Mutagenetix > Incidental Mutation

Incidental Mutation 'R4012:Mtr'

311772

Institutional Source

Beutler Lab

Gene Symbol

Mtr

Ensembl Gene

ENSMUSG00000021311

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase

Synonyms

methionine synthase, D830038K18Rik, MS

MMRRC Submission

040949-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12197598-12272999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 12204284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Aspartic acid at position 1171 (H1171D)

Ref Sequence

ENSEMBL: ENSMUSP00000097442 (fasta)

Gene Model

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

AlphaFold

A6H5Y3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099856
AA Change: H1171D

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

SMART Domains

Protein: ENSMUSP00000097442
Gene: ENSMUSG00000021311
AA Change: H1171D

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

Meta Mutation Damage Score

0.9736

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.0%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	G	T	18: 80,174,036 (GRCm39)	F124L	probably benign	Het
Aicda	A	G	6: 122,536,449 (GRCm39)	K10E	probably benign	Het
Als2	A	G	1: 59,226,575 (GRCm39)	C910R	probably benign	Het
Ankrd11	T	A	8: 123,619,156 (GRCm39)	K1565N	probably damaging	Het
Apol7b	T	C	15: 77,308,909 (GRCm39)	D63G	probably damaging	Het
Arhgef4	T	C	1: 34,764,187 (GRCm39)	C1148R	possibly damaging	Het
Atg16l1	A	G	1: 87,694,629 (GRCm39)	D102G	probably damaging	Het
Babam2	T	C	5: 32,158,782 (GRCm39)	V244A	probably damaging	Het
Brd10	T	G	19: 29,720,990 (GRCm39)	K622N	probably damaging	Het
Cars1	G	A	7: 143,113,411 (GRCm39)	A668V	possibly damaging	Het
Ccdc168	T	C	1: 44,100,129 (GRCm39)	D323G	possibly damaging	Het
Ccdc185	T	A	1: 182,576,453 (GRCm39)	S79C	possibly damaging	Het
Ccdc88b	G	C	19: 6,826,359 (GRCm39)	R1119G	probably damaging	Het
Cebpz	A	T	17: 79,231,896 (GRCm39)	V810E	probably damaging	Het
Cep120	T	C	18: 53,871,654 (GRCm39)	T73A	probably damaging	Het
Chat	C	A	14: 32,145,269 (GRCm39)	C380F	possibly damaging	Het
Cltc	T	C	11: 86,648,087 (GRCm39)	Q10R	probably benign	Het
Cripto	C	T	9: 110,769,781 (GRCm39)	M169I	probably benign	Het
Cst8	T	C	2: 148,646,622 (GRCm39)		probably benign	Het
Cts3	C	T	13: 61,715,868 (GRCm39)		probably null	Het
Cyp4a29	T	A	4: 115,105,707 (GRCm39)	D136E	probably benign	Het
Dmxl2	A	C	9: 54,286,297 (GRCm39)		probably null	Het
Dsg4	T	A	18: 20,584,919 (GRCm39)	V211E	possibly damaging	Het
Efcab5	C	T	11: 77,008,656 (GRCm39)	V957I	probably damaging	Het
Eif4g2	A	T	7: 110,673,358 (GRCm39)	L807Q	possibly damaging	Het
Epha4	A	G	1: 77,366,731 (GRCm39)		probably benign	Het
Epm2aip1	A	T	9: 111,101,458 (GRCm39)	I144F	probably benign	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam170a	C	T	18: 50,415,038 (GRCm39)	A228V	probably damaging	Het
Foxred1	A	T	9: 35,117,571 (GRCm39)	M254K	possibly damaging	Het
Gm1527	T	A	3: 28,952,969 (GRCm39)	C90S	probably benign	Het
Gpr137b	T	C	13: 13,533,947 (GRCm39)	T370A	probably benign	Het
