Mutagenetix > Incidental Mutations

Incidental Mutation 'R3412:Mthfd1'

267779

Institutional Source

Beutler Lab

Gene Symbol

Mthfd1

Ensembl Gene

ENSMUSG00000021048

Gene Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase

Synonyms

Mthfd, DCS, E430024A07Rik

MMRRC Submission

040630-MU

Accession Numbers

Genbank: NM_138745; MGI: 1342005

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76255298-76319803 bp(+) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 76303749 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021443] [ENSMUST00000220046] [ENSMUST00000220321]

Predicted Effect

probably null
Transcript: ENSMUST00000021443

SMART Domains

Protein: ENSMUSP00000021443
Gene: ENSMUSG00000021048

Domain	Start	End	E-Value	Type
Pfam:THF_DHG_CYH	6	125	1.7e-36	PFAM
Pfam:THF_DHG_CYH_C	128	295	1.1e-67	PFAM
Pfam:FTHFS	317	935	4.1e-259	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218513

Predicted Effect

probably null
Transcript: ENSMUST00000220046

Predicted Effect

probably benign
Transcript: ENSMUST00000220321

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: This gene encodes a trifunctional cytoplasmic enzyme. The encoded protein functions as a methylenetetrahydrofolate dehydrogenase, a methenyltetrahydrofolate cyclohydrolase, and a formyltetrahydrofolate synthase. The encoded enzyme functions in de novo synthesis of purines and thymidylate and in regeneration of methionine from homocysteine. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit altered amino acid levels and nucleotide metabolism related to dietary folate and choline concentrations. [provided by MGI curators]

Allele List at MGI

All alleles(57) : Targeted, other(2) Gene trapped(54) Radiation induced(1)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Arhgef5	A	G	6: 43,273,790	I492V	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Ccdc162	T	C	10: 41,539,549		probably benign	Het
Diexf	A	C	1: 193,128,502	S64R	possibly damaging	Het
Esp24	T	A	17: 39,038,316	I11N	possibly damaging	Het
Exoc4	A	G	6: 33,265,975	E41G	probably damaging	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Gm4981	G	A	10: 58,236,353	T13I	possibly damaging	Het
Gria4	T	A	9: 4,513,278	D277V	probably benign	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Inpp5d	C	A	1: 87,668,057	T175N	possibly damaging	Het
Krt90	T	A	15: 101,560,593	L171F	probably damaging	Het
Olfr262	T	C	19: 12,241,590	I24V	probably benign	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr786	A	T	10: 129,437,307	D165V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,246,545		probably benign	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc12a5	A	G	2: 164,968,431	D10G	probably benign	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Sos1	T	C	17: 80,406,717	D1108G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Tacc2	A	G	7: 130,734,994	T2369A	probably benign	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubr5	T	C	15: 38,004,235		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Mthfd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Mthfd1	APN	12	76300439	missense	possibly damaging	0.79
IGL01996:Mthfd1	APN	12	76303905	missense	probably damaging	1.00
IGL02399:Mthfd1	APN	12	76317632	missense	probably damaging	1.00
IGL02529:Mthfd1	APN	12	76303709	missense	probably benign	0.02
3-1:Mthfd1	UTSW	12	76314400	critical splice acceptor site	probably null
R0062:Mthfd1	UTSW	12	76297589	splice site	probably benign
R0062:Mthfd1	UTSW	12	76297589	splice site	probably benign
R0732:Mthfd1	UTSW	12	76294174	missense	probably damaging	1.00
R1572:Mthfd1	UTSW	12	76270419	nonsense	probably null
R1918:Mthfd1	UTSW	12	76314976	missense	probably damaging	1.00
R2008:Mthfd1	UTSW	12	76297519	missense	probably damaging	1.00
R2280:Mthfd1	UTSW	12	76280492	missense	probably benign	0.37
R2857:Mthfd1	UTSW	12	76288925	missense	probably damaging	0.99
R2859:Mthfd1	UTSW	12	76288925	missense	probably damaging	0.99
R2997:Mthfd1	UTSW	12	76315036	missense	probably benign	0.01
R3034:Mthfd1	UTSW	12	76289470	missense	probably benign	0.04
R3153:Mthfd1	UTSW	12	76311963	missense	probably benign
R4135:Mthfd1	UTSW	12	76282874	splice site	probably null
R4245:Mthfd1	UTSW	12	76301273	missense	probably damaging	0.99
R4498:Mthfd1	UTSW	12	76314990	missense	probably damaging	1.00
R4573:Mthfd1	UTSW	12	76294138	critical splice acceptor site	probably null
R5022:Mthfd1	UTSW	12	76294374	missense	probably damaging	1.00
R5022:Mthfd1	UTSW	12	76301328	missense	probably damaging	1.00
R5037:Mthfd1	UTSW	12	76294140	missense	probably damaging	1.00
R5455:Mthfd1	UTSW	12	76301288	missense	probably benign	0.20
R5879:Mthfd1	UTSW	12	76294218	missense	probably benign	0.00
R5902:Mthfd1	UTSW	12	76291052	missense	probably benign	0.01
R6119:Mthfd1	UTSW	12	76303673	missense	probably damaging	1.00
R6199:Mthfd1	UTSW	12	76288911	missense	probably damaging	1.00
R6199:Mthfd1	UTSW	12	76303680	missense	probably damaging	1.00
R6931:Mthfd1	UTSW	12	76303698	missense	probably benign
R7405:Mthfd1	UTSW	12	76311874	missense	probably damaging	0.98
R7658:Mthfd1	UTSW	12	76270435	missense	probably damaging	1.00
R8053:Mthfd1	UTSW	12	76280508	missense	probably damaging	1.00
R8493:Mthfd1	UTSW	12	76294155	missense	probably damaging	1.00
X0012:Mthfd1	UTSW	12	76314408	missense	possibly damaging	0.75
Z1176:Mthfd1	UTSW	12	76303967	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GATTTTCCTCCCAGAAGGTCC -3'
(R):5'- CTGACAGTGGCAACCAGAAC -3'

Sequencing Primer
(F):5'- CCTTTGGCTCCTGTGGC -3'
(R):5'- CCAGAACCACCACGTGTG -3'

Posted On

2015-02-18