Incidental Mutation 'R4679:Trmt13'
ID349900
Institutional Source Beutler Lab
Gene Symbol Trmt13
Ensembl Gene ENSMUSG00000033439
Gene NametRNA methyltransferase 13
Synonyms
MMRRC Submission 041932-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #R4679 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location116581093-116614587 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 116589755 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 125 (K125E)
Ref Sequence ENSEMBL: ENSMUSP00000047320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041524] [ENSMUST00000134761] [ENSMUST00000183638] [ENSMUST00000184963] [ENSMUST00000197190] [ENSMUST00000198454]
Predicted Effect probably damaging
Transcript: ENSMUST00000041524
AA Change: K125E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439
AA Change: K125E

DomainStartEndE-ValueType
Pfam:zf-TRM13_CCCH 17 45 7.2e-17 PFAM
Pfam:zf-U11-48K 56 80 3.4e-12 PFAM
Pfam:TRM13 165 469 7e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124807
Predicted Effect probably benign
Transcript: ENSMUST00000134761
SMART Domains Protein: ENSMUSP00000138761
Gene: ENSMUSG00000033439

DomainStartEndE-ValueType
Pfam:zf-U11-48K 16 42 1.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156161
Predicted Effect probably damaging
Transcript: ENSMUST00000183638
AA Change: K125E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139223
Gene: ENSMUSG00000033439
AA Change: K125E

DomainStartEndE-ValueType
Pfam:zf-TRM13_CCCH 16 46 1.4e-17 PFAM
Pfam:zf-U11-48K 55 81 1.2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184963
AA Change: K125E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138868
Gene: ENSMUSG00000033439
AA Change: K125E

DomainStartEndE-ValueType
Pfam:zf-TRM13_CCCH 16 46 2.9e-17 PFAM
Pfam:zf-U11-48K 55 81 2.3e-12 PFAM
Pfam:TRM13 165 285 3.4e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197190
AA Change: K76E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143637
Gene: ENSMUSG00000033439
AA Change: K76E

DomainStartEndE-ValueType
Pfam:TRM13 116 179 5.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198454
SMART Domains Protein: ENSMUSP00000142410
Gene: ENSMUSG00000033439

