Mutagenetix > Incidental Mutation

Incidental Mutation 'R5902:Mthfd1'

456403

Institutional Source

Beutler Lab

Gene Symbol

Mthfd1

Ensembl Gene

ENSMUSG00000021048

Gene Name

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

Synonyms

E430024A07Rik, Mthfd, DCS

MMRRC Submission

044100-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5902 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

76302072-76366577 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76337826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 400 (H400L)

Ref Sequence

ENSEMBL: ENSMUSP00000021443 (fasta)

Gene Model

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

AlphaFold

Q922D8

Predicted Effect

probably benign
Transcript: ENSMUST00000021443
AA Change: H400L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000021443
Gene: ENSMUSG00000021048
AA Change: H400L

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: ENSMUST00000218331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218341

Predicted Effect

probably benign
Transcript: ENSMUST00000220046
AA Change: H220L

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

Meta Mutation Damage Score

0.6439

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.1%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,539,281 (GRCm39)	M1V	probably null	Het
Abca13	T	A	11: 9,247,177 (GRCm39)	L2308H	probably damaging	Het
Abcc8	T	C	7: 45,764,463 (GRCm39)	T1161A	probably benign	Het
Acin1	T	A	14: 54,901,130 (GRCm39)	T659S	probably benign	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Alkbh8	A	G	9: 3,385,414 (GRCm39)	K569E	probably benign	Het
Anxa3	A	T	5: 96,960,712 (GRCm39)	K39*	probably null	Het
Aoc2	A	G	11: 101,220,072 (GRCm39)	E659G	probably damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU022252	T	C	4: 119,084,101 (GRCm39)	D104G	probably benign	Het
Car6	T	C	4: 150,271,956 (GRCm39)	Y231C	possibly damaging	Het
Cdh10	T	G	15: 18,985,341 (GRCm39)		probably null	Het
Cebpz	A	C	17: 79,233,366 (GRCm39)	M787R	probably benign	Het
Chst2	A	G	9: 95,287,662 (GRCm39)	L228P	probably damaging	Het
Clic4	T	C	4: 134,999,869 (GRCm39)	K11R	probably benign	Het
Col6a3	C	T	1: 90,729,921 (GRCm39)		probably null	Het
Commd7	T	A	2: 153,463,737 (GRCm39)	T144S	probably damaging	Het
Ctla2a	T	A	13: 61,082,834 (GRCm39)	*138Y	probably null	Het
Dhx33	A	T	11: 70,879,957 (GRCm39)	V351D	probably damaging	Het
Dnah9	G	A	11: 65,916,013 (GRCm39)	T2313I	probably benign	Het
Dspp	A	T	5: 104,325,977 (GRCm39)	D780V	unknown	Het
Dync1li1	A	G	9: 114,546,929 (GRCm39)		probably null	Het
E2f3	C	T	13: 30,169,250 (GRCm39)		probably benign	Het
Fan1	T	C	7: 64,023,070 (GRCm39)		probably null	Het
