Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Mthfd1'

219279

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

040017-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76302072-76366577 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76344293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 331 (T331K)

Ref Sequence

ENSEMBL: ENSMUSP00000151500 (fasta)

Gene Model

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

AlphaFold

Q922D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021443
AA Change: T511K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021443
Gene: ENSMUSG00000021048
AA Change: T511K

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

noncoding transcript
Transcript: ENSMUST00000218513

Predicted Effect

probably damaging
Transcript: ENSMUST00000220046
AA Change: T331K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly damaging	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
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	76,348,102 (GRCm39)	missense	probably damaging	1.00
R5022:Mthfd1	UTSW	12	76,341,148 (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
R5902:Mthfd1	UTSW	12	76,337,826 (GRCm39)	missense	probably benign	0.01
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'- ATTCCAAGGGTGTGCCACAG -3'
(R):5'- AGGGACATCTACATTGCAGC -3'

Sequencing Primer
(F):5'- CTTGAAGCAACTGGTAGCTGTCAC -3'
(R):5'- GGACATCTACATTGCAGCTAAGGC -3'

Posted On

2014-08-25