Mutagenetix > Incidental Mutation

Incidental Mutation 'R2266:Ntmt1'

242003

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

040266-MU

Accession Numbers

Essential gene?

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

Stock #

R2266 (G1)

Quality Score

225

Status

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bsn	T	A	9: 107,992,323 (GRCm39)	D1143V	probably damaging	Het
Cacna2d2	T	C	9: 107,390,479 (GRCm39)	V317A	probably damaging	Het
Cdh1	G	A	8: 107,388,635 (GRCm39)	V564I	probably benign	Het
Cep250	T	C	2: 155,818,090 (GRCm39)	V814A	probably benign	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
Cyb561d1	A	T	3: 108,106,720 (GRCm39)	H166Q	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dgkd	A	G	1: 87,855,540 (GRCm39)		probably benign	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
Ecpas	A	T	4: 58,830,332 (GRCm39)		probably null	Het
Eid1	A	G	2: 125,515,344 (GRCm39)	D78G	possibly damaging	Het
Emid1	T	A	11: 5,094,331 (GRCm39)	Q60L	probably damaging	Het
Fam135a	A	T	1: 24,067,878 (GRCm39)	V801E	probably benign	Het
Foxh1	A	G	15: 76,552,820 (GRCm39)	V298A	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Grid2ip	C	T	5: 143,371,847 (GRCm39)	P690L	probably benign	Het
H2bc9	T	C	13: 23,727,162 (GRCm39)	K121E	possibly damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	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
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klra10	A	G	6: 130,246,264 (GRCm39)	V237A	probably benign	Het
Klre1	A	G	6: 129,562,593 (GRCm39)	K206R	probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Med23	T	G	10: 24,750,499 (GRCm39)	S109A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (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
Naip6	A	G	13: 100,420,067 (GRCm39)	V1401A	possibly damaging	Het
Ncapg2	A	G	12: 116,393,296 (GRCm39)	E500G	probably damaging	Het
Nlrp12	T	C	7: 3,282,575 (GRCm39)	I775V	probably benign	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly 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
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Polq	C	A	16: 36,882,515 (GRCm39)	Q1560K	possibly damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Ptprm	A	T	17: 67,032,846 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,152,011 (GRCm39)	S183T	possibly damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rttn	A	G	18: 89,082,295 (GRCm39)	N1407S	probably benign	Het
Sec14l1	A	T	11: 117,047,314 (GRCm39)	H664L	probably damaging	Het
Slc10a7	G	A	8: 79,236,264 (GRCm39)	G21S	probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spesp1	A	T	9: 62,180,834 (GRCm39)	L25M	probably damaging	Het
St6galnac1	G	A	11: 116,658,673 (GRCm39)	Q264*	probably null	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tnfsf13b	A	T	8: 10,057,306 (GRCm39)	R125S	probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vmn1r38	G	T	6: 66,753,433 (GRCm39)	Q228K	probably benign	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
Xrn1	A	G	9: 95,888,765 (GRCm39)	D948G	possibly damaging	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zfp418	G	A	7: 7,185,807 (GRCm39)	R590K	probably benign	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
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