Gtf2e2	A	G	8: 34,245,993 (GRCm39)		probably benign	Het
Hgsnat	A	T	8: 26,445,817 (GRCm39)	L359*	probably null	Het
Hhip	A	T	8: 80,719,223 (GRCm39)	C435S	probably damaging	Het
Hoxa13	T	C	6: 52,236,107 (GRCm39)	D310G	possibly damaging	Het
Hspa14	T	C	2: 3,513,675 (GRCm39)	Y18C	probably damaging	Het
Ighg1	A	G	12: 113,293,270 (GRCm39)	V140A	probably damaging	Het
Ighv1-58	A	T	12: 115,275,930 (GRCm39)	Y69*	probably null	Het
Inpp5j	A	G	11: 3,450,185 (GRCm39)	F615L	probably benign	Het
Kcna1	T	A	6: 126,619,873 (GRCm39)	Y149F	probably benign	Het
Kcnj6	A	T	16: 94,625,877 (GRCm39)		probably null	Het
Krtap4-1	G	T	11: 99,518,637 (GRCm39)	C124*	probably null	Het
Lama1	T	A	17: 68,119,368 (GRCm39)	L2615*	probably null	Het
Lcp2	A	T	11: 34,018,439 (GRCm39)	I72F	probably damaging	Het
Med1	T	A	11: 98,062,532 (GRCm39)	I189F	possibly damaging	Het
Meioc	C	T	11: 102,566,654 (GRCm39)	R757C	probably damaging	Het
Naa12	A	G	18: 80,255,339 (GRCm39)	D211G	probably benign	Het
Nlrc5	A	G	8: 95,202,620 (GRCm39)	Y240C	possibly damaging	Het
Nsun4	T	A	4: 115,908,259 (GRCm39)	H767L	possibly damaging	Het
Pcdha1	T	A	18: 37,064,189 (GRCm39)	N284K	probably benign	Het
Pcdhgb8	A	C	18: 37,896,414 (GRCm39)	S495R	probably benign	Het
Pramel1	T	A	4: 143,123,260 (GRCm39)	I79N	possibly damaging	Het
Prdm6	A	T	18: 53,673,390 (GRCm39)	E183D	possibly damaging	Het
Prex2	T	C	1: 11,254,740 (GRCm39)	F1125L	probably benign	Het
Prkg2	T	C	5: 99,127,674 (GRCm39)	I346V	possibly damaging	Het
Ptprz1	A	G	6: 23,002,584 (GRCm39)	D1558G	probably damaging	Het
Pttg1ip2	A	C	5: 5,528,955 (GRCm39)	L20R	probably damaging	Het
Qng1	T	A	13: 58,529,800 (GRCm39)	K271*	probably null	Het
Rab11fip3	GCTCGTCT	GCT	17: 26,287,002 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
S100a6	A	G	3: 90,521,508 (GRCm39)	D50G	probably damaging	Het
Shroom3	T	A	5: 93,096,342 (GRCm39)		probably benign	Het
Sipa1l1	G	A	12: 82,388,556 (GRCm39)	V261M	possibly damaging	Het
Slc5a4b	T	A	10: 75,910,826 (GRCm39)	I337F	probably damaging	Het
Smarcc1	A	G	9: 109,961,273 (GRCm39)	Y30C	possibly damaging	Het
Swap70	A	G	7: 109,880,512 (GRCm39)	K576E	possibly damaging	Het
Syt6	A	G	3: 103,532,809 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,241,097 (GRCm39)	I1726V	probably benign	Het
Thoc1	A	G	18: 9,987,651 (GRCm39)	K453E	possibly damaging	Het
Tmem38b	A	G	4: 53,854,409 (GRCm39)	I214V	probably benign	Het
Tonsl	A	T	15: 76,521,244 (GRCm39)	I354N	probably damaging	Het
Trappc9	T	C	15: 72,903,472 (GRCm39)	I303V	possibly damaging	Het
Trim66	A	G	7: 109,057,338 (GRCm39)	S1032P	probably damaging	Het
Tsc22d4	T	C	5: 137,756,590 (GRCm39)	V6A	probably benign	Het
Ubtd2	A	G	11: 32,449,260 (GRCm39)	K36E	probably benign	Het
Zkscan2	T	C	7: 123,097,883 (GRCm39)	E171G	possibly 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	12,204,283 (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

Predicted Primers

PCR Primer
(F):5'- ATCCCATCTACCTGAGAAAGAAGG -3'
(R):5'- AAAGCAGTTCGGTGCCACTG -3'

Sequencing Primer
(F):5'- CCATCTACCTGAGAAAGAAGGGGATG -3'
(R):5'- TGCCACTGTGACGCAAGGATAG -3'

Posted On

2015-04-29