Gart	A	G	16: 91,425,415 (GRCm39)	S617P	probably damaging	Het
Ggcx	A	G	6: 72,406,979 (GRCm39)	N705S	possibly damaging	Het
Gm4841	A	T	18: 60,403,868 (GRCm39)	V75E	probably damaging	Het
Greb1l	A	G	18: 10,538,302 (GRCm39)	E1105G	probably benign	Het
Hr	C	A	14: 70,795,231 (GRCm39)	Q288K	probably benign	Het
Hus1	T	C	11: 8,960,669 (GRCm39)		probably benign	Het
Ifi47	C	A	11: 48,986,213 (GRCm39)		probably null	Het
Irf2bp1	T	C	7: 18,738,372 (GRCm39)	V4A	probably benign	Het
Kprp	C	T	3: 92,731,835 (GRCm39)	C405Y	unknown	Het
Lacc1	T	C	14: 77,272,239 (GRCm39)	I186V	possibly damaging	Het
Lifr	A	G	15: 7,220,231 (GRCm39)	T954A	probably benign	Het
Lonrf2	T	C	1: 38,846,174 (GRCm39)	M333V	probably benign	Het
Myh4	A	G	11: 67,141,733 (GRCm39)	K864R	possibly damaging	Het
Nup50	C	T	15: 84,819,641 (GRCm39)	A305V	probably benign	Het
Or4a74	T	A	2: 89,439,595 (GRCm39)	I284L	probably damaging	Het
Or4k44	C	T	2: 111,367,739 (GRCm39)	M298I	probably benign	Het
Pax4	G	T	6: 28,447,126 (GRCm39)	Q3K	probably benign	Het
Pced1b	T	G	15: 97,282,970 (GRCm39)	Y336*	probably null	Het
Postn	C	A	3: 54,279,510 (GRCm39)	N329K	probably benign	Het
Prickle1	T	C	15: 93,408,553 (GRCm39)	E82G	probably null	Het
Prtn3	T	C	10: 79,718,766 (GRCm39)	Y241H	probably damaging	Het
Rasgrf2	A	T	13: 92,068,011 (GRCm39)	I260K	probably damaging	Het
Sh3glb1	T	C	3: 144,418,431 (GRCm39)	N44S	possibly damaging	Het
Sis	A	T	3: 72,867,589 (GRCm39)		probably null	Het
Slc4a9	A	G	18: 36,662,386 (GRCm39)		probably null	Het
Slc4a9	A	T	18: 36,664,560 (GRCm39)	D406V	probably damaging	Het
Slc8a1	C	T	17: 81,715,511 (GRCm39)	G841R	probably damaging	Het
Smn1	C	T	13: 100,263,412 (GRCm39)	P60L	probably benign	Het
Snai1	G	A	2: 167,383,930 (GRCm39)	C241Y	probably damaging	Het
Spock3	A	G	8: 63,808,336 (GRCm39)	D411G	unknown	Het
Szt2	T	A	4: 118,248,700 (GRCm39)	T607S	probably benign	Het
Tcap	A	T	11: 98,274,673 (GRCm39)	M1L	probably benign	Het
Tex29	A	T	8: 11,905,723 (GRCm39)		probably benign	Het
Tex29	C	A	8: 11,904,276 (GRCm39)		probably benign	Het
Tex29	C	T	8: 11,904,277 (GRCm39)		probably benign	Het
Tln2	T	C	9: 67,269,999 (GRCm39)	T467A	probably benign	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Ube2q1	T	A	3: 89,683,487 (GRCm39)	L144*	probably null	Het
Vps13c	A	G	9: 67,841,729 (GRCm39)	E1917G	probably benign	Het
Wdr19	T	A	5: 65,384,482 (GRCm39)	N525K	probably benign	Het
Wdr3	A	T	3: 100,051,807 (GRCm39)		probably benign	Het
Wnt5b	T	A	6: 119,425,199 (GRCm39)	H6L	probably benign	Het
Yju2	A	G	17: 56,269,077 (GRCm39)	T62A	probably damaging	Het
Zdbf2	T	C	1: 63,345,685 (GRCm39)	S1355P	possibly damaging	Het
Zfp11	T	A	5: 129,734,976 (GRCm39)	I162F	probably damaging	Het
Zpbp	T	C	11: 11,365,332 (GRCm39)	T172A	probably benign	Het