DomainStartEndE-ValueType
Pfam:zf-TRM13_CCCH 16 46 1.9e-14 PFAM
Meta Mutation Damage Score 0.4796 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (112/114)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik C T 4: 35,226,033 probably benign Het
AA986860 T A 1: 130,742,403 S121T possibly damaging Het
Abcb9 A G 5: 124,078,804 V450A probably benign Het
Abcg1 A T 17: 31,114,261 R659S probably benign Het
Acad9 A T 3: 36,088,840 N508I possibly damaging Het
Acrbp T A 6: 125,060,918 C393S probably damaging Het
Adcy7 T C 8: 88,317,937 V486A probably benign Het
Adgrf1 G T 17: 43,310,493 L540F probably damaging Het
Ap5m1 T C 14: 49,078,828 I285T probably benign Het
Arhgap27 G T 11: 103,360,949 probably benign Het
Armc5 A T 7: 128,240,104 E198V possibly damaging Het
Atp8b5 A T 4: 43,365,955 K742M probably benign Het
Atp9a T G 2: 168,661,964 T603P possibly damaging Het
Bsn A G 9: 108,110,130 S2808P unknown Het
Catsper4 T C 4: 134,226,605 N81S probably damaging Het
Ccl17 C G 8: 94,810,500 T10S probably benign Het
Cdc123 A T 2: 5,844,892 V6D probably damaging Het
Cdca2 T C 14: 67,714,966 K14E possibly damaging Het
Cdh3 C A 8: 106,539,856 T302K probably damaging Het
Cdh9 A G 15: 16,850,959 M605V probably benign Het
Cdk4 A G 10: 127,064,911 E144G possibly damaging Het
Clasp1 C T 1: 118,543,271 A879V probably damaging Het
Cldn8 G A 16: 88,562,408 H210Y probably benign Het
Cntn5 T C 9: 9,970,531 D518G probably benign Het
Cog1 C T 11: 113,652,290 A208V probably damaging Het
Col4a2 T A 8: 11,431,337 H836Q possibly damaging Het
Copb1 T C 7: 114,248,976 D108G probably damaging Het
Csmd3 A T 15: 48,161,083 Y600* probably null Het
Cyb5r1 T A 1: 134,407,833 H164Q probably benign Het
Dkc1 A G X: 75,100,992 I215V probably benign Het
Enpep A G 3: 129,303,713 probably null Het
Fam71b T A 11: 46,404,813 M4K possibly damaging Het
Fbln7 A G 2: 128,894,886 Y311C probably damaging Het
Fign A C 2: 63,979,261 L555R probably damaging Het
Fkbp7 A T 2: 76,671,688 probably benign Het
Fmn2 T C 1: 174,503,162 S373P unknown Het
Frmd4b C T 6: 97,295,666 D868N possibly damaging Het
Gfpt2 A G 11: 49,823,737 N321S probably benign Het
Glmn G T 5: 107,561,075 T372K probably damaging Het
Gm26602 C T 10: 79,910,974 probably benign Het
Gm6797 A G X: 8,639,694 noncoding transcript Het
Gpat3 T A 5: 100,893,456 F383L probably damaging Het
Grrp1 A G 4: 134,251,436 S244P probably damaging Het
H2-M11 C T 17: 36,548,150 T194I possibly damaging Het
Hcn1 C T 13: 117,657,015 H268Y probably benign Het
Hectd4 G T 5: 121,325,251 C2345F possibly damaging Het
Htt A G 5: 34,820,080 D770G probably benign Het
Ints3 T C 3: 90,408,510 T316A possibly damaging Het
Ipo9 A G 1: 135,394,169 F608L probably benign Het
Irak1 A C X: 74,022,389 probably benign Het
Jam2 G A 16: 84,812,952 V151M probably damaging Het
Lag3 T A 6: 124,904,545 Q488L possibly damaging Het
Large2 A T 2: 92,367,558 L266Q probably benign Het
Lrp3 T G 7: 35,203,940 D327A probably damaging Het
Mamstr C A 7: 45,644,692 probably benign Het
Mettl14 G A 3: 123,369,414 probably benign Het
Miga1 A G 3: 152,322,475 V139A probably damaging Het
Mthfd2l A C 5: 90,948,911 R130S probably benign Het
Myo1b A G 1: 51,757,973 I970T possibly damaging Het
Nat10 C A 2: 103,732,170 W607L probably damaging Het
Nop56 A G 2: 130,278,273 T183A probably benign Het
Olfr1258 A G 2: 89,930,664 Y285C possibly damaging Het
Olfr239 A G 17: 33,199,393 H115R probably benign Het
Olfr291 T A 7: 84,856,904 Y178* probably null Het
Olfr464 T A 11: 87,914,310 M199L probably benign Het
Olfr592 A G 7: 103,187,102 Y167C probably benign Het
Olfr710 A T 7: 106,944,945 S19T probably benign Het
Pcdhb12 T C 18: 37,436,949 F383L probably damaging Het
Pde4dip C A 3: 97,695,005 D2252Y probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 probably benign Het
Plscr2 T G 9: 92,287,770 L91R probably benign Het
Plxnc1 T A 10: 94,794,444 Y1531F probably damaging Het
Ptprq A T 10: 107,685,182 F710I probably benign Het
Rad51ap2 A G 12: 11,456,551 E158G probably damaging Het
Rasip1 T A 7: 45,627,823 H18Q possibly damaging Het
Rcsd1 T A 1: 165,655,924 N166I probably damaging Het
Ripor1 T A 8: 105,617,785 I517K possibly damaging Het
Ryr2 T A 13: 11,824,369 H506L probably benign Het
Secisbp2l C T 2: 125,740,737 G933D possibly damaging Het
Sept14 T C 5: 129,693,026 D202G possibly damaging Het
Siglec1 A T 2: 131,073,411 L1420Q possibly damaging Het
Slc22a29 T A 19: 8,161,584 I505F possibly damaging Het
Sorcs1 T A 19: 50,182,669 Y927F probably benign Het
Spats2 T G 15: 99,180,722 M191R possibly damaging Het
Sycp1 C T 3: 102,922,462 probably null Het
T2 A G 17: 8,391,016 E99G possibly damaging Het
Taf3 G A 2: 10,048,564 probably benign Het
Tnfsf10 A T 3: 27,335,579 N263I probably damaging Het
Treml2 A T 17: 48,308,175 R229S probably benign Het
Ttc9 G T 12: 81,631,601 C66F probably damaging Het
Vmn2r63 C T 7: 42,928,120 M331I probably benign Het
Zfp353-ps T C 8: 42,082,214 noncoding transcript Het
Zfp932 A T 5: 110,009,894 H486L probably damaging Het
Other mutations in Trmt13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Trmt13 APN 3 116590235 nonsense probably null
IGL01516:Trmt13 APN 3 116589810 unclassified probably benign
IGL01732:Trmt13 APN 3 116581464 missense probably damaging 1.00
IGL01783:Trmt13 APN 3 116582912 nonsense probably null
IGL02470:Trmt13 APN 3 116590228 critical splice donor site probably null
IGL02492:Trmt13 APN 3 116582543 missense possibly damaging 0.53
IGL02531:Trmt13 APN 3 116592191 critical splice donor site probably null
IGL03156:Trmt13 APN 3 116585802 missense probably benign 0.00
R0394:Trmt13 UTSW 3 116582650 missense probably damaging 1.00
R0446:Trmt13 UTSW 3 116582626 missense probably damaging 1.00
R2211:Trmt13 UTSW 3 116594754 missense probably benign 0.00
R2942:Trmt13 UTSW 3 116585772 missense probably damaging 1.00
R3124:Trmt13 UTSW 3 116590244 missense probably benign 0.00
R3945:Trmt13 UTSW 3 116581518 missense probably damaging 1.00
R3946:Trmt13 UTSW 3 116581518 missense probably damaging 1.00
R4255:Trmt13 UTSW 3 116582688 nonsense probably null
R4520:Trmt13 UTSW 3 116581613 splice site probably null
R4609:Trmt13 UTSW 3 116594827 utr 5 prime probably benign
R4678:Trmt13 UTSW 3 116589755 missense probably damaging 1.00
R4703:Trmt13 UTSW 3 116594598 missense probably benign 0.00
R6526:Trmt13 UTSW 3 116592215 missense probably damaging 1.00
R7064:Trmt13 UTSW 3 116582697 missense probably damaging 1.00
R7079:Trmt13 UTSW 3 116582831 missense probably benign 0.00
R7308:Trmt13 UTSW 3 116594739 missense probably benign 0.09
R8347:Trmt13 UTSW 3 116582768 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTCCTTGGGTCATTAAGGGCATC -3'
(R):5'- GGAAGAAGCTGCTAAACTGCC -3'

Sequencing Primer
(F):5'- CATGCAATGCTGGATGGGAC -3'
(R):5'- GCTGCTAAACTGCCAAGGC -3'
Posted On2015-10-08