Mutagenetix > Incidental Mutation

Incidental Mutation 'R0062:Mthfd1'

46641

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

038354-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0062 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

76302072-76366577 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 76344363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151500 (fasta)

Gene Model

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

AlphaFold

Q922D8

Predicted Effect

probably benign
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: ENSMUST00000218331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218513

Predicted Effect

probably benign
Transcript: ENSMUST00000220046

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (70/70)

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
4921513I03Rik	G	T	10: 120,614,511 (GRCm39)		probably benign	Het
4930407I10Rik	T	A	15: 81,947,267 (GRCm39)	I388K	probably benign	Het
4930407I10Rik	T	A	15: 81,950,504 (GRCm39)	V1467D	probably damaging	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Aqp11	C	T	7: 97,387,068 (GRCm39)	V43M	probably benign	Het
Arhgef10l	A	T	4: 140,279,843 (GRCm39)	L503Q	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Crybg1	G	T	10: 43,873,902 (GRCm39)	Q1069K	probably damaging	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dnmt3b	C	T	2: 153,514,192 (GRCm39)	P382S	probably benign	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,475,989 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,305,624 (GRCm39)	E250G	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fetub	T	C	16: 22,747,836 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gm9637	G	T	14: 19,402,570 (GRCm38)		noncoding transcript	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mef2c	A	G	13: 83,800,992 (GRCm39)	N231D	possibly damaging	Het
Mtdh	T	A	15: 34,134,426 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Noc3l	T	C	19: 38,803,253 (GRCm39)	S129G	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or10ak14	T	C	4: 118,611,100 (GRCm39)	I212V	probably benign	Het
Or2aj6	T	C	16: 19,443,167 (GRCm39)	M228V	probably benign	Het
Or4c118	T	C	2: 88,974,966 (GRCm39)	I134V	possibly damaging	Het
Or8b1c	T	A	9: 38,384,554 (GRCm39)	D170E	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Pja2	C	A	17: 64,615,966 (GRCm39)	V310L	probably damaging	Het
Plcd3	G	A	11: 102,965,720 (GRCm39)	A504V	probably benign	Het
Rint1	G	A	5: 23,992,826 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc7a6	G	T	8: 106,916,263 (GRCm39)	V180L	possibly damaging	Het
Slc7a6	T	A	8: 106,916,264 (GRCm39)	V180E	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,806,456 (GRCm39)	T114I	possibly damaging	Het
Zc3h7a	T	C	16: 10,957,011 (GRCm39)	N866S	probably damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	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
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	76,348,102 (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'- TGGATTTAAGACGCTGCCATTCCAA -3'
(R):5'- TGCATGAACTCCCCTGAAATCCTCA -3'

Sequencing Primer
(F):5'- tggtttggtttggtttggtttg -3'
(R):5'- GAAATCCTCATTTCAATCAACACTG -3'

Posted On

2013-06-11