Incidental Mutation 'IGL02597:Ntmt2'
ID 299892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntmt2
Ensembl Gene ENSMUSG00000040113
Gene Name N-terminal Xaa-Pro-Lys N-methyltransferase 2
Synonyms Mettl11b, LOC240879
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL02597
Quality Score
Status
Chromosome 1
Chromosomal Location 163529825-163552801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163544656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 109 (V109A)
Ref Sequence ENSEMBL: ENSMUSP00000124211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159679] [ENSMUST00000160495]
AlphaFold B2RXM4
Predicted Effect probably benign
Transcript: ENSMUST00000159679
AA Change: V109A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124211
Gene: ENSMUSG00000040113
AA Change: V109A

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 64 278 5.7e-74 PFAM
Pfam:Methyltransf_11 121 220 4.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160495
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,469,665 (GRCm39) Y862C probably damaging Het
Anapc1 T C 2: 128,465,851 (GRCm39) K1648E probably benign Het
Arhgef10 C T 8: 14,980,198 (GRCm39) A146V probably benign Het
Atp7a A T X: 105,113,494 (GRCm39) N34I probably benign Het
Casq2 A G 3: 102,033,953 (GRCm39) Y232C probably damaging Het
Cdan1 A T 2: 120,555,720 (GRCm39) N738K probably benign Het
Cdh24 A G 14: 54,870,972 (GRCm39) V132A possibly damaging Het
Chd5 C A 4: 152,456,169 (GRCm39) T946K probably damaging Het
Clip4 T C 17: 72,156,965 (GRCm39) probably benign Het
Copz2 T C 11: 96,748,425 (GRCm39) probably benign Het
Cyp2c39 C A 19: 39,549,331 (GRCm39) S283* probably null Het
Dlec1 A T 9: 118,963,604 (GRCm39) S973C probably damaging Het
Far1 A T 7: 113,150,463 (GRCm39) T264S probably benign Het
Iqgap1 A G 7: 80,373,633 (GRCm39) L1452P probably damaging Het
Irx5 A C 8: 93,087,400 (GRCm39) N444T possibly damaging Het
Kcnip2 A G 19: 45,784,712 (GRCm39) probably benign Het
Kmt2d A T 15: 98,761,712 (GRCm39) M546K unknown Het
Lrrc37a A G 11: 103,395,113 (GRCm39) L104S probably benign Het
Med12 T C X: 100,328,538 (GRCm39) L1143P probably damaging Het
Mtcl1 T C 17: 66,645,016 (GRCm39) H1477R probably benign Het
Nkap T A X: 36,411,437 (GRCm39) probably benign Het
Or10a2 A T 7: 106,673,646 (GRCm39) T204S possibly damaging Het
Osbpl6 C T 2: 76,386,318 (GRCm39) Q214* probably null Het
Pex1 C T 5: 3,685,865 (GRCm39) T1202I possibly damaging Het
Prrc2b A T 2: 32,109,625 (GRCm39) N1066I probably damaging Het
Psmg1 T C 16: 95,788,497 (GRCm39) E152G probably damaging Het
Scn10a A G 9: 119,439,189 (GRCm39) I1560T probably damaging Het
Shd A G 17: 56,280,987 (GRCm39) E221G possibly damaging Het
Slc39a4 T C 15: 76,497,824 (GRCm39) T478A probably benign Het
Snx2 A G 18: 53,343,444 (GRCm39) I281V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem161a A T 8: 70,634,693 (GRCm39) R297S probably damaging Het
Tns1 A G 1: 74,025,032 (GRCm39) probably null Het
Ugt2b36 G A 5: 87,228,783 (GRCm39) T420M probably damaging Het
Wdfy4 G A 14: 32,812,818 (GRCm39) R1652* probably null Het
Zap70 T A 1: 36,811,001 (GRCm39) Y178* probably null Het
Zdhhc3 A G 9: 122,929,456 (GRCm39) F60L probably damaging Het
Other mutations in Ntmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Ntmt2 APN 1 163,552,572 (GRCm39) missense probably damaging 1.00
IGL01973:Ntmt2 APN 1 163,544,689 (GRCm39) missense probably benign 0.00
IGL02418:Ntmt2 APN 1 163,530,725 (GRCm39) missense probably damaging 1.00
IGL03060:Ntmt2 APN 1 163,544,692 (GRCm39) missense probably damaging 1.00
IGL03162:Ntmt2 APN 1 163,530,783 (GRCm39) missense probably damaging 0.98
R4569:Ntmt2 UTSW 1 163,530,586 (GRCm39) makesense probably null
R4618:Ntmt2 UTSW 1 163,552,597 (GRCm39) missense probably damaging 1.00
R4888:Ntmt2 UTSW 1 163,530,633 (GRCm39) missense probably benign 0.11
R5165:Ntmt2 UTSW 1 163,550,092 (GRCm39) missense probably benign 0.01
R6353:Ntmt2 UTSW 1 163,531,680 (GRCm39) missense possibly damaging 0.94
R6503:Ntmt2 UTSW 1 163,531,715 (GRCm39) missense probably damaging 1.00
R7726:Ntmt2 UTSW 1 163,530,753 (GRCm39) missense probably benign 0.27
R8092:Ntmt2 UTSW 1 163,544,819 (GRCm39) missense probably damaging 1.00
R8374:Ntmt2 UTSW 1 163,530,617 (GRCm39) missense probably damaging 1.00
R8751:Ntmt2 UTSW 1 163,544,738 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16