Incidental Mutation 'R2267:Ntmt1'
ID 242089
Institutional Source Beutler Lab
Gene Symbol Ntmt1
Ensembl Gene ENSMUSG00000026857
Gene Name N-terminal Xaa-Pro-Lys N-methyltransferase 1
Synonyms Mettl11a, 2610205E22Rik
MMRRC Submission 040267-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R2267 (G1)
Quality Score 211
Status Validated
Chromosome 2
Chromosomal Location 30697838-30713045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30710472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 58 (N58K)
Ref Sequence ENSEMBL: ENSMUSP00000123140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041726] [ENSMUST00000041830] [ENSMUST00000127566] [ENSMUST00000128303] [ENSMUST00000129712] [ENSMUST00000138889] [ENSMUST00000152374] [ENSMUST00000129628]
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 benign
Transcript: ENSMUST00000041830
AA Change: N58K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035303
Gene: ENSMUSG00000026857
AA Change: N58K

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 noncoding transcript
Transcript: ENSMUST00000126037
Predicted Effect probably benign
Transcript: ENSMUST00000127566
AA Change: N58K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142189
Gene: ENSMUSG00000026857
AA Change: N58K

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 118 6.7e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128303
AA Change: N58K

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123140
Gene: ENSMUSG00000026857
AA Change: N58K

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 78 1.8e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128509
Predicted Effect unknown
Transcript: ENSMUST00000143970
AA Change: N56K
Predicted Effect unknown
Transcript: ENSMUST00000129712
AA Change: T37K
SMART Domains Protein: ENSMUSP00000141222
Gene: ENSMUSG00000026857
AA Change: T37K

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 42 1.7e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000138889
AA Change: T37K
SMART Domains Protein: ENSMUSP00000141905
Gene: ENSMUSG00000026857
AA Change: T37K

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 42 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152374
AA Change: N58K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116760
Gene: ENSMUSG00000026857
AA Change: N58K

