Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Mtr'

503358

Institutional Source

Beutler Lab

Gene Symbol

Mtr

Ensembl Gene

ENSMUSG00000021311

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase

Synonyms

methionine synthase, D830038K18Rik, MS

MMRRC Submission

044343-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12197598-12272999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12205278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1061 (S1061P)

Ref Sequence

ENSEMBL: ENSMUSP00000097442 (fasta)

Gene Model

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

AlphaFold

A6H5Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000099856
AA Change: S1061P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097442
Gene: ENSMUSG00000021311
AA Change: S1061P

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

noncoding transcript
Transcript: ENSMUST00000220473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221190

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,232,670 (GRCm39)	M990L	probably benign	Het
Agl	A	T	3: 116,578,845 (GRCm39)	Y429*	probably null	Het
Ahnak	A	T	19: 8,989,930 (GRCm39)	K3738M	probably damaging	Het
Amn	G	T	12: 111,241,845 (GRCm39)	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,912,318 (GRCm39)	V113I	probably benign	Het
Arhgef28	A	T	13: 98,065,917 (GRCm39)		probably null	Het
Atad2	A	G	15: 57,981,811 (GRCm39)	S18P	probably damaging	Het
Bhmt1b	C	T	18: 87,775,341 (GRCm39)	A288V	probably damaging	Het
C4b	T	A	17: 34,960,061 (GRCm39)	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,726,095 (GRCm39)	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,519,230 (GRCm39)	V366D	possibly damaging	Het
Cdk17	A	T	10: 93,044,093 (GRCm39)	T11S	probably benign	Het
Cenpc1	A	G	5: 86,181,509 (GRCm39)	S619P	probably benign	Het
Clec4d	T	G	6: 123,247,488 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,617,402 (GRCm39)	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677 (GRCm39)	K528R	probably benign	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069 (GRCm39)	V262A	probably damaging	Het
Galnt17	T	A	5: 131,110,434 (GRCm39)	M302L	probably benign	Het
Gpn3	T	C	5: 122,520,175 (GRCm39)	I243T	probably benign	Het
Gpr160	T	C	3: 30,950,141 (GRCm39)	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,244,946 (GRCm39)	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H60b	C	A	10: 22,163,043 (GRCm39)	T206N	probably benign	Het
Hydin	A	T	8: 111,320,434 (GRCm39)	I4493F	probably benign	Het
Il19	C	T	1: 130,866,852 (GRCm39)	E43K	possibly damaging	Het
Ints2	A	G	11: 86,115,884 (GRCm39)	Y782H	probably damaging	Het
Itprid1	T	A	6: 55,851,306 (GRCm39)	I62N	probably damaging	Het
Jph1	C	A	1: 17,167,810 (GRCm39)	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,726,852 (GRCm39)	I62V	probably damaging	Het
Map7	G	A	10: 20,152,026 (GRCm39)		probably null	Het
Matk	T	G	10: 81,095,422 (GRCm39)	W81G	probably damaging	Het
Matn4	T	C	2: 164,242,735 (GRCm39)	Y121C	probably damaging	Het
Mical2	G	A	7: 111,923,293 (GRCm39)		probably null	Het
Miga2	T	G	2: 30,271,674 (GRCm39)	Y399D	probably damaging	Het
Mocos	A	T	18: 24,799,672 (GRCm39)	E302V	probably benign	Het
Mrpl11	C	T	19: 5,014,743 (GRCm39)	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,209,001 (GRCm39)	Y108D	probably damaging	Het
Myh11	T	A	16: 14,026,155 (GRCm39)	K1309*	probably null	Het
Myom2	G	A	8: 15,154,173 (GRCm39)	V704I	possibly damaging	Het
Nars2	A	G	7: 96,706,728 (GRCm39)	H413R	probably benign	Het
Nckap1	A	G	2: 80,355,946 (GRCm39)	L619P	probably damaging	Het
Notch1	T	C	2: 26,362,817 (GRCm39)	N983S	probably damaging	Het
Nup210	A	G	6: 91,002,337 (GRCm39)	V717A	probably benign	Het
P4ha3	G	T	7: 99,966,292 (GRCm39)	G479V	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phf11a	A	G	14: 59,525,028 (GRCm39)	S59P	probably damaging	Het
Phyhip	G	A	14: 70,700,798 (GRCm39)	S95N	probably benign	Het
Ppat	A	G	5: 77,065,993 (GRCm39)	V375A	probably benign	Het
Prkdc	A	G	16: 15,608,456 (GRCm39)	E3086G	probably damaging	Het
Psg22	A	G	7: 18,453,599 (GRCm39)	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,453,610 (GRCm39)	K1013*	probably null	Het
Retreg3	C	T	11: 101,010,526 (GRCm39)	G27D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,431,369 (GRCm39)		probably null	Het
Septin10	T	C	10: 59,006,670 (GRCm39)	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,863,429 (GRCm39)	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,367,119 (GRCm39)	M84K	probably damaging	Het
Shoc1	A	G	4: 59,043,869 (GRCm39)	*1482R	probably null	Het
Skint11	A	G	4: 114,101,907 (GRCm39)	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,227,557 (GRCm39)	V459I	probably benign	Het
Smarca2	T	G	19: 26,748,404 (GRCm39)	Y126*	probably null	Het
Stab2	T	G	10: 86,758,867 (GRCm39)	N1024H	possibly damaging	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Svep1	A	C	4: 58,128,869 (GRCm39)	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068 (GRCm39)	T671I	probably damaging	Het
Thoc5	T	C	11: 4,855,697 (GRCm39)	I82T	probably damaging	Het
Tmem213	G	T	6: 38,092,517 (GRCm39)	C83F	probably damaging	Het
Topaz1	G	A	9: 122,579,570 (GRCm39)	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,050,646 (GRCm39)	G265V	possibly damaging	Het
Ttn	A	G	2: 76,539,808 (GRCm39)	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442 (GRCm39)	Q1201K	probably benign	Het
Zfp354a	T	A	11: 50,951,815 (GRCm39)		probably null	Het
Zfp418	T	C	7: 7,185,096 (GRCm39)	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,192,948 (GRCm39)		probably benign	Het
Zfp503	C	A	14: 22,035,778 (GRCm39)	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,088,462 (GRCm39)	K764E	probably damaging	Het

Other mutations in Mtr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Mtr	APN	13	12,240,536 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTCCAACATCTAGACTCTGC -3'
(R):5'- TGCCTGCAGGTATTCAGAAGTG -3'

Sequencing Primer
(F):5'- AACGTCTACCTCTGCCAGC -3'
(R):5'- CAGGTATTCAGAAGTGTTAGTGTCAG -3'

Posted On

2018-02-27