Incidental Mutation 'R1493:Rnmt'
ID 165588
Institutional Source Beutler Lab
Gene Symbol Rnmt
Ensembl Gene ENSMUSG00000009535
Gene Name RNA (guanine-7-) methyltransferase
Synonyms 2610002P10Rik
MMRRC Submission 039544-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1493 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 68433426-68457923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 68446778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 268 (D268N)
Ref Sequence ENSEMBL: ENSMUSP00000025427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009679] [ENSMUST00000025427] [ENSMUST00000131075] [ENSMUST00000139111]
AlphaFold Q9D0L8
Predicted Effect probably damaging
Transcript: ENSMUST00000009679
AA Change: D268N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000009679
Gene: ENSMUSG00000009535
AA Change: D268N

DomainStartEndE-ValueType
Pfam:Pox_MCEL 125 464 7.5e-128 PFAM
Pfam:Methyltransf_31 184 352 1.2e-8 PFAM
Pfam:Methyltransf_11 191 305 3.8e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000025427
AA Change: D268N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025427
Gene: ENSMUSG00000009535
AA Change: D268N

DomainStartEndE-ValueType
Pfam:Pox_MCEL 125 317 2.8e-79 PFAM
Pfam:Methyltransf_23 163 349 8.2e-10 PFAM
Pfam:Methyltransf_31 184 375 4.3e-9 PFAM
Pfam:Methyltransf_18 186 308 1.4e-7 PFAM
Pfam:Methyltransf_11 191 305 5.1e-9 PFAM
Pfam:Pox_MCEL 313 409 2.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131075
SMART Domains Protein: ENSMUSP00000122741
Gene: ENSMUSG00000009535

DomainStartEndE-ValueType
Pfam:Pox_MCEL 125 205 3.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139111
SMART Domains Protein: ENSMUSP00000123500
Gene: ENSMUSG00000009535

