Mutagenetix > Incidental Mutation

Incidental Mutation 'R7823:Mthfr'

601992

Institutional Source

Beutler Lab

Gene Symbol

Mthfr

Ensembl Gene

ENSMUSG00000029009

Gene Name

methylenetetrahydrofolate reductase

Synonyms

MMRRC Submission

045877-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R7823 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

148123534-148144008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148135944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 314 (I314T)

Ref Sequence

ENSEMBL: ENSMUSP00000117095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069604] [ENSMUST00000097788] [ENSMUST00000152498]

AlphaFold

Q9WU20

Predicted Effect

probably benign
Transcript: ENSMUST00000069604
AA Change: I339T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000069774
Gene: ENSMUSG00000029009
AA Change: I339T

Domain	Start	End	E-Value	Type
low complexity region	48	73	N/A	INTRINSIC
Pfam:MTHFR	88	377	2.3e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097788
AA Change: I298T

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095395
Gene: ENSMUSG00000029009
AA Change: I298T

Domain	Start	End	E-Value	Type
low complexity region	7	32	N/A	INTRINSIC
Pfam:MTHFR	47	336	5.9e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152498
AA Change: I314T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117095
Gene: ENSMUSG00000029009
AA Change: I314T

Domain	Start	End	E-Value	Type
low complexity region	23	48	N/A	INTRINSIC
Pfam:MTHFR	63	352	2.4e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156113