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 146 8.7e-65 PFAM
Pfam:Methyltransf_11 66 146 4.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147414
Predicted Effect probably benign
Transcript: ENSMUST00000129628
Meta Mutation Damage Score 0.1012 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (108/110)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Abca8b G A 11: 109,845,974 (GRCm39) T820M probably benign Het
Acot2 C T 12: 84,037,334 (GRCm39) A216V probably damaging Het
Agap2 T A 10: 126,918,297 (GRCm39) probably benign Het
Ak7 T C 12: 105,713,473 (GRCm39) V419A probably benign Het
Apmap A G 2: 150,430,821 (GRCm39) probably null Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Cachd1 T A 4: 100,806,266 (GRCm39) probably benign Het
Ccdc39 T A 3: 33,869,633 (GRCm39) E731D probably damaging Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dgke T A 11: 88,943,295 (GRCm39) E231D probably benign Het
Dhrs9 A G 2: 69,223,197 (GRCm39) probably benign Het
Dhx30 C T 9: 109,916,102 (GRCm39) G662R probably damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnah7b T A 1: 46,273,075 (GRCm39) M2401K probably damaging Het
Dnmt3a T A 12: 3,947,551 (GRCm39) probably null Het
Dst C T 1: 34,334,547 (GRCm39) T4874I probably damaging Het
Eef2kmt G A 16: 5,073,804 (GRCm39) probably benign Het
Ess2 T C 16: 17,727,859 (GRCm39) T107A probably damaging Het
Etfa A T 9: 55,394,015 (GRCm39) L212Q probably damaging Het
Exosc5 T C 7: 25,363,809 (GRCm39) L107P possibly damaging Het
Fam117b T C 1: 59,952,789 (GRCm39) L156P probably damaging Het
Fam186b T G 15: 99,183,524 (GRCm39) D40A probably damaging Het
Fga T C 3: 82,940,257 (GRCm39) L637P probably damaging Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gcc1 A G 6: 28,418,498 (GRCm39) S612P probably benign Het
Gjd3 C T 11: 98,873,227 (GRCm39) V206M probably damaging Het
Gpam A T 19: 55,061,142 (GRCm39) probably null Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Gphb5 C G 12: 75,459,720 (GRCm39) V92L probably benign Het
Grid2ip C T 5: 143,371,847 (GRCm39) P690L probably benign Het
Gsdmc T C 15: 63,648,647 (GRCm39) E429G probably benign Het
H2bc9 T C 13: 23,727,162 (GRCm39) K121E possibly damaging Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hmcn1 T C 1: 150,474,761 (GRCm39) S4709G probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Itih4 A G 14: 30,614,385 (GRCm39) D445G probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnt2 G A 1: 140,501,421 (GRCm39) probably null Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Klrb1 A T 6: 128,699,937 (GRCm39) S25T probably damaging Het
L3mbtl3 C T 10: 26,207,755 (GRCm39) W321* probably null Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lrrtm1 C A 6: 77,220,996 (GRCm39) A151E probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Mcc T C 18: 44,652,608 (GRCm39) D272G probably damaging Het
Mgst3 T A 1: 167,201,368 (GRCm39) T106S probably benign Het
Mink1 G A 11: 70,492,550 (GRCm39) probably null Het
Mlh3 G T 12: 85,307,585 (GRCm39) H1181N possibly damaging Het
Mmrn2 A G 14: 34,121,449 (GRCm39) K773R probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mro T C 18: 74,006,368 (GRCm39) I104T probably benign Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Nbeal1 T A 1: 60,370,037 (GRCm39) probably benign Het
Neurod2 C A 11: 98,218,582 (GRCm39) C194F probably damaging Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Nup205 T C 6: 35,218,284 (GRCm39) S1819P possibly damaging Het
Obsl1 T C 1: 75,482,342 (GRCm39) H176R probably damaging Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Or7g21 A T 9: 19,032,737 (GRCm39) H162L probably benign Het
Or8d2b A G 9: 38,789,359 (GRCm39) T296A probably benign Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Phka1 A G X: 101,584,716 (GRCm39) probably benign Het
Plxnd1 A G 6: 115,939,704 (GRCm39) V1425A probably benign Het
Ppp2ca G A 11: 52,008,913 (GRCm39) G138R probably damaging Het
Ptpn12 A T 5: 21,203,409 (GRCm39) N456K probably damaging Het
Scarb1 A T 5: 125,364,439 (GRCm39) S97T possibly damaging Het
Scyl1 C T 19: 5,811,749 (GRCm39) D440N possibly damaging Het
Sema5a C A 15: 32,575,065 (GRCm39) T391K probably benign Het
Sipa1l3 T A 7: 29,099,027 (GRCm39) N414I probably damaging Het
Skint6 T C 4: 112,700,019 (GRCm39) probably null Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spib T A 7: 44,178,348 (GRCm39) M141L probably benign Het
Srebf1 A G 11: 60,097,973 (GRCm39) S44P probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Taf15 T G 11: 83,388,088 (GRCm39) S200R probably damaging Het
Tanc1 G A 2: 59,667,563 (GRCm39) probably null Het
Tas2r134 A G 2: 51,518,249 (GRCm39) T243A probably benign Het
Tatdn1 A T 15: 58,777,601 (GRCm39) M218K probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbx1 T C 16: 18,400,744 (GRCm39) probably null Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tmprss11d A G 5: 86,521,208 (GRCm39) Y2H probably benign Het
Trps1 G A 15: 50,685,794 (GRCm39) R544C probably damaging Het
Ttc22 T C 4: 106,496,282 (GRCm39) V444A possibly damaging Het
Ttc28 A G 5: 111,373,869 (GRCm39) T1071A possibly damaging Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Ube2j1 T A 4: 33,049,943 (GRCm39) F257I possibly damaging Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Wwp1 T C 4: 19,638,618 (GRCm39) D575G probably damaging 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
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
R9236:Ntmt1 UTSW 2 30,712,407 (GRCm39) missense probably damaging 1.00
Z1176:Ntmt1 UTSW 2 30,712,440 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTTAGCTCCACGAAGCCC -3'
(R):5'- GAAGTAGTTCCTCACCCTCTTG -3'

Sequencing Primer
(F):5'- TAGCACTGTCACCCTGTGG -3'
(R):5'- GCCCTCTTCCCCCAGGTAG -3'
Posted On 2014-10-16