Other mutations in Mthfd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Mthfd1	APN	12	76,347,213 (GRCm39)	missense	possibly damaging	0.79
IGL01996:Mthfd1	APN	12	76,350,679 (GRCm39)	missense	probably damaging	1.00
IGL02399:Mthfd1	APN	12	76,364,406 (GRCm39)	missense	probably damaging	1.00
IGL02529:Mthfd1	APN	12	76,350,483 (GRCm39)	missense	probably benign	0.02
3-1:Mthfd1	UTSW	12	76,361,174 (GRCm39)	critical splice acceptor site	probably null
R0062:Mthfd1	UTSW	12	76,344,363 (GRCm39)	splice site	probably benign
R0062:Mthfd1	UTSW	12	76,344,363 (GRCm39)	splice site	probably benign
R0732:Mthfd1	UTSW	12	76,340,948 (GRCm39)	missense	probably damaging	1.00
R1572:Mthfd1	UTSW	12	76,317,193 (GRCm39)	nonsense	probably null
R1918:Mthfd1	UTSW	12	76,361,750 (GRCm39)	missense	probably damaging	1.00
R2008:Mthfd1	UTSW	12	76,344,293 (GRCm39)	missense	probably damaging	1.00
R2280:Mthfd1	UTSW	12	76,327,266 (GRCm39)	missense	probably benign	0.37
R2857:Mthfd1	UTSW	12	76,335,699 (GRCm39)	missense	probably damaging	0.99
R2859:Mthfd1	UTSW	12	76,335,699 (GRCm39)	missense	probably damaging	0.99
R2997:Mthfd1	UTSW	12	76,361,810 (GRCm39)	missense	probably benign	0.01
R3034:Mthfd1	UTSW	12	76,336,244 (GRCm39)	missense	probably benign	0.04
R3153:Mthfd1	UTSW	12	76,358,737 (GRCm39)	missense	probably benign
R3412:Mthfd1	UTSW	12	76,350,523 (GRCm39)	splice site	probably null
R4135:Mthfd1	UTSW	12	76,329,648 (GRCm39)	splice site	probably null
R4245:Mthfd1	UTSW	12	76,348,047 (GRCm39)	missense	probably damaging	0.99
R4498:Mthfd1	UTSW	12	76,361,764 (GRCm39)	missense	probably damaging	1.00
R4573:Mthfd1	UTSW	12	76,340,912 (GRCm39)	critical splice acceptor site	probably null
R5022:Mthfd1	UTSW	12	76,341,148 (GRCm39)	missense	probably damaging	1.00
R5022:Mthfd1	UTSW	12	76,348,102 (GRCm39)	missense	probably damaging	1.00
R5037:Mthfd1	UTSW	12	76,340,914 (GRCm39)	missense	probably damaging	1.00
R5455:Mthfd1	UTSW	12	76,348,062 (GRCm39)	missense	probably benign	0.20
R5879:Mthfd1	UTSW	12	76,340,992 (GRCm39)	missense	probably benign	0.00
R6119:Mthfd1	UTSW	12	76,350,447 (GRCm39)	missense	probably damaging	1.00
R6199:Mthfd1	UTSW	12	76,350,454 (GRCm39)	missense	probably damaging	1.00
R6199:Mthfd1	UTSW	12	76,335,685 (GRCm39)	missense	probably damaging	1.00
R6931:Mthfd1	UTSW	12	76,350,472 (GRCm39)	missense	probably benign
R7405:Mthfd1	UTSW	12	76,358,648 (GRCm39)	missense	probably damaging	0.98
R7658:Mthfd1	UTSW	12	76,317,209 (GRCm39)	missense	probably damaging	1.00
R8053:Mthfd1	UTSW	12	76,327,282 (GRCm39)	missense	probably damaging	1.00
R8493:Mthfd1	UTSW	12	76,340,929 (GRCm39)	missense	probably damaging	1.00
R8914:Mthfd1	UTSW	12	76,329,710 (GRCm39)	missense	probably benign	0.00
R9002:Mthfd1	UTSW	12	76,350,754 (GRCm39)	missense	probably benign	0.00
R9003:Mthfd1	UTSW	12	76,350,754 (GRCm39)	missense	probably benign	0.00
R9004:Mthfd1	UTSW	12	76,350,754 (GRCm39)	missense	probably benign	0.00
R9019:Mthfd1	UTSW	12	76,350,754 (GRCm39)	missense	probably benign	0.00
R9103:Mthfd1	UTSW	12	76,350,517 (GRCm39)	missense	probably damaging	1.00
R9136:Mthfd1	UTSW	12	76,350,649 (GRCm39)	missense	probably damaging	0.97
X0012:Mthfd1	UTSW	12	76,361,182 (GRCm39)	missense	possibly damaging	0.75
Z1176:Mthfd1	UTSW	12	76,350,741 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCAGGGTCAAGGGTCAGTTATATG -3'
(R):5'- TGTCTGAAGCAAACATTTCAGC -3'

Sequencing Primer
(F):5'- CTGTACCTGGGGCTAACTTACAG -3'
(R):5'- TTTCAGCTATCTAAACCAGCCAAAG -3'

Posted On

2017-02-15