Incidental Mutation 'IGL00088:Trmt2a'
ID 861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt2a
Ensembl Gene ENSMUSG00000022721
Gene Name TRM2 tRNA methyltransferase 2A
Synonyms Htf9c
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00088
Quality Score
Status
Chromosome 16
Chromosomal Location 18066711-18072636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18067351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 8 (V8D)
Ref Sequence ENSEMBL: ENSMUSP00000121216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009321] [ENSMUST00000052325] [ENSMUST00000100099] [ENSMUST00000115640] [ENSMUST00000115645] [ENSMUST00000140206] [ENSMUST00000128045] [ENSMUST00000231509]
AlphaFold Q8BNV1
Predicted Effect probably benign
Transcript: ENSMUST00000009321
SMART Domains Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718

DomainStartEndE-ValueType
low complexity region 165 176 N/A INTRINSIC
WW 302 334 7.26e-6 SMART
low complexity region 411 421 N/A INTRINSIC
DSRM 512 577 5.68e-10 SMART
DSRM 620 685 8.26e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052325
SMART Domains Protein: ENSMUSP00000055288
Gene: ENSMUSG00000005732

DomainStartEndE-ValueType
RanBD 1 108 4.92e-46 SMART
coiled coil region 123 153 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059696
Predicted Effect probably benign
Transcript: ENSMUST00000100099
AA Change: V8D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111303
Gene: ENSMUSG00000022721
AA Change: V8D

DomainStartEndE-ValueType
low complexity region 35 44 N/A INTRINSIC
RRM 64 132 1.37e-2 SMART
coiled coil region 171 195 N/A INTRINSIC
Pfam:tRNA_U5-meth_tr 380 579 1.2e-20 PFAM
Pfam:PCMT 386 482 1.1e-8 PFAM
Pfam:MTS 389 489 6.2e-9 PFAM
Pfam:Methyltransf_4 397 497 4.2e-7 PFAM
Pfam:Methyltransf_31 420 546 6.2e-15 PFAM
Pfam:Methyltransf_18 422 523 9.3e-11 PFAM
Pfam:Methyltransf_26 423 538 5.3e-12 PFAM
Pfam:Methyltransf_25 426 511 3.5e-8 PFAM
Pfam:Methyltransf_11 427 487 5.6e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115640
AA Change: V8D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111304
Gene: ENSMUSG00000022721
AA Change: V8D

DomainStartEndE-ValueType
low complexity region 35 44 N/A INTRINSIC
RRM 64 132 1.37e-2 SMART
coiled coil region 171 195 N/A INTRINSIC
Pfam:tRNA_U5-meth_tr 380 579 2.6e-20 PFAM
Pfam:PCMT 386 482 3.4e-9 PFAM
Pfam:MTS 392 489 1e-7 PFAM
Pfam:Cons_hypoth95 405 542 2.7e-7 PFAM
Pfam:Methyltransf_31 420 547 2.1e-15 PFAM
Pfam:Methyltransf_18 422 526 2.9e-12 PFAM
Pfam:Methyltransf_4 423 499 2.6e-7 PFAM
Pfam:Methyltransf_25 426 511 1.3e-8 PFAM
Pfam:Methyltransf_11 427 489 3.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115645
SMART Domains Protein: ENSMUSP00000111309
Gene: ENSMUSG00000005732

DomainStartEndE-ValueType
RanBD 27 158 3.33e-75 SMART
low complexity region 183 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140206
AA Change: V8D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121216
Gene: ENSMUSG00000022721
AA Change: V8D

DomainStartEndE-ValueType
low complexity region 35 44 N/A INTRINSIC
RRM 64 132 1.37e-2 SMART
coiled coil region 171 195 N/A INTRINSIC
Pfam:tRNA_U5-meth_tr 383 481 3.7e-8 PFAM
Pfam:PCMT 386 481 1.5e-6 PFAM
Pfam:MTS 389 493 2.5e-7 PFAM
Pfam:Methyltransf_31 420 491 1.5e-9 PFAM
Pfam:Methyltransf_18 422 508 4.1e-8 PFAM
Pfam:Methyltransf_26 423 523 3.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127239
Predicted Effect probably benign
Transcript: ENSMUST00000128045
Predicted Effect probably benign
Transcript: ENSMUST00000145112
SMART Domains Protein: ENSMUSP00000117026
Gene: ENSMUSG00000022721