DomainStartEndE-ValueType
Pfam:Pox_MCEL 125 240 1.2e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151833
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,767,544 (GRCm39) S14P probably damaging Het
Abca15 A T 7: 119,981,513 (GRCm39) D989V probably benign Het
Abcg8 T C 17: 85,004,107 (GRCm39) S472P probably damaging Het
Ablim2 T C 5: 35,966,605 (GRCm39) F178S probably damaging Het
Adprm A G 11: 66,932,702 (GRCm39) V69A possibly damaging Het
Ankrd27 C T 7: 35,307,790 (GRCm39) S343L probably benign Het
Arfgef3 A G 10: 18,506,627 (GRCm39) S833P probably damaging Het
Arhgap42 T G 9: 9,030,798 (GRCm39) E339D probably benign Het
Axdnd1 T A 1: 156,174,271 (GRCm39) M799L probably benign Het
Cars2 A T 8: 11,567,817 (GRCm39) probably null Het
Cd7 T C 11: 120,928,967 (GRCm39) T95A probably damaging Het
Cep290 A T 10: 100,398,043 (GRCm39) T2200S probably benign Het
Cep44 A G 8: 56,985,870 (GRCm39) S299P probably damaging Het
Cfap58 C T 19: 47,976,943 (GRCm39) H731Y probably damaging Het
Ehbp1 T A 11: 21,956,866 (GRCm39) E1204V probably damaging Het
Fgd5 A G 6: 91,964,612 (GRCm39) K124E probably benign Het
Folh1 T C 7: 86,410,938 (GRCm39) D268G probably damaging Het
Gm4559 A T 7: 141,828,050 (GRCm39) C17* probably null Het
Helz A G 11: 107,504,751 (GRCm39) I413V probably benign Het
Hexd A G 11: 121,112,093 (GRCm39) I438V probably benign Het
Hrh1 G A 6: 114,457,838 (GRCm39) G373D probably damaging Het
Hs3st5 G A 10: 36,708,870 (GRCm39) G135D probably damaging Het
Iqcf6 T C 9: 106,504,641 (GRCm39) Y102H probably benign Het
Kmt2a A T 9: 44,758,202 (GRCm39) S1124R probably damaging Het
Map3k5 A G 10: 19,904,859 (GRCm39) D387G probably damaging Het
Morc2a A G 11: 3,628,557 (GRCm39) N337D probably benign Het
Musk C T 4: 58,354,003 (GRCm39) A352V probably benign Het
Myef2l A G 3: 10,153,944 (GRCm39) K238E probably damaging Het
Nans G A 4: 46,500,761 (GRCm39) E218K probably damaging Het
Niban1 T A 1: 151,581,841 (GRCm39) V479D probably damaging Het
Ninl T G 2: 150,822,015 (GRCm39) D29A probably damaging Het
Nod1 A G 6: 54,921,041 (GRCm39) F426L probably damaging Het
Notch4 T A 17: 34,786,656 (GRCm39) C265* probably null Het
Nsd3 A G 8: 26,203,407 (GRCm39) D1307G probably benign Het
Or51h1 T C 7: 102,308,220 (GRCm39) L64P probably damaging Het
Or52e18 T A 7: 104,609,709 (GRCm39) T77S probably damaging Het
Orai3 G A 7: 127,373,077 (GRCm39) V193M possibly damaging Het
Prkag1 T C 15: 98,711,551 (GRCm39) Y271C probably benign Het
Rfc4 T C 16: 22,936,758 (GRCm39) I116V probably damaging Het
Ric1 T C 19: 29,557,249 (GRCm39) Y445H probably benign Het
Rsph1 C T 17: 31,484,873 (GRCm39) G139D probably damaging Het
Sez6l2 C A 7: 126,560,984 (GRCm39) P483Q probably damaging Het
Sgo2b A G 8: 64,379,889 (GRCm39) L981P probably damaging Het
Shmt2 A G 10: 127,354,812 (GRCm39) probably null Het
Sorbs3 T C 14: 70,430,076 (GRCm39) T353A possibly damaging Het
Stk25 T C 1: 93,553,322 (GRCm39) T260A probably benign Het
Tasor A G 14: 27,171,926 (GRCm39) S425G probably damaging Het
Thap12 A G 7: 98,364,645 (GRCm39) H271R probably benign Het
Tmprss13 A G 9: 45,247,405 (GRCm39) T256A probably benign Het
Tpo A T 12: 30,181,808 (GRCm39) I29N possibly damaging Het
Trpc2 A T 7: 101,739,783 (GRCm39) N569I probably damaging Het
Unc13c T C 9: 73,546,350 (GRCm39) T1607A probably benign Het
Vldlr A G 19: 27,218,691 (GRCm39) N514S probably benign Het
Vps18 A G 2: 119,127,613 (GRCm39) Y812C probably damaging Het
Zfp692 A T 11: 58,204,866 (GRCm39) I409F probably damaging Het
Zfp735 G A 11: 73,601,305 (GRCm39) C83Y possibly damaging Het
Zic1 A G 9: 91,246,809 (GRCm39) S88P probably damaging Het
Other mutations in Rnmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02231:Rnmt APN 18 68,447,152 (GRCm39) nonsense probably null
acre UTSW 18 68,447,105 (GRCm39) missense probably damaging 1.00
talenti UTSW 18 68,452,285 (GRCm39) missense probably damaging 0.98
IGL03098:Rnmt UTSW 18 68,439,073 (GRCm39) missense probably damaging 0.98
R0137:Rnmt UTSW 18 68,446,771 (GRCm39) missense probably benign 0.00
R0712:Rnmt UTSW 18 68,440,859 (GRCm39) critical splice donor site probably null
R1541:Rnmt UTSW 18 68,440,853 (GRCm39) missense probably damaging 1.00
R1606:Rnmt UTSW 18 68,444,724 (GRCm39) missense possibly damaging 0.83
R2224:Rnmt UTSW 18 68,438,854 (GRCm39) start gained probably benign
R3114:Rnmt UTSW 18 68,447,079 (GRCm39) missense probably benign 0.13
R3115:Rnmt UTSW 18 68,447,079 (GRCm39) missense probably benign 0.13
R4424:Rnmt UTSW 18 68,444,742 (GRCm39) missense probably null 0.07
R4705:Rnmt UTSW 18 68,447,196 (GRCm39) missense probably damaging 1.00
R4722:Rnmt UTSW 18 68,438,952 (GRCm39) missense probably damaging 0.98
R4732:Rnmt UTSW 18 68,451,031 (GRCm39) intron probably benign
R5173:Rnmt UTSW 18 68,454,430 (GRCm39) utr 3 prime probably benign
R5523:Rnmt UTSW 18 68,446,773 (GRCm39) missense probably benign
R5579:Rnmt UTSW 18 68,439,186 (GRCm39) missense possibly damaging 0.93
R5966:Rnmt UTSW 18 68,444,689 (GRCm39) missense probably benign 0.16
R6322:Rnmt UTSW 18 68,452,285 (GRCm39) missense probably damaging 0.98
R7149:Rnmt UTSW 18 68,452,222 (GRCm39) missense probably damaging 1.00
R7529:Rnmt UTSW 18 68,444,726 (GRCm39) missense probably benign 0.41
R7620:Rnmt UTSW 18 68,447,105 (GRCm39) missense probably damaging 1.00
R8071:Rnmt UTSW 18 68,440,723 (GRCm39) missense probably benign 0.03
R9093:Rnmt UTSW 18 68,451,146 (GRCm39) missense probably benign 0.03
R9436:Rnmt UTSW 18 68,442,410 (GRCm39) missense probably damaging 0.97
Z1088:Rnmt UTSW 18 68,440,745 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GTCAGGGAACAGCTACTTTAAGAGCC -3'
(R):5'- TATCCCCTACCGTGATCAAAGCCG -3'

Sequencing Primer
(F):5'- CAGCTACTTTAAGAGCCCTAAATTC -3'
(R):5'- GCAGGTCAAGACATTCTTACTCAG -3'
Posted On 2014-03-28