Mutagenetix > Incidental Mutation

Incidental Mutation 'R7785:Nnmt'

599501

Institutional Source

Beutler Lab

Gene Symbol

Nnmt

Ensembl Gene

ENSMUSG00000032271

Gene Name

nicotinamide N-methyltransferase

Synonyms

MMRRC Submission

045841-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48503177-48516453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48503309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 239 (S239F)

Ref Sequence

ENSEMBL: ENSMUSP00000034808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034808] [ENSMUST00000119426]

AlphaFold

O55239

PDB Structure

Mouse Nicotinamide N-methyltransferase [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000034808
AA Change: S239F

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034808
Gene: ENSMUSG00000032271
AA Change: S239F

Domain	Start	End	E-Value	Type
Pfam:NNMT_PNMT_TEMT	1	259	7.4e-103	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119426

SMART Domains

Protein: ENSMUSP00000112381
Gene: ENSMUSG00000032271

Domain	Start	End	E-Value	Type
Pfam:NNMT_PNMT_TEMT	1	140	2.9e-59	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

91% (40/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,262,617 (GRCm39)	F70L	probably benign	Het
Abca8a	T	C	11: 109,965,032 (GRCm39)		probably null	Het
Adamts5	T	C	16: 85,659,892 (GRCm39)	D800G	probably damaging	Het
Afm	T	C	5: 90,698,032 (GRCm39)	V478A	possibly damaging	Het
Akap7	T	A	10: 25,096,559 (GRCm39)	K233M	probably damaging	Het
Apbb1	T	C	7: 105,216,630 (GRCm39)	N61S	probably benign	Het
Atp8b1	A	T	18: 64,689,921 (GRCm39)	S604T	probably damaging	Het
Bcl2l14	G	T	6: 134,409,223 (GRCm39)	V266F	possibly damaging	Het
Btnl2	T	A	17: 34,580,137 (GRCm39)	H223Q	probably benign	Het
Cap2	A	G	13: 46,789,224 (GRCm39)	E255G	probably benign	Het
Chd6	A	T	2: 160,812,095 (GRCm39)	F1366Y	possibly damaging	Het
Cryl1	A	T	14: 57,512,938 (GRCm39)	S310T	probably benign	Het
Cyp2c69	A	G	19: 39,839,610 (GRCm39)	C338R	probably damaging	Het
Dclre1c	C	T	2: 3,425,273 (GRCm39)	Q7*	probably null	Het
Dhcr7	A	G	7: 143,399,209 (GRCm39)	E193G	probably damaging	Het
Dnaaf10	T	A	11: 17,179,785 (GRCm39)	V262E	probably damaging	Het
Dnmt1	T	C	9: 20,833,345 (GRCm39)	K652E	probably damaging	Het
Emilin3	A	T	2: 160,752,694 (GRCm39)	C85*	probably null	Het
Erp44	G	A	4: 48,243,531 (GRCm39)	P26S	probably benign	Het
Fxr1	A	G	3: 34,100,403 (GRCm39)	I121V		Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gpc5	A	G	14: 115,654,632 (GRCm39)	N484S	probably benign	Het
Grm8	A	G	6: 27,618,636 (GRCm39)	V402A	probably damaging	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Iqgap1	A	G	7: 80,387,917 (GRCm39)	L910P	probably damaging	Het
Klra2	A	T	6: 131,222,253 (GRCm39)	F13I	possibly damaging	Het
Lmtk2	T	C	5: 144,111,571 (GRCm39)	S764P	probably benign	Het
Ndufs1	T	C	1: 63,186,558 (GRCm39)	D637G	probably damaging	Het
Pdcd11	A	G	19: 47,093,125 (GRCm39)	I468V	probably benign	Het
Pkhd1l1	T	C	15: 44,406,965 (GRCm39)	W2401R	probably damaging	Het
Plec	C	A	15: 76,090,029 (GRCm39)	V104F	unknown	Het
Polq	A	G	16: 36,848,239 (GRCm39)	Y282C	probably damaging	Het
Ppp1r37	A	T	7: 19,265,996 (GRCm39)	V590E	probably damaging	Het
Prr27	T	C	5: 87,991,131 (GRCm39)	S248P	probably benign	Het
Ros1	T	C	10: 52,038,944 (GRCm39)	E351G	probably damaging	Het
Scn11a	T	C	9: 119,645,622 (GRCm39)	I111V	probably benign	Het
Slc35a1	A	G	4: 34,675,148 (GRCm39)	L130S	probably damaging	Het
Slc39a12	T	C	2: 14,425,029 (GRCm39)	L420P	probably damaging	Het
Sp140	T	A	1: 85,547,819 (GRCm39)	I182K	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Trpv3	C	A	11: 73,168,558 (GRCm39)	H42N	probably benign	Het
Zan	A	G	5: 137,427,405 (GRCm39)	S2411P	unknown	Het

Other mutations in Nnmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Nnmt	APN	9	48,503,224 (GRCm39)	utr 3 prime	probably benign
IGL02010:Nnmt	APN	9	48,503,331 (GRCm39)	missense	probably damaging	0.99
IGL02399:Nnmt	APN	9	48,514,838 (GRCm39)	missense	probably damaging	1.00
IGL02593:Nnmt	APN	9	48,516,103 (GRCm39)	critical splice donor site	probably null
IGL03155:Nnmt	APN	9	48,503,352 (GRCm39)	missense	probably damaging	1.00
R0243:Nnmt	UTSW	9	48,503,438 (GRCm39)	missense	probably benign	0.01
R0580:Nnmt	UTSW	9	48,503,600 (GRCm39)	missense	probably damaging	1.00
R1661:Nnmt	UTSW	9	48,516,174 (GRCm39)	missense	probably benign	0.01
R5572:Nnmt	UTSW	9	48,503,447 (GRCm39)	missense	probably damaging	1.00
R5692:Nnmt	UTSW	9	48,514,780 (GRCm39)	missense	probably benign
R6599:Nnmt	UTSW	9	48,514,669 (GRCm39)	missense	probably benign	0.29
R7475:Nnmt	UTSW	9	48,503,532 (GRCm39)	missense	probably damaging	1.00
R8870:Nnmt	UTSW	9	48,514,801 (GRCm39)	missense	probably damaging	1.00
R9025:Nnmt	UTSW	9	48,503,461 (GRCm39)	missense	probably damaging	1.00
R9060:Nnmt	UTSW	9	48,503,367 (GRCm39)	missense	probably benign
R9623:Nnmt	UTSW	9	48,503,660 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGATGGTCTTTGACTGCC -3'
(R):5'- AGTGTGATGTGACCCAGAGC -3'

Sequencing Primer
(F):5'- GATGGTCTTTGACTGCCTCCCC -3'
(R):5'- TTGCTCAGCACGCTGTG -3'

Posted On

2019-11-26