Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01299:Mtr'

75217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtr

Ensembl Gene

ENSMUSG00000021311

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase

Synonyms

methionine synthase, D830038K18Rik, MS

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01299

Quality Score

Status

Chromosome

Chromosomal Location

12197598-12272999 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 12240536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099856] [ENSMUST00000221290]

AlphaFold

A6H5Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000099856

SMART Domains

Protein: ENSMUSP00000097442
Gene: ENSMUSG00000021311

Domain	Start	End	E-Value	Type
Pfam:S-methyl_trans	18	326	1.5e-93	PFAM
Pfam:Pterin_bind	363	601	4.6e-63	PFAM
B12-binding_2	657	743	6.42e-41	SMART
Pfam:B12-binding	761	861	3.3e-20	PFAM
Pfam:Met_synt_B12	953	1234	2.5e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221290

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Gene trapped(5)

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,248,743 (GRCm39)	T2830I	probably benign	Het
Akap1	C	T	11: 88,735,080 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Cox6b1	G	A	7: 30,316,553 (GRCm39)	T81I	possibly damaging	Het
Creb1	T	C	1: 64,609,284 (GRCm39)		probably benign	Het
Cyp4f40	G	T	17: 32,886,948 (GRCm39)	A140S	probably benign	Het
Dus4l	A	G	12: 31,690,823 (GRCm39)	M276T	probably benign	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Fmo2	A	T	1: 162,705,599 (GRCm39)	N413K	probably benign	Het
Gabrp	T	C	11: 33,504,476 (GRCm39)	T280A	probably damaging	Het
Golph3l	A	G	3: 95,524,588 (GRCm39)	T217A	possibly damaging	Het
Nbea	T	G	3: 55,598,315 (GRCm39)	D2398A	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Phyh	T	A	2: 4,935,604 (GRCm39)	W193R	probably null	Het
Rab36	A	G	10: 74,884,298 (GRCm39)	Q82R	probably damaging	Het
Ranbp2	T	C	10: 58,328,639 (GRCm39)	V2846A	probably damaging	Het
Rprd2	G	A	3: 95,683,859 (GRCm39)	S374L	probably damaging	Het
Slc9a3	A	G	13: 74,308,382 (GRCm39)	R462G	probably benign	Het
Slitrk3	T	C	3: 72,956,349 (GRCm39)	N808D	probably benign	Het
Tbck	A	T	3: 132,430,638 (GRCm39)	I345F	probably damaging	Het
Tor2a	T	A	2: 32,649,558 (GRCm39)	V146D	probably damaging	Het
Trpc6	C	A	9: 8,653,062 (GRCm39)	Q623K	probably damaging	Het
Ube2q1	A	G	3: 89,688,681 (GRCm39)	S192G	probably damaging	Het
Vnn1	T	A	10: 23,770,949 (GRCm39)	L59Q	probably damaging	Het

