Mutagenetix > Incidental Mutation

Incidental Mutation 'R8861:Gnmt'

675685

Institutional Source

Beutler Lab

Gene Symbol

Gnmt

Ensembl Gene

ENSMUSG00000002769

Gene Name

glycine N-methyltransferase

Synonyms

glycine N methyl transferase

MMRRC Submission

068740-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R8861 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47036590-47040091 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47037618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 120 (T120M)

Ref Sequence

ENSEMBL: ENSMUSP00000002846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002840] [ENSMUST00000002846]

AlphaFold

Q9QXF8

PDB Structure

Crystal Structure of Mouse Glycine N-Methyltransferase (Tetragonal Form) [X-RAY DIFFRACTION]
Crystal Structure of Mouse Glycine N-Methyltransferase (Monoclinic Form) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000002840

SMART Domains

Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	72	86	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	112	128	N/A	INTRINSIC
low complexity region	173	200	N/A	INTRINSIC
AAA	463	598	6.1e-7	SMART
AAA	737	875	6e-24	SMART
Blast:AAA	928	973	1e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000002846
AA Change: T120M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002846
Gene: ENSMUSG00000002769
AA Change: T120M

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	27	217	9e-11	PFAM
Pfam:Methyltransf_31	56	224	1.3e-15	PFAM
Pfam:Methyltransf_18	57	176	1.5e-15	PFAM
Pfam:Methyltransf_25	61	169	1.4e-10	PFAM
Pfam:Methyltransf_12	62	171	4e-12	PFAM
Pfam:Methyltransf_11	62	173	2.4e-11	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null mutation display elevated levels of methionine and S-adenosylmethionine in the liver. Mice homozygous for another null allele exhibit hepatitis, increased hepatic glycogen storage, and hepatocellular carcinoma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,396,642 (GRCm39)		probably benign	Het
Acly	A	G	11: 100,375,424 (GRCm39)		probably null	Het
Agap2	T	G	10: 126,926,383 (GRCm39)	V896G	unknown	Het
Agtpbp1	T	C	13: 59,643,287 (GRCm39)	Y724C	probably damaging	Het
Angpt4	A	G	2: 151,767,373 (GRCm39)	N135D	probably damaging	Het
Aox3	T	A	1: 58,189,460 (GRCm39)	I387K	probably benign	Het
Bysl	T	C	17: 47,917,884 (GRCm39)	E103G	probably benign	Het
Cdcp3	A	T	7: 130,861,690 (GRCm39)	K1168*	probably null	Het
Chmp5	T	A	4: 40,964,608 (GRCm39)	V208E	probably damaging	Het
Chst9	T	G	18: 15,585,630 (GRCm39)	H311P	possibly damaging	Het
Cilk1	T	A	9: 78,071,844 (GRCm39)	N505K	probably benign	Het
Dcaf11	C	A	14: 55,801,955 (GRCm39)	Y235*	probably null	Het
Dlx5	A	C	6: 6,878,233 (GRCm39)	S266A	probably benign	Het
Dnah7b	T	A	1: 46,280,236 (GRCm39)	S2722T	possibly damaging	Het
Drc1	G	A	5: 30,521,839 (GRCm39)		probably benign	Het
En2	T	A	5: 28,371,733 (GRCm39)	I70N	probably damaging	Het
Fam72a	T	C	1: 131,466,656 (GRCm39)	Y147H	possibly damaging	Het
Fermt2	A	T	14: 45,697,466 (GRCm39)	F628L	possibly damaging	Het
Fkrp	T	A	7: 16,544,749 (GRCm39)	D371V	probably damaging	Het
Fmn1	T	C	2: 113,195,149 (GRCm39)	L283P	unknown	Het
Gm13271	G	A	4: 88,673,366 (GRCm39)	V88I	probably benign	Het
H2-T22	A	T	17: 36,353,290 (GRCm39)	V10D	possibly damaging	Het
Hbs1l	T	A	10: 21,220,963 (GRCm39)		probably benign	Het
Igf2bp3	A	C	6: 49,082,550 (GRCm39)	M344R	possibly damaging	Het
Kdm1b	T	C	13: 47,217,582 (GRCm39)	V347A	probably benign	Het
Klra17	A	T	6: 129,851,865 (GRCm39)	S2R	probably damaging	Het
Klri1	A	G	6: 129,675,164 (GRCm39)	S199P	probably benign	Het
Ltk	T	A	2: 119,590,094 (GRCm39)	Q44L	probably benign	Het
Map3k20	C	A	2: 72,219,811 (GRCm39)		probably benign	Het
Matn4	A	T	2: 164,234,825 (GRCm39)	Y549N		Het
Mcoln3	T	A	3: 145,845,159 (GRCm39)	F452I	probably damaging	Het
Mipol1	T	C	12: 57,352,802 (GRCm39)	V47A	probably benign	Het
Msh4	A	G	3: 153,607,105 (GRCm39)	L145S	probably benign	Het
Myh11	A	T	16: 14,064,646 (GRCm39)	I224N		Het
Nat8f1	A	G	6: 85,887,444 (GRCm39)	L172P	probably damaging	Het
Ncoa7	T	A	10: 30,567,364 (GRCm39)	K438I	probably benign	Het
Nr1h3	T	G	2: 91,024,026 (GRCm39)		probably benign	Het
Nuggc	T	C	14: 65,847,484 (GRCm39)		probably null	Het
Or4b12	T	C	2: 90,096,803 (GRCm39)		probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or7h8	A	T	9: 20,124,377 (GRCm39)	H244L	probably damaging	Het
Pfn4	T	A	12: 4,825,456 (GRCm39)	Y98N	probably benign	Het
Ppp6r2	T	G	15: 89,143,368 (GRCm39)	C172G	probably damaging	Het
Ptprk	A	G	10: 28,446,186 (GRCm39)	D979G	probably damaging	Het
Rbm28	A	G	6: 29,152,284 (GRCm39)	I329T	probably damaging	Het
Rnf144a	T	C	12: 26,389,343 (GRCm39)	T33A	probably damaging	Het
Rnf145	A	G	11: 44,445,984 (GRCm39)	T273A	probably damaging	Het
Rnf213	G	A	11: 119,333,062 (GRCm39)	R2758H		Het
Slc22a19	A	T	19: 7,660,324 (GRCm39)	M362K	possibly damaging	Het
Slc29a4	G	C	5: 142,704,580 (GRCm39)	R374P	probably damaging	Het
Slc43a1	A	G	2: 84,691,748 (GRCm39)	T528A	possibly damaging	Het
Sp3	A	T	2: 72,801,630 (GRCm39)	Y172N	probably damaging	Het
Srpra	T	A	9: 35,127,045 (GRCm39)	M573K	probably benign	Het
Steap4	A	G	5: 8,025,672 (GRCm39)	I78V	probably benign	Het
Sulf2	A	G	2: 165,974,606 (GRCm39)	L26P	possibly damaging	Het
Taok2	T	C	7: 126,470,615 (GRCm39)	K738E	probably damaging	Het
Tcea3	G	A	4: 135,981,810 (GRCm39)	R56H	probably damaging	Het
Tcf20	A	G	15: 82,736,726 (GRCm39)	V1575A	probably damaging	Het
Togaram1	T	G	12: 65,027,406 (GRCm39)	S798R	possibly damaging	Het

