign
Transcript: ENSMUST00000143427
SMART Domains Protein: ENSMUSP00000117140
Gene: ENSMUSG00000001909

DomainStartEndE-ValueType
Pfam:TRM 47 98 3.2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177084
AA Change: Y192C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135675
Gene: ENSMUSG00000001909
AA Change: Y192C

DomainStartEndE-ValueType
Pfam:TRM 29 260 4.1e-76 PFAM
Pfam:Met_10 117 231 4.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152301
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116712
Gene: ENSMUSG00000001909
AA Change: Y220C

DomainStartEndE-ValueType
Pfam:TRM 54 242 4.2e-49 PFAM
Pfam:Met_10 145 229 2.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175784
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135273
Gene: ENSMUSG00000001909
AA Change: Y220C

DomainStartEndE-ValueType
Pfam:TRM 54 221 8.6e-39 PFAM
Pfam:Met_10 144 221 5.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177423
AA Change: Y213C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135327
Gene: ENSMUSG00000001909
AA Change: Y213C

DomainStartEndE-ValueType
Pfam:TRM 47 262 1.4e-66 PFAM
Pfam:Met_10 138 252 5.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175704
Predicted Effect probably benign
Transcript: ENSMUST00000175884
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 24,997,632 probably benign Het
Acbd5 A G 2: 23,089,710 T261A probably benign Het
Ap1g2 G A 14: 55,103,036 T331I probably damaging Het
Ap4m1 A G 5: 138,174,804 T150A probably benign Het
Arid4a G T 12: 71,075,245 R478L possibly damaging Het
Bard1 T C 1: 71,067,130 D446G probably damaging Het
Baz2a T C 10: 128,122,313 L1087P probably damaging Het
Bnc1 A G 7: 81,974,642 L279P possibly damaging Het
Bphl A T 13: 34,073,711 H275L probably damaging Het
Ces1c T C 8: 93,118,414 I120V probably benign Het
Csmd3 T A 15: 47,977,033 Y946F probably damaging Het
Dnah8 G A 17: 30,784,144 V3606I probably benign Het
Eef2 A G 10: 81,181,247 N696S probably benign Het
Eno4 A G 19: 58,962,816 H420R possibly damaging Het
Enpp1 T A 10: 24,655,881 probably benign Het
Fbxo25 T C 8: 13,924,019 probably null Het
Glt8d1 T A 14: 31,010,096 F155I probably damaging Het
Golim4 A T 3: 75,878,673 H598Q possibly damaging Het
Hnrnpdl T A 5: 100,037,601 E149D probably damaging Het
Ifngr2 G T 16: 91,563,004 *333L probably null Het
Ift88 T C 14: 57,477,957 S486P probably benign Het
Igsf9 T C 1: 172,490,743 I150T probably benign Het
Jag2 G A 12: 112,913,948 L670F possibly damaging Het
Kcnc2 T A 10: 112,455,747 I280N probably benign Het
Kif18a A G 2: 109,318,117 probably benign Het
Lct A G 1: 128,300,375 L1127P possibly damaging Het
Lonrf1 A T 8: 36,225,551 probably null Het
Lyst T A 13: 13,635,056 I437N probably damaging Het
Map3k1 A G 13: 111,749,025 S1453P probably benign Het
Mcmdc2 A G 1: 9,930,945 M482V possibly damaging Het
Mical1 T C 10: 41,482,690 S535P probably damaging Het
Myh3 T C 11: 67,090,972 F765L probably damaging Het
Nat8f6 A T 6: 85,808,517 Y217N probably damaging Het
Ndufaf1 A G 2: 119,655,799 probably benign Het
Neurod6 A T 6: 55,678,775 C292* probably null Het
Olfr1106 A T 2: 87,049,012 S75T possibly damaging Het
Olfr1255 A G 2: 89,816,671 E109G probably damaging Het
Olfr530 T A 7: 140,373,092 I173F probably damaging Het
Olfr809 A T 10: 129,776,261 M116L probably damaging Het
Olfr828 T C 9: 18,816,084 D70G probably damaging Het
Pcdhac2 A G 18: 37,145,682 N572D probably damaging Het
Pfpl A G 19: 12,428,877 N164S probably benign Het
Pi4kb A G 3: 94,984,764 R264G probably benign Het
Pla2g2c T A 4: 138,731,612 F10I probably benign Het
Rag2 G A 2: 101,630,214 V290I probably benign Het
Rhot2 G A 17: 25,841,141 probably benign Het
Rps6kc1 T C 1: 190,871,711 Y238C probably damaging Het
Scyl2 G T 10: 89,652,968 A495D possibly damaging Het
Sept4 T A 11: 87,585,245 probably benign Het
Serpina5 G T 12: 104,101,733 A18S probably benign Het
Slc25a11 T C 11: 70,645,207 T234A probably benign Het
Slc44a2 C T 9: 21,346,765 T435I probably benign Het
Tekt2 T A 4: 126,324,867 Q31L possibly damaging Het
Tfpi A G 2: 84,444,045 V199A possibly damaging Het
Trap1 G T 16: 4,044,701 probably null Het
Ubr4 C T 4: 139,450,357 R3184* probably null Het
Uroc1 G T 6: 90,363,103 probably benign Het
Vmn1r19 A G 6: 57,404,491 I10V probably benign Het
Zfhx2 G A 14: 55,072,845 A748V possibly damaging Het
Other mutations in Trmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Trmt1 APN 8 84695509 missense possibly damaging 0.92
IGL01959:Trmt1 APN 8 84691376 splice site probably null
IGL02127:Trmt1 APN 8 84697471 missense probably damaging 1.00
IGL02689:Trmt1 APN 8 84699756 unclassified probably benign
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
R7952:Trmt1 UTSW 8 84689340 missense possibly damaging 0.50
Z1176:Trmt1 UTSW 8 84698240 missense possibly damaging 0.95
Z1176:Trmt1 UTSW 8 84699198 missense possibly damaging 0.95
Posted On2016-08-02