Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Ntmt1'

422907

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

042941-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30697838-30713045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30710660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 121 (D121G)

Ref Sequence

ENSEMBL: ENSMUSP00000035303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041726] [ENSMUST00000041830] [ENSMUST00000127566] [ENSMUST00000128303] [ENSMUST00000129628] [ENSMUST00000152374] [ENSMUST00000138889] [ENSMUST00000129712]

AlphaFold

Q8R2U4

Predicted Effect

probably benign
Transcript: ENSMUST00000041726

SMART Domains

Protein: ENSMUSP00000043462
Gene: ENSMUSG00000039483

Domain	Start	End	E-Value	Type
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: D121G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035303
Gene: ENSMUSG00000026857
AA Change: D121G

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000142189
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	118	6.7e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128303

SMART Domains

Protein: ENSMUSP00000123140
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	78	1.8e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128509

Predicted Effect

probably benign
Transcript: ENSMUST00000129628

Predicted Effect

unknown
Transcript: ENSMUST00000143970
AA Change: D119G

Predicted Effect

probably benign
Transcript: ENSMUST00000152374
AA Change: D121G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116760
Gene: ENSMUSG00000026857
AA Change: D121G

Domain	Start	End	E-Value	Type
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: ENSMUST00000138889

SMART Domains

Protein: ENSMUSP00000141905
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	42	1.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129712

SMART Domains

Protein: ENSMUSP00000141222
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	42	1.7e-7	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,132,963 (GRCm39)	I40T	probably benign	Het
Abca13	T	C	11: 9,227,035 (GRCm39)	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc1	A	G	2: 128,492,114 (GRCm39)		probably null	Het
Ap4e1	G	A	2: 126,879,784 (GRCm39)		probably null	Het
Apod	T	C	16: 31,129,909 (GRCm39)	T16A	probably benign	Het
Arrdc5	C	T	17: 56,607,138 (GRCm39)	V36M	probably damaging	Het
Bcan	A	G	3: 87,902,794 (GRCm39)	V328A	probably damaging	Het
Bche	A	G	3: 73,607,972 (GRCm39)	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,941,756 (GRCm39)	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,528,556 (GRCm39)	T555A	probably benign	Het
Ciita	C	T	16: 10,330,031 (GRCm39)	H769Y	probably damaging	Het
Clspn	A	G	4: 126,455,579 (GRCm39)	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,358,986 (GRCm39)	M562K	probably benign	Het
Cstdc1	G	T	2: 148,625,298 (GRCm39)	L77F	probably damaging	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cyp2a22	T	A	7: 26,635,858 (GRCm39)	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,669,410 (GRCm39)	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,544,297 (GRCm39)	I323N	probably damaging	Het
Fat4	A	G	3: 38,942,154 (GRCm39)	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Hectd4	T	C	5: 121,448,666 (GRCm39)	M338T	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Lactb2	A	T	1: 13,700,356 (GRCm39)	I225N	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mrps30	A	G	13: 118,523,698 (GRCm39)	S25P	probably benign	Het
Myg1	T	C	15: 102,246,259 (GRCm39)	V378A	probably benign	Het
Notch4	C	T	17: 34,806,097 (GRCm39)	T1731I	probably damaging	Het
Or10p21	C	A	10: 128,847,783 (GRCm39)	P210T	probably damaging	Het
Or5d39	A	T	2: 87,980,146 (GRCm39)	D72E	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pclo	A	G	5: 14,719,424 (GRCm39)	D1187G	unknown	Het
Pkd1	T	A	17: 24,784,047 (GRCm39)	Y198N	probably benign	Het
Plk4	T	A	3: 40,756,419 (GRCm39)	N83K	possibly damaging	Het
Prune2	A	T	19: 17,095,630 (GRCm39)	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,436,674 (GRCm39)	T118K	possibly damaging	Het
Rin3	G	A	12: 102,292,093 (GRCm39)	V97M	probably damaging	Het
Rock2	T	C	12: 17,015,655 (GRCm39)		probably null	Het
Slc34a1	A	G	13: 55,551,081 (GRCm39)	I289V	probably benign	Het
Slc34a1	T	C	13: 55,560,103 (GRCm39)	L443P	probably damaging	Het
Slco2a1	A	T	9: 102,947,462 (GRCm39)	I254F	probably damaging	Het
Spink11	T	C	18: 44,328,753 (GRCm39)	I32V	probably benign	Het
Spire1	T	C	18: 67,639,625 (GRCm39)	E296G	probably damaging	Het
Sun1	A	G	5: 139,220,498 (GRCm39)	N410D	probably damaging	Het
Syt14	T	A	1: 192,612,971 (GRCm39)	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,740,866 (GRCm39)	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,353,746 (GRCm39)		probably null	Het
Thbs1	A	T	2: 117,953,147 (GRCm39)	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,024,674 (GRCm39)	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,682,468 (GRCm39)	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,194,072 (GRCm39)	E700G	probably benign	Het
Zfp446	G	A	7: 12,711,984 (GRCm39)	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555 (GRCm39)	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,359,128 (GRCm39)	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,046,819 (GRCm39)	C552R	probably damaging	Het

Other mutations in Ntmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ACTTCCTGTGCCTTGGACTG -3'
(R):5'- TAAGATGGCCTCACTAGATAGCTG -3'

Sequencing Primer
(F):5'- CCTTGGACTGTGGCGCTG -3'
(R):5'- GGCCTCACTAGATAGCTGCTATTTAG -3'

Posted On

2016-08-04