Incidental Mutation 'IGL01565:Mettl2'
ID90970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl2
Ensembl Gene ENSMUSG00000020691
Gene Namemethyltransferase like 2
SynonymsD11Ertd768e, 2810438F06Rik, C130031G21Rik, PSENIP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL01565
Quality Score
Status
Chromosome11
Chromosomal Location105126425-105140394 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105126538 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 14 (D14E)
Ref Sequence ENSEMBL: ENSMUSP00000021030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021030]
Predicted Effect probably benign
Transcript: ENSMUST00000021030
AA Change: D14E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021030
Gene: ENSMUSG00000020691
AA Change: D14E

DomainStartEndE-ValueType
Pfam:Methyltransf_23 150 337 1.2e-18 PFAM
Pfam:Ubie_methyltran 164 300 1.2e-8 PFAM
Pfam:MTS 166 291 4.3e-6 PFAM
Pfam:Methyltransf_31 171 331 1.6e-14 PFAM
Pfam:Methyltransf_18 173 286 2e-7 PFAM
Pfam:Methyltransf_25 177 279 7.6e-12 PFAM
Pfam:Methyltransf_12 178 281 1.1e-18 PFAM
Pfam:Methyltransf_11 178 283 5.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136214
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced 3-methylcytidine (m3C) methyltransferases modification of tRNA. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,603,360 T36A probably damaging Het
Ankrd35 A G 3: 96,684,785 M796V probably damaging Het
Brpf1 A T 6: 113,316,650 Q560L probably damaging Het
Dbil5 T G 11: 76,218,265 probably benign Het
Dnah9 T C 11: 66,033,829 K2200E possibly damaging Het
Gtf2i T C 5: 134,255,913 I471V probably damaging Het
Has3 T A 8: 106,874,445 W180R probably benign Het
Lrfn1 T C 7: 28,458,769 C38R probably damaging Het
Lrsam1 C T 2: 32,936,495 A455T probably damaging Het
Mocs1 G A 17: 49,452,320 R364Q probably benign Het
Ndst2 A T 14: 20,728,206 V435E probably damaging Het
Pi4ka A T 16: 17,389,442 probably benign Het
Pigr A C 1: 130,844,474 D143A possibly damaging Het
Polq A C 16: 37,013,113 N56T probably benign Het
Prmt7 T G 8: 106,250,409 D584E probably damaging Het
R3hdm1 A T 1: 128,186,816 Q511H probably damaging Het
Rbm33 T C 5: 28,391,079 probably benign Het
Rdh19 T G 10: 127,859,595 M226R probably benign Het
Rock2 G A 12: 16,953,317 D386N possibly damaging Het
Slc7a2 A G 8: 40,899,238 T96A possibly damaging Het
Spata2 A G 2: 167,484,294 S202P probably damaging Het
Swsap1 T A 9: 21,957,228 D265E possibly damaging Het
Tdrd3 A T 14: 87,472,232 I117L probably benign Het
Ticrr A G 7: 79,694,548 D1387G probably benign Het
Tnfaip6 A G 2: 52,055,834 S231G probably damaging Het
Trim50 T A 5: 135,367,501 D434E probably benign Het
Tyw5 T C 1: 57,394,081 Y105C probably damaging Het
Usp50 G T 2: 126,777,968 C141* probably null Het
Zfp647 A T 15: 76,911,670 C263* probably null Het
Other mutations in Mettl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Mettl2 APN 11 105126522 missense probably benign 0.00
R0071:Mettl2 UTSW 11 105131642 splice site probably benign
R0726:Mettl2 UTSW 11 105126844 missense probably benign
R0990:Mettl2 UTSW 11 105137744 nonsense probably null
R1318:Mettl2 UTSW 11 105137771 nonsense probably null
R1699:Mettl2 UTSW 11 105139718 missense probably benign 0.02
R1885:Mettl2 UTSW 11 105131620 missense possibly damaging 0.94
R1907:Mettl2 UTSW 11 105126840 missense probably benign 0.00
R3706:Mettl2 UTSW 11 105139726 missense probably benign
R4396:Mettl2 UTSW 11 105126778 missense probably damaging 1.00
R4774:Mettl2 UTSW 11 105126610 splice site probably null
R4876:Mettl2 UTSW 11 105129068 missense probably damaging 0.99
R4955:Mettl2 UTSW 11 105137779 missense possibly damaging 0.92
R6463:Mettl2 UTSW 11 105132581 critical splice donor site probably null
R7058:Mettl2 UTSW 11 105128893 missense probably benign
R7387:Mettl2 UTSW 11 105132538 missense probably benign 0.42
X0025:Mettl2 UTSW 11 105139713 missense probably benign 0.01
Posted On2013-12-09