Other mutations in Mtr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02456:Mtr	APN	13	12,213,980 (GRCm39)	missense	probably damaging	0.98
IGL02573:Mtr	APN	13	12,214,013 (GRCm39)	missense	possibly damaging	0.95
IGL02642:Mtr	APN	13	12,210,118 (GRCm39)	splice site	probably benign
IGL03005:Mtr	APN	13	12,250,335 (GRCm39)	splice site	probably benign
IGL03017:Mtr	APN	13	12,262,777 (GRCm39)	critical splice donor site	probably null
IGL03036:Mtr	APN	13	12,262,263 (GRCm39)	missense	probably damaging	1.00
H8930:Mtr	UTSW	13	12,250,346 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Mtr	UTSW	13	12,227,329 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Mtr	UTSW	13	12,212,871 (GRCm39)	nonsense	probably null
R0011:Mtr	UTSW	13	12,252,938 (GRCm39)	splice site	probably benign
R0047:Mtr	UTSW	13	12,237,112 (GRCm39)	missense	probably damaging	1.00
R0047:Mtr	UTSW	13	12,237,112 (GRCm39)	missense	probably damaging	1.00
R0304:Mtr	UTSW	13	12,237,040 (GRCm39)	critical splice donor site	probably null
R0617:Mtr	UTSW	13	12,236,318 (GRCm39)	missense	probably benign
R0842:Mtr	UTSW	13	12,215,133 (GRCm39)	missense	probably damaging	1.00
R1101:Mtr	UTSW	13	12,204,411 (GRCm39)	missense	possibly damaging	0.84
R1450:Mtr	UTSW	13	12,208,619 (GRCm39)	missense	probably damaging	0.99
R1534:Mtr	UTSW	13	12,250,430 (GRCm39)	splice site	probably benign
R1907:Mtr	UTSW	13	12,240,418 (GRCm39)	missense	probably damaging	1.00
R2111:Mtr	UTSW	13	12,259,487 (GRCm39)	missense	possibly damaging	0.86
R2354:Mtr	UTSW	13	12,203,043 (GRCm39)	splice site	probably benign
R3849:Mtr	UTSW	13	12,262,251 (GRCm39)	missense	probably benign	0.16
R3899:Mtr	UTSW	13	12,231,735 (GRCm39)	missense	probably benign	0.00
R4012:Mtr	UTSW	13	12,204,284 (GRCm39)	missense	probably damaging	1.00
R4012:Mtr	UTSW	13	12,204,283 (GRCm39)	missense	probably damaging	1.00
R4075:Mtr	UTSW	13	12,230,298 (GRCm39)	critical splice donor site	probably null
R4091:Mtr	UTSW	13	12,245,943 (GRCm39)	missense	probably damaging	1.00
R4655:Mtr	UTSW	13	12,242,679 (GRCm39)	missense	probably damaging	1.00
R4801:Mtr	UTSW	13	12,210,137 (GRCm39)	missense	probably benign	0.01
R4802:Mtr	UTSW	13	12,210,137 (GRCm39)	missense	probably benign	0.01
R4895:Mtr	UTSW	13	12,231,752 (GRCm39)	missense	probably benign	0.01
R5481:Mtr	UTSW	13	12,203,041 (GRCm39)	critical splice acceptor site	probably null
R5966:Mtr	UTSW	13	12,230,453 (GRCm39)	critical splice acceptor site	probably null
R6209:Mtr	UTSW	13	12,205,278 (GRCm39)	missense	probably benign	0.00
R6348:Mtr	UTSW	13	12,262,840 (GRCm39)	missense	possibly damaging	0.49
R6463:Mtr	UTSW	13	12,231,752 (GRCm39)	missense	probably benign	0.01
R6467:Mtr	UTSW	13	12,202,992 (GRCm39)	missense	probably damaging	1.00
R7046:Mtr	UTSW	13	12,205,095 (GRCm39)	missense	possibly damaging	0.58
R7505:Mtr	UTSW	13	12,236,362 (GRCm39)	missense	probably benign	0.02
R7575:Mtr	UTSW	13	12,213,963 (GRCm39)	missense	probably benign	0.01
R7705:Mtr	UTSW	13	12,264,782 (GRCm39)	missense	probably benign
R7748:Mtr	UTSW	13	12,242,725 (GRCm39)	missense	probably benign	0.00
R8161:Mtr	UTSW	13	12,236,372 (GRCm39)	missense	probably damaging	0.99
R8290:Mtr	UTSW	13	12,205,139 (GRCm39)	missense	probably damaging	1.00
R8988:Mtr	UTSW	13	12,250,365 (GRCm39)	missense	probably benign
R9050:Mtr	UTSW	13	12,231,748 (GRCm39)	missense	probably null	0.67
R9420:Mtr	UTSW	13	12,268,764 (GRCm39)	missense	probably benign	0.04
R9655:Mtr	UTSW	13	12,203,030 (GRCm39)	missense	probably damaging	1.00
X0064:Mtr	UTSW	13	12,265,543 (GRCm39)	missense	probably damaging	1.00
Z1177:Mtr	UTSW	13	12,264,752 (GRCm39)	nonsense	probably null
Z1177:Mtr	UTSW	13	12,201,935 (GRCm39)	missense	probably benign	0.32

Posted On

2013-10-07