Incidental Mutation 'R9236:Ntmt1'
ID 700462
Institutional Source Beutler Lab
Gene Symbol Ntmt1
Ensembl Gene ENSMUSG00000026857
Gene Name N-terminal Xaa-Pro-Lys N-methyltransferase 1
Synonyms Mettl11a, 2610205E22Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R9236 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 30697838-30713045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30712407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 150 (L150Q)
Ref Sequence ENSEMBL: ENSMUSP00000035303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041726] [ENSMUST00000041830] [ENSMUST00000127566] [ENSMUST00000128303] [ENSMUST00000129628] [ENSMUST00000129712] [ENSMUST00000138889] [ENSMUST00000152374]
AlphaFold Q8R2U4
Predicted Effect probably benign
Transcript: ENSMUST00000041726
SMART Domains Protein: ENSMUSP00000043462
Gene: ENSMUSG00000039483

DomainStartEndE-ValueType
Blast:ANK 31 63 3e-7 BLAST
ANK 66 95 1.96e3 SMART
ANK 100 129 1.91e-6 SMART
ANK 134 164 1e0 SMART
ANK 168 203 4.3e0 SMART
Blast:ANK 256 287 1e-11 BLAST
SOCS_box 370 410 1.72e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000041830
AA Change: L150Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035303
Gene: ENSMUSG00000026857
AA Change: L150Q