Meta Mutation Damage Score

0.5039

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,771,484 (GRCm39)	V869A	probably benign	Het
Alox15	C	A	11: 70,235,494 (GRCm39)	V623L	possibly damaging	Het
Angpt4	T	G	2: 151,753,286 (GRCm39)	L12R	unknown	Het
Cdh24	C	T	14: 54,874,875 (GRCm39)	A42T	probably damaging	Het
Cep250	T	A	2: 155,807,336 (GRCm39)	S234T	possibly damaging	Het
Clnk	T	A	5: 38,907,694 (GRCm39)	Y188F	probably benign	Het
Csmd2	A	T	4: 128,103,698 (GRCm39)	T306S		Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dgka	T	A	10: 128,572,135 (GRCm39)	Y50F	probably benign	Het
Dgkh	C	T	14: 78,841,921 (GRCm39)	V434I	probably benign	Het
Epb41	A	G	4: 131,701,993 (GRCm39)		probably null	Het
Fam220a	A	G	5: 143,549,011 (GRCm39)	D141G	probably damaging	Het
Fbxo11	A	G	17: 88,300,610 (GRCm39)	L807S	probably damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Ggt1	G	A	10: 75,410,175 (GRCm39)	V36M	possibly damaging	Het
Gjb2	T	C	14: 57,337,963 (GRCm39)	I82V	probably benign	Het
Gm7579	T	A	7: 141,766,307 (GRCm39)	C238S	unknown	Het
Hps1	G	A	19: 42,744,146 (GRCm39)	T681M	possibly damaging	Het
Iqck	T	C	7: 118,472,046 (GRCm39)	Y64H	probably damaging	Het
Ldlr	G	A	9: 21,653,602 (GRCm39)		probably null	Het
Macc1	A	C	12: 119,410,800 (GRCm39)	K523Q	probably damaging	Het
Mon2	A	T	10: 122,868,559 (GRCm39)	I498N	probably damaging	Het
Mphosph9	T	C	5: 124,442,319 (GRCm39)	E373G	probably damaging	Het
Mtmr4	T	G	11: 87,503,015 (GRCm39)	I1023S	probably damaging	Het
Myo9a	T	A	9: 59,719,233 (GRCm39)	F507I	probably damaging	Het
Nlrp10	T	A	7: 108,523,468 (GRCm39)	M671L	probably benign	Het
Nt5c1a	T	C	4: 123,102,365 (GRCm39)	V97A	probably damaging	Het
Nxpe5	A	G	5: 138,237,844 (GRCm39)	R123G	possibly damaging	Het
Obscn	T	C	11: 58,998,766 (GRCm39)	S1369G	probably damaging	Het
Oga	A	G	19: 45,765,354 (GRCm39)	V151A	possibly damaging	Het
Or4a75	A	G	2: 89,447,613 (GRCm39)	*308Q	probably null	Het
Or52m2	A	G	7: 102,264,164 (GRCm39)	S11P	probably benign	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Or6c33	T	A	10: 129,854,136 (GRCm39)	M302K	probably benign	Het
Or6k2	A	G	1: 173,987,254 (GRCm39)	K305R	probably benign	Het
Or8b57	A	T	9: 40,003,644 (GRCm39)	V202E	probably damaging	Het
Pak6	G	A	2: 118,525,793 (GRCm39)	A618T	probably benign	Het
Pax7	T	A	4: 139,468,150 (GRCm39)	E489V	probably benign	Het
Phactr4	G	A	4: 132,088,930 (GRCm39)	R651*	probably null	Het
Pik3c2b	C	T	1: 133,030,043 (GRCm39)	R1435C	probably damaging	Het
Pla2g4c	A	T	7: 13,063,944 (GRCm39)	I68F	probably damaging	Het
Plppr1	A	G	4: 49,325,703 (GRCm39)	M300V	probably benign	Het
Ptgfrn	C	T	3: 100,950,725 (GRCm39)	V863I	probably damaging	Het
Rabep2	T	C	7: 126,037,893 (GRCm39)	S222P	probably damaging	Het
Ramacl	A	G	13: 67,055,351 (GRCm39)		probably benign	Het
Rbm20	A	T	19: 53,831,785 (GRCm39)	D673V	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scn4a	C	A	11: 106,233,334 (GRCm39)	A413S	probably damaging	Het
Scn9a	A	T	2: 66,314,135 (GRCm39)	M1850K	probably damaging	Het
Sh3tc2	T	A	18: 62,086,188 (GRCm39)	M1K	probably null	Het
Slc22a28	G	A	19: 8,041,890 (GRCm39)	T439I	probably benign	Het
Slc25a36	A	G	9: 96,966,444 (GRCm39)		probably null	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata3	T	C	1: 85,949,781 (GRCm39)		probably benign	Het
Srp68	C	T	11: 116,156,265 (GRCm39)	R159Q	probably damaging	Het
Ssbp2	C	A	13: 91,790,448 (GRCm39)	L104I	possibly damaging	Het
St8sia3	T	A	18: 64,400,027 (GRCm39)	F7L	probably benign	Het
Stard9	T	C	2: 120,532,587 (GRCm39)	V2948A	probably damaging	Het
Syne4	A	G	7: 30,018,280 (GRCm39)	T341A	probably benign	Het
Tcf7l2	T	A	19: 55,731,521 (GRCm39)	D91E	possibly damaging	Het
Tekt5	T	A	16: 10,203,943 (GRCm39)	I236F	probably damaging	Het
Tlk2	T	C	11: 105,144,133 (GRCm39)	Y316H	probably damaging	Het
Tmem184b	C	T	15: 79,249,491 (GRCm39)	A326T	probably benign	Het
Tnks2	G	A	19: 36,829,954 (GRCm39)		probably null	Het
Trpc4	C	A	3: 54,209,640 (GRCm39)	Y668*	probably null	Het
Ttc9c	A	T	19: 8,793,286 (GRCm39)	F118Y	probably benign	Het
Ulk1	C	T	5: 110,946,780 (GRCm39)	C95Y	probably damaging	Het
Vars2	A	C	17: 35,970,028 (GRCm39)	L787R	probably damaging	Het
Vwa3a	T	C	7: 120,372,185 (GRCm39)	S254P	probably damaging	Het
Wdr81	T	C	11: 75,340,627 (GRCm39)	Y1250C	probably damaging	Het
Xirp2	A	T	2: 67,342,118 (GRCm39)	D1453V	probably damaging	Het
Zbtb38	A	T	9: 96,568,029 (GRCm39)	C1018*	probably null	Het
Zfp622	C	T	15: 25,984,709 (GRCm39)	T25M	probably damaging	Het