DomainStartEndE-ValueType
Pfam:PCMT 118 220 4.2e-7 PFAM
Pfam:tRNA_U5-meth_tr 118 280 4e-16 PFAM
Pfam:MTS 129 229 5.4e-6 PFAM
Pfam:Cons_hypoth95 143 277 6.5e-5 PFAM
Pfam:PrmA 146 234 2e-4 PFAM
Pfam:Ubie_methyltran 148 223 1e-4 PFAM
Pfam:Methyltransf_31 158 271 6.1e-14 PFAM
Pfam:Methyltransf_18 160 263 8.3e-11 PFAM
Pfam:Methyltransf_4 161 237 7.1e-5 PFAM
Pfam:Methyltransf_26 161 274 2e-6 PFAM
Pfam:Methyltransf_25 164 251 5.2e-7 PFAM
Pfam:Methyltransf_11 165 227 9.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000232144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232015
Predicted Effect probably benign
Transcript: ENSMUST00000231509
Predicted Effect probably benign
Transcript: ENSMUST00000232293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232342
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 of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,798,512 (GRCm39) probably benign Het
Anpep A G 7: 79,475,484 (GRCm39) V879A possibly damaging Het
Asb13 T G 13: 3,693,476 (GRCm39) V78G probably null Het
Atad2b A G 12: 5,074,593 (GRCm39) R1051G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
C1ql2 G T 1: 120,269,399 (GRCm39) G185C probably damaging Het
Catsperg2 A G 7: 29,404,829 (GRCm39) S745P possibly damaging Het
Col19a1 A T 1: 24,600,387 (GRCm39) S52T unknown Het
Col4a2 G T 8: 11,493,685 (GRCm39) G1418V probably damaging Het
Crnkl1 C T 2: 145,760,388 (GRCm39) D677N possibly damaging Het
Cyp2j8 T A 4: 96,392,079 (GRCm39) N125I probably benign Het
Cyp2t4 A T 7: 26,854,723 (GRCm39) M68L probably benign Het
Dclk2 T A 3: 86,706,397 (GRCm39) probably null Het
Dmxl2 T C 9: 54,308,988 (GRCm39) D1921G probably benign Het
Dnah10 G A 5: 124,905,667 (GRCm39) G4104S probably damaging Het
Echdc2 T C 4: 108,036,108 (GRCm39) I273T probably damaging Het
Extl1 T C 4: 134,085,330 (GRCm39) K596E probably damaging Het
Fads3 A T 19: 10,029,663 (GRCm39) D108V probably null Het
Fam135b A G 15: 71,322,343 (GRCm39) L1274P probably damaging Het
Fat1 T A 8: 45,477,639 (GRCm39) H2228Q possibly damaging Het
Gcc2 C T 10: 58,128,502 (GRCm39) H1341Y probably damaging Het
Gls2 A G 10: 128,036,840 (GRCm39) probably null Het
Gpr137 A C 19: 6,917,072 (GRCm39) V139G probably damaging Het
Ikbke A G 1: 131,197,749 (GRCm39) probably null Het
Irak2 A T 6: 113,655,636 (GRCm39) N285Y probably benign Het
Kcnu1 G A 8: 26,387,884 (GRCm39) C566Y probably benign Het
Klhl29 G A 12: 5,190,705 (GRCm39) P97S probably benign Het
Lama4 T C 10: 38,941,591 (GRCm39) probably benign Het
Lhx6 G A 2: 35,981,728 (GRCm39) probably benign Het
Mdn1 T C 4: 32,723,651 (GRCm39) L2529P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Naa15 T A 3: 51,345,826 (GRCm39) V19D probably damaging Het
Ncbp3 A T 11: 72,964,355 (GRCm39) probably benign Het
Nckipsd G A 9: 108,692,168 (GRCm39) V530I probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Nnmt A T 9: 48,503,224 (GRCm39) probably benign Het
Nup58 T A 14: 60,480,026 (GRCm39) I207L probably benign Het
Or14j2 A T 17: 37,885,808 (GRCm39) C169S probably damaging Het
Or5ae1 T A 7: 84,565,578 (GRCm39) M197K probably damaging Het
Or5k16 C T 16: 58,736,213 (GRCm39) E264K probably benign Het
Otud4 T A 8: 80,399,510 (GRCm39) N741K probably damaging Het
Pard6a T A 8: 106,429,833 (GRCm39) C264S probably benign Het
Plch2 T C 4: 155,091,099 (GRCm39) N276S probably damaging Het