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 223 2.3e-99 PFAM
Pfam:Ubie_methyltran 36 178 2.8e-7 PFAM
Pfam:Methyltransf_2 59 190 3.6e-8 PFAM
Pfam:Methyltransf_18 61 168 1.5e-9 PFAM
Pfam:Methyltransf_25 65 161 2.4e-8 PFAM
Pfam:Methyltransf_12 66 163 5.2e-11 PFAM
Pfam:Methyltransf_11 66 165 4.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127566
SMART Domains Protein: ENSMUSP00000142189
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 118 6.7e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128303
SMART Domains Protein: ENSMUSP00000123140
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 78 1.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129628
Predicted Effect probably benign
Transcript: ENSMUST00000129712
SMART Domains Protein: ENSMUSP00000141222
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 42 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138889
SMART Domains Protein: ENSMUSP00000141905
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 42 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143970
Predicted Effect probably benign
Transcript: ENSMUST00000152374
SMART Domains Protein: ENSMUSP00000116760
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 146 8.7e-65 PFAM
Pfam:Methyltransf_11 66 146 4.7e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N-methylates other protein targets such as SET (MIM 600960) and RB (MIM 180200).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality and premature death associated with premature aging, decreased body size and weight, skin thinning, liver degeneration, increased sensitivity to oxidative stress and female infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,626,712 (GRCm39) T1514A probably benign Het
Abcb1b G A 5: 8,874,893 (GRCm39) probably null Het
Adam12 A C 7: 133,614,022 (GRCm39) L109R probably benign Het
Adgre1 T A 17: 57,709,782 (GRCm39) Y146* probably null Het
Ap5m1 G T 14: 49,311,064 (GRCm39) V45L probably benign Het
Bpifa5 A T 2: 154,006,150 (GRCm39) I113F probably damaging Het
Cacna1h A T 17: 25,600,424 (GRCm39) M1639K probably damaging Het
Celsr1 T C 15: 85,915,051 (GRCm39) E974G probably damaging Het
Cfap251 T C 5: 123,428,125 (GRCm39) C980R probably damaging Het
Cggbp1 C T 16: 64,676,318 (GRCm39) A128V probably benign Het
Col7a1 G T 9: 108,789,684 (GRCm39) R898L unknown Het
Cycs C T 6: 50,543,507 (GRCm39) probably benign Het
Cyp2c54 A T 19: 40,060,938 (GRCm39) Y68* probably null Het
Dock9 T C 14: 121,876,970 (GRCm39) D467G probably damaging Het
Eif2s1 A T 12: 78,921,343 (GRCm39) I83L probably benign Het
Eppk1 T A 15: 75,990,510 (GRCm39) R2124* probably null Het
Fkbp15 G C 4: 62,254,664 (GRCm39) L279V probably damaging Het
Fndc1 A G 17: 7,992,460 (GRCm39) V412A unknown Het
Gfap A G 11: 102,786,327 (GRCm39) I194T probably damaging Het
Gpatch2 C A 1: 186,965,977 (GRCm39) T350K probably benign Het
Hecw1 C T 13: 14,490,643 (GRCm39) G783D possibly damaging Het
Hipk1 A T 3: 103,671,789 (GRCm39) W437R probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hr C T 14: 70,809,396 (GRCm39) P1136S probably damaging Het
Il1rl2 T A 1: 40,368,221 (GRCm39) N130K probably damaging Het
Kif13b A G 14: 64,982,383 (GRCm39) I532V probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lrba T A 3: 86,261,066 (GRCm39) I1474K probably benign Het
Luc7l3 T C 11: 94,186,772 (GRCm39) E371G unknown Het
Myo5b T A 18: 74,853,934 (GRCm39) D1184E probably benign Het
N4bp2l2 T C 5: 150,585,734 (GRCm39) H82R probably benign Het
N4bp2l2 A G 5: 150,585,479 (GRCm39) M167T probably benign Het
Ndufaf1 T C 2: 119,490,712 (GRCm39) E118G possibly damaging Het
Nedd9 A T 13: 41,492,153 (GRCm39) V119E possibly damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Or5b99 G T 19: 12,976,763 (GRCm39) V138F probably damaging Het
Or7g21 A G 9: 19,033,206 (GRCm39) *315W probably null Het
Or8b40 A T 9: 38,027,496 (GRCm39) M140L possibly damaging Het
Or8h7 C T 2: 86,720,622 (GRCm39) S299N probably benign Het
Osbpl8 A G 10: 111,106,496 (GRCm39) N301S probably benign Het
Pgm5 A T 19: 24,839,003 (GRCm39) S51T probably benign Het
Pitx2 A G 3: 129,009,345 (GRCm39) K88R probably damaging Het
Pnma8b A T 7: 16,679,964 (GRCm39) D316V unknown Het
Pop1 C A 15: 34,499,558 (GRCm39) P41Q probably damaging Het
Rcor1 A C 12: 111,070,080 (GRCm39) K292N Het
Rps6kc1 C T 1: 190,532,200 (GRCm39) D601N probably damaging Het
Sema7a A T 9: 57,862,408 (GRCm39) I204F probably damaging Het
Slc29a4 T C 5: 142,698,702 (GRCm39) L121P probably damaging Het
Slc4a2 A G 5: 24,644,308 (GRCm39) T983A probably benign Het
Slc4a4 C T 5: 89,194,158 (GRCm39) R213* probably null Het
Tbc1d2 G A 4: 46,609,029 (GRCm39) T736I probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Trip12 A C 1: 84,703,550 (GRCm39) L1895R probably damaging Het
Ttc41 A T 10: 86,612,594 (GRCm39) Y1289F probably damaging Het
Vmn1r70 G A 7: 10,368,016 (GRCm39) C168Y probably damaging Het
Vtcn1 C A 3: 100,795,533 (GRCm39) R167S probably benign Het
Zfp369 G A 13: 65,445,010 (GRCm39) V718I probably benign Het
Zfp608 T C 18: 55,032,354 (GRCm39) T529A probably benign Het
Zfp936 A G 7: 42,836,922 (GRCm39) N46D probably benign Het
Zfp974 A G 7: 27,610,342 (GRCm39) V461A possibly damaging Het
Zgrf1 A G 3: 127,378,312 (GRCm39) N1024S probably benign Het
Other mutations in Ntmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
puny UTSW 2 30,712,377 (GRCm39) missense probably damaging 1.00
R2265:Ntmt1 UTSW 2 30,710,472 (GRCm39) missense probably benign 0.24
R2266:Ntmt1 UTSW 2 30,710,472 (GRCm39) missense probably benign 0.24
R2267:Ntmt1 UTSW 2 30,710,472 (GRCm39) missense probably benign 0.24
R2858:Ntmt1 UTSW 2 30,712,377 (GRCm39) missense probably damaging 1.00
R2859:Ntmt1 UTSW 2 30,712,377 (GRCm39) missense probably damaging 1.00
R5363:Ntmt1 UTSW 2 30,710,660 (GRCm39) missense probably damaging 0.97
R8883:Ntmt1 UTSW 2 30,712,466 (GRCm39) missense probably benign 0.01
Z1176:Ntmt1 UTSW 2 30,712,440 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATCCCAGCTTCTGACTCTGC -3'
(R):5'- CTTCATCTCAGGGCAAAGCTG -3'

Sequencing Primer
(F):5'- CTTTTGTGTGGATAACGTCAGAACTC -3'
(R):5'- TTCATCTCAGGGCAAAGCTGTAGAC -3'
Posted On 2022-02-07