Other mutations in Mthfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Mthfr	APN	4	148,125,727 (GRCm39)	missense	probably benign
IGL00911:Mthfr	APN	4	148,125,759 (GRCm39)	missense	probably benign	0.01
R0116:Mthfr	UTSW	4	148,135,980 (GRCm39)	missense	probably benign	0.00
R0207:Mthfr	UTSW	4	148,136,681 (GRCm39)	missense	probably damaging	1.00
R0268:Mthfr	UTSW	4	148,139,885 (GRCm39)	missense	probably damaging	1.00
R0344:Mthfr	UTSW	4	148,139,885 (GRCm39)	missense	probably damaging	1.00
R0762:Mthfr	UTSW	4	148,139,900 (GRCm39)	missense	possibly damaging	0.65
R1433:Mthfr	UTSW	4	148,139,900 (GRCm39)	missense	possibly damaging	0.92
R1464:Mthfr	UTSW	4	148,138,029 (GRCm39)	splice site	probably benign
R1972:Mthfr	UTSW	4	148,136,384 (GRCm39)	missense	probably damaging	1.00
R3154:Mthfr	UTSW	4	148,136,061 (GRCm39)	missense	probably benign	0.12
R3407:Mthfr	UTSW	4	148,139,518 (GRCm39)	missense	probably damaging	1.00
R3773:Mthfr	UTSW	4	148,128,907 (GRCm39)	missense	probably benign	0.00
R4153:Mthfr	UTSW	4	148,135,932 (GRCm39)	missense	probably damaging	0.99
R4291:Mthfr	UTSW	4	148,139,949 (GRCm39)	missense	probably damaging	1.00
R4487:Mthfr	UTSW	4	148,135,884 (GRCm39)	missense	probably benign	0.00
R4574:Mthfr	UTSW	4	148,127,998 (GRCm39)	missense	possibly damaging	0.95
R4583:Mthfr	UTSW	4	148,136,329 (GRCm39)	missense	possibly damaging	0.80
R4847:Mthfr	UTSW	4	148,132,596 (GRCm39)	missense	probably damaging	0.99
R5183:Mthfr	UTSW	4	148,135,817 (GRCm39)	splice site	probably null
R5536:Mthfr	UTSW	4	148,128,940 (GRCm39)	missense	probably damaging	1.00
R5664:Mthfr	UTSW	4	148,139,923 (GRCm39)	missense	probably damaging	1.00
R6161:Mthfr	UTSW	4	148,126,211 (GRCm39)	missense	probably benign	0.35
R7285:Mthfr	UTSW	4	148,138,056 (GRCm39)	missense	probably benign	0.01
R7427:Mthfr	UTSW	4	148,136,060 (GRCm39)	missense	probably benign	0.00
R7428:Mthfr	UTSW	4	148,136,060 (GRCm39)	missense	probably benign	0.00
R7474:Mthfr	UTSW	4	148,137,059 (GRCm39)	missense	possibly damaging	0.95
R7826:Mthfr	UTSW	4	148,139,467 (GRCm39)	missense	probably benign	0.00
R7975:Mthfr	UTSW	4	148,127,920 (GRCm39)	missense	probably damaging	1.00
R8669:Mthfr	UTSW	4	148,135,934 (GRCm39)	missense	probably benign	0.21
R8698:Mthfr	UTSW	4	148,128,947 (GRCm39)	nonsense	probably null
R8714:Mthfr	UTSW	4	148,126,275 (GRCm39)	missense	probably damaging	1.00
R8790:Mthfr	UTSW	4	148,139,991 (GRCm39)	missense	probably benign	0.07
R8961:Mthfr	UTSW	4	148,128,099 (GRCm39)	missense	probably damaging	1.00
R8981:Mthfr	UTSW	4	148,139,451 (GRCm39)	missense	probably benign	0.00
R9098:Mthfr	UTSW	4	148,126,082 (GRCm39)	missense	probably benign	0.10
R9221:Mthfr	UTSW	4	148,132,626 (GRCm39)	missense	probably damaging	1.00
R9708:Mthfr	UTSW	4	148,128,978 (GRCm39)	nonsense	probably null
R9781:Mthfr	UTSW	4	148,132,710 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGACTAGCCAAGAGACCAG -3'
(R):5'- CAATGTATGGTTGGTGCTGCAC -3'

Sequencing Primer
(F):5'- CTAGCCAAGAGACCAGGAAGG -3'
(R):5'- TGCGCGACTCTGACTCATG -3'

Posted On

2019-12-03