Mutagenetix > Incidental Mutation

Incidental Mutation 'R2265:Ntmt1'

244041

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

040265-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.396) question?

Stock #

R2265 (G1)

Quality Score

140

Status

Not validated

Chromosome

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] [ENSMUST00000129628] [ENSMUST00000129712] [ENSMUST00000138889] [ENSMUST00000152374]

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 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

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
AA Change: N58K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000142189
Gene: ENSMUSG00000026857
AA Change: N58K

Domain	Start	End	E-Value	Type
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

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: N56K

Predicted Effect

unknown
Transcript: ENSMUST00000129712
AA Change: T37K

SMART Domains

Protein: ENSMUSP00000141222
Gene: ENSMUSG00000026857
AA Change: T37K

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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

Meta Mutation Damage Score

0.1012

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	C	1: 12,042,328 (GRCm39)		probably null	Het
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Adam24	T	A	8: 41,133,110 (GRCm39)	S193T	possibly damaging	Het
Adra2b	T	C	2: 127,205,791 (GRCm39)	S103P	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Alg11	T	A	8: 22,555,630 (GRCm39)	V255E	probably benign	Het
Aox1	C	A	1: 58,120,679 (GRCm39)	D857E	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,484 (GRCm39)	T242A	probably benign	Het
Cdca7	T	C	2: 72,312,834 (GRCm39)	L190P	probably benign	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Cep41	T	A	6: 30,660,915 (GRCm39)	I126F	possibly damaging	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Cops3	T	C	11: 59,718,716 (GRCm39)	T193A	probably benign	Het
Dbr1	G	A	9: 99,461,463 (GRCm39)	V153M	probably damaging	Het
Ddx4	A	G	13: 112,757,810 (GRCm39)	Y290H	probably benign	Het
Dgkb	T	A	12: 38,240,107 (GRCm39)	S461R	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Exosc1	A	G	19: 41,919,857 (GRCm39)	S54P	probably damaging	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxo1	T	C	3: 52,253,333 (GRCm39)	S499P	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hspa2	T	G	12: 76,452,962 (GRCm39)	I552S	probably benign	Het
Imp4	T	A	1: 34,482,928 (GRCm39)	I173N	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Kcnh6	G	A	11: 105,924,643 (GRCm39)	R816Q	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnip3	G	T	2: 127,306,981 (GRCm39)	A173D	probably benign	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lilrb4a	T	A	10: 51,367,633 (GRCm39)	Y58*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,124 (GRCm39)	N185D	probably benign	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Mycbp2	T	C	14: 103,500,185 (GRCm39)	D937G	probably benign	Het
Myo18b	A	G	5: 112,930,539 (GRCm39)	M1799T	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or2m12	A	G	16: 19,105,305 (GRCm39)	Y63H	probably damaging	Het
Or4f54	A	G	2: 111,123,524 (GRCm39)	T304A	probably benign	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Or52n20	T	C	7: 104,320,067 (GRCm39)	F53L	probably benign	Het
Or8k28	T	C	2: 86,286,558 (GRCm39)	Y19C	possibly damaging	Het
Ovch2	A	T	7: 107,383,782 (GRCm39)	M521K	probably damaging	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
Pcdhb19	A	T	18: 37,630,736 (GRCm39)	H177L	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Pjvk	T	G	2: 76,487,797 (GRCm39)	S230A	possibly damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Rad9b	T	C	5: 122,489,405 (GRCm39)	Y41C	probably damaging	Het
Ranbp3l	A	T	15: 9,057,194 (GRCm39)	I286F	probably damaging	Het
Rtel1	T	A	2: 180,996,161 (GRCm39)	V739D	probably damaging	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,938,788 (GRCm39)	C389S	possibly damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tas2r117	T	A	6: 132,780,188 (GRCm39)	C109S	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Ttc21a	G	T	9: 119,788,074 (GRCm39)	C833F	possibly damaging	Het
Vash2	T	C	1: 190,682,410 (GRCm39)	N347D	probably damaging	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Zfp616	T	C	11: 73,976,289 (GRCm39)	Y853H	possibly 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
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
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'- GCAGAAGTAGTTCCTCACCC -3'

Sequencing Primer
(F):5'- TAGCACTGTCACCCTGTGG -3'
(R):5'- GCAGAAGTAGTTCCTCACCCTCTTG -3'

Posted On

2014-10-16