Pramel31 T A 4: 144,089,100 (GRCm39) H139Q possibly damaging Het
Pramel32 T A 4: 88,547,307 (GRCm39) K121N probably benign Het
Racgap1 T C 15: 99,534,003 (GRCm39) probably benign Het
Rad51d T C 11: 82,780,572 (GRCm39) D70G probably damaging Het
Recql4 C T 15: 76,591,536 (GRCm39) A484T possibly damaging Het
Reg3g A T 6: 78,443,762 (GRCm39) S149T probably benign Het
Rpl13a C A 7: 44,776,495 (GRCm39) probably null Het
Scn10a T C 9: 119,501,292 (GRCm39) Y164C probably damaging Het
Scn2a A G 2: 65,594,784 (GRCm39) I1878V probably benign Het
Sgcg T A 14: 61,477,796 (GRCm39) R98* probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tas2r140 A T 6: 40,468,274 (GRCm39) I35F probably benign Het
Tex19.2 A G 11: 121,007,638 (GRCm39) F270S possibly damaging Het
Traip C T 9: 107,847,749 (GRCm39) R391W probably benign Het
Trim7 A G 11: 48,736,398 (GRCm39) N251D probably damaging Het
Tut7 T C 13: 59,964,512 (GRCm39) E221G probably damaging Het
Ubr3 A C 2: 69,819,154 (GRCm39) I9L probably benign Het
Usp42 A G 5: 143,702,897 (GRCm39) S575P probably benign Het
Vmn2r52 G T 7: 9,903,023 (GRCm39) H468Q probably benign Het
Vmn2r59 T A 7: 41,661,488 (GRCm39) T776S possibly damaging Het
Other mutations in Trmt2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0050:Trmt2a UTSW 16 18,068,707 (GRCm39) missense probably damaging 1.00
R0050:Trmt2a UTSW 16 18,068,707 (GRCm39) missense probably damaging 1.00
R0377:Trmt2a UTSW 16 18,067,567 (GRCm39) missense possibly damaging 0.68
R0699:Trmt2a UTSW 16 18,067,393 (GRCm39) missense probably benign 0.01
R1034:Trmt2a UTSW 16 18,067,573 (GRCm39) missense probably damaging 1.00
R1114:Trmt2a UTSW 16 18,068,304 (GRCm39) unclassified probably benign
R1882:Trmt2a UTSW 16 18,067,758 (GRCm39) missense possibly damaging 0.88
R1911:Trmt2a UTSW 16 18,069,070 (GRCm39) missense probably benign 0.01
R2184:Trmt2a UTSW 16 18,070,859 (GRCm39) missense probably benign 0.06
R3853:Trmt2a UTSW 16 18,069,055 (GRCm39) missense possibly damaging 0.94
R4427:Trmt2a UTSW 16 18,067,093 (GRCm39) unclassified probably benign
R4737:Trmt2a UTSW 16 18,069,150 (GRCm39) unclassified probably benign
R4896:Trmt2a UTSW 16 18,070,793 (GRCm39) missense probably damaging 0.99
R4903:Trmt2a UTSW 16 18,067,418 (GRCm39) nonsense probably null
R4964:Trmt2a UTSW 16 18,067,418 (GRCm39) nonsense probably null
R4966:Trmt2a UTSW 16 18,067,418 (GRCm39) nonsense probably null
R5216:Trmt2a UTSW 16 18,070,048 (GRCm39) missense probably benign 0.22
R5452:Trmt2a UTSW 16 18,068,814 (GRCm39) missense probably damaging 1.00
R5837:Trmt2a UTSW 16 18,067,326 (GRCm39) unclassified probably benign
R6555:Trmt2a UTSW 16 18,071,067 (GRCm39) missense probably benign 0.03
R6670:Trmt2a UTSW 16 18,068,341 (GRCm39) missense possibly damaging 0.57
R7064:Trmt2a UTSW 16 18,070,868 (GRCm39) missense probably damaging 0.99
R7718:Trmt2a UTSW 16 18,068,487 (GRCm39) missense probably benign 0.16
R8302:Trmt2a UTSW 16 18,067,813 (GRCm39) missense probably damaging 1.00
R8463:Trmt2a UTSW 16 18,069,039 (GRCm39) missense probably damaging 1.00
R9120:Trmt2a UTSW 16 18,067,722 (GRCm39) missense probably damaging 1.00
R9186:Trmt2a UTSW 16 18,069,033 (GRCm39) missense probably benign 0.00
R9487:Trmt2a UTSW 16 18,068,814 (GRCm39) missense probably damaging 1.00
R9710:Trmt2a UTSW 16 18,070,041 (GRCm39) nonsense probably null
Posted On 2011-07-12