Other mutations in Gnmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Gnmt	APN	17	47,037,606 (GRCm39)	missense	probably benign	0.28
health_nut	UTSW	17	47,037,271 (GRCm39)	missense	probably damaging	1.00
impulsive	UTSW	17	47,036,892 (GRCm39)	missense	probably damaging	1.00
Incautious	UTSW	17	47,038,313 (GRCm39)	missense	probably damaging	1.00
rash	UTSW	17	47,036,662 (GRCm39)	utr 3 prime	probably benign
R0480:Gnmt	UTSW	17	47,036,854 (GRCm39)	missense	probably benign	0.06
R0938:Gnmt	UTSW	17	47,037,271 (GRCm39)	missense	probably damaging	1.00
R0939:Gnmt	UTSW	17	47,037,271 (GRCm39)	missense	probably damaging	1.00
R0940:Gnmt	UTSW	17	47,037,271 (GRCm39)	missense	probably damaging	1.00
R0941:Gnmt	UTSW	17	47,037,271 (GRCm39)	missense	probably damaging	1.00
R3619:Gnmt	UTSW	17	47,039,963 (GRCm39)	missense	possibly damaging	0.63
R4173:Gnmt	UTSW	17	47,037,047 (GRCm39)	missense	probably damaging	1.00
R4456:Gnmt	UTSW	17	47,039,910 (GRCm39)	missense	probably benign	0.07
R4498:Gnmt	UTSW	17	47,036,662 (GRCm39)	utr 3 prime	probably benign
R4659:Gnmt	UTSW	17	47,036,892 (GRCm39)	missense	probably damaging	1.00
R4669:Gnmt	UTSW	17	47,037,225 (GRCm39)	nonsense	probably null
R4827:Gnmt	UTSW	17	47,038,245 (GRCm39)	missense	possibly damaging	0.77
R5112:Gnmt	UTSW	17	47,037,256 (GRCm39)	missense	probably damaging	1.00
R5133:Gnmt	UTSW	17	47,036,860 (GRCm39)	missense	probably benign
R5797:Gnmt	UTSW	17	47,037,305 (GRCm39)	missense	probably damaging	1.00
R7423:Gnmt	UTSW	17	47,037,066 (GRCm39)	missense	probably damaging	1.00
R7825:Gnmt	UTSW	17	47,040,019 (GRCm39)	missense	probably damaging	0.99
R8785:Gnmt	UTSW	17	47,038,313 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCATCTGCTTAGGCCTC -3'
(R):5'- ACAAAAGCCCCTAAGTGGAG -3'

Sequencing Primer
(F):5'- TGCTTAGGCCTCCAGCAC -3'
(R):5'- CCTAAGTGGAGGGCTGGC -3'

Posted On

2021-07-15