Mutagenetix > Incidental Mutation

Incidental Mutation 'R2859:Ntmt1'

252618

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

040449-MU

Accession Numbers

Essential gene?

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

Stock #

R2859 (G1)

Quality Score

106

Status

Validated

Chromosome

Chromosomal Location

30697838-30713045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30712377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 140 (H140R)

Ref Sequence

ENSEMBL: ENSMUSP00000116760 (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 damaging
Transcript: ENSMUST00000041830
AA Change: H140R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035303
Gene: ENSMUSG00000026857
AA Change: H140R

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

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

probably benign
Transcript: ENSMUST00000129628

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

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 damaging
Transcript: ENSMUST00000152374
AA Change: H140R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116760
Gene: ENSMUSG00000026857
AA Change: H140R

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: ENSMUST00000143970

Meta Mutation Damage Score

0.8580

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,500,288 (GRCm39)	Y1301C	possibly damaging	Het
Amfr	A	T	8: 94,731,842 (GRCm39)	N11K	probably damaging	Het
Cadm3	A	G	1: 173,174,112 (GRCm39)	S34P	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh23	C	T	10: 60,218,432 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,173,442 (GRCm39)	I249F	probably damaging	Het
Cuzd1	C	T	7: 130,917,863 (GRCm39)	V246M	probably damaging	Het
Ehd2	A	T	7: 15,698,054 (GRCm39)	V61E	probably damaging	Het
Fibin	C	T	2: 110,192,542 (GRCm39)	R200H	probably damaging	Het
Fmo9	A	C	1: 166,501,236 (GRCm39)	F237C	probably damaging	Het
Garin3	T	C	11: 46,296,039 (GRCm39)	I137T	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Iqgap3	C	A	3: 88,014,903 (GRCm39)	S873*	probably null	Het
Ism2	T	C	12: 87,346,437 (GRCm39)	M15V	unknown	Het
Itk	T	G	11: 46,235,662 (GRCm39)		probably benign	Het
Mastl	C	A	2: 23,029,979 (GRCm39)	C249F	probably damaging	Het
Mink1	T	C	11: 70,503,334 (GRCm39)	V1143A	probably damaging	Het
Mrgprb4	T	A	7: 47,848,084 (GRCm39)	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,335,699 (GRCm39)	Y258H	probably damaging	Het
Or1j12	T	C	2: 36,343,142 (GRCm39)	S182P	probably benign	Het
Or3a10	C	T	11: 73,935,653 (GRCm39)	G149D	possibly damaging	Het
Or3a1b	T	C	11: 74,012,808 (GRCm39)	I231T	probably damaging	Het
Or9e1	T	A	11: 58,732,708 (GRCm39)	V256E	probably benign	Het
Parm1	A	G	5: 91,742,165 (GRCm39)	T178A	possibly damaging	Het
Patl1	T	C	19: 11,901,195 (GRCm39)	F282L	probably damaging	Het
Phospho2	T	C	2: 69,626,195 (GRCm39)	V117A	possibly damaging	Het
Ppp4r3a	T	C	12: 101,008,906 (GRCm39)		probably null	Het
Pramel29	A	G	4: 143,936,192 (GRCm39)	S23P	probably benign	Het
Rbm17	A	G	2: 11,595,515 (GRCm39)	F230S	possibly damaging	Het
Robo3	C	A	9: 37,339,400 (GRCm39)	G196*	probably null	Het
Samhd1	A	G	2: 156,948,149 (GRCm39)		probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Thbs4	A	G	13: 92,927,216 (GRCm39)	F91S	probably benign	Het
Trim34b	A	T	7: 103,985,439 (GRCm39)	N358I	probably benign	Het
Ulk1	A	G	5: 110,942,495 (GRCm39)	L255P	probably damaging	Het
Vmn2r104	T	A	17: 20,268,455 (GRCm39)	I5F	possibly damaging	Het
Vrk2	C	A	11: 26,433,324 (GRCm39)	S286I	possibly damaging	Het
Zswim3	T	C	2: 164,662,309 (GRCm39)	L263P	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
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'- GGCACCCAGTCAGCTTAAATC -3'
(R):5'- AGACATGGTAGATCTCATCTGGC -3'

Sequencing Primer
(F):5'- AGTCAGCTTAAATCCCAGCTTCTG -3'
(R):5'- GTAGATCTCATCTGGCAGGTTCTC -3'

Posted On

2014-12-04