Mutagenetix > Incidental Mutation

Incidental Mutation 'R0207:Mthfr'

33379

Institutional Source

Beutler Lab

Gene Symbol

Mthfr

Ensembl Gene

ENSMUSG00000029009

Gene Name

methylenetetrahydrofolate reductase

Synonyms

MMRRC Submission

038460-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R0207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148123534-148144008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 148136681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 446 (V446G)

Ref Sequence

ENSEMBL: ENSMUSP00000117095 (fasta)

Gene Model

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

AlphaFold

Q9WU20

Predicted Effect

probably damaging
Transcript: ENSMUST00000069604
AA Change: V471G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069774
Gene: ENSMUSG00000029009
AA Change: V471G

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 damaging
Transcript: ENSMUST00000097788
AA Change: V430G

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

SMART Domains

Protein: ENSMUSP00000095395
Gene: ENSMUSG00000029009
AA Change: V430G

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 damaging
Transcript: ENSMUST00000152498
AA Change: V446G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117095
Gene: ENSMUSG00000029009
AA Change: V446G

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

0.9289

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.5%

Validation Efficiency

95% (76/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,086,039 (GRCm39)	F488S	probably damaging	Het
Acap3	C	T	4: 155,983,881 (GRCm39)	R116W	probably damaging	Het
Adamts10	C	A	17: 33,764,364 (GRCm39)	P663T	possibly damaging	Het
Akap12	G	A	10: 4,303,333 (GRCm39)	G48S	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Ankzf1	C	A	1: 75,174,948 (GRCm39)	D599E	possibly damaging	Het
Aox1	T	C	1: 58,144,173 (GRCm39)	I1278T	possibly damaging	Het
Apcdd1	T	C	18: 63,083,150 (GRCm39)	Y327H	probably benign	Het
Asxl3	T	A	18: 22,544,553 (GRCm39)		probably benign	Het
Birc6	C	A	17: 74,969,827 (GRCm39)		probably benign	Het
Btaf1	T	A	19: 36,987,048 (GRCm39)	L1714*	probably null	Het
Cacng6	T	A	7: 3,473,520 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,215,146 (GRCm39)	D238G	probably damaging	Het
Celf5	T	A	10: 81,306,532 (GRCm39)	R113W	probably null	Het
Cfap251	T	C	5: 123,421,510 (GRCm39)	V182A	probably damaging	Het
Cfap70	C	A	14: 20,462,415 (GRCm39)	E659D	probably damaging	Het
Clspn	T	A	4: 126,484,391 (GRCm39)	M1183K	possibly damaging	Het
Dpy19l1	G	A	9: 24,365,187 (GRCm39)	R275C	probably damaging	Het
Dst	C	T	1: 34,226,016 (GRCm39)	S1721L	probably benign	Het
Faap100	T	C	11: 120,265,191 (GRCm39)	T562A	probably damaging	Het
Fam168b	T	C	1: 34,858,769 (GRCm39)	M133V	probably damaging	Het
Farp2	T	C	1: 93,496,809 (GRCm39)	I172T	probably damaging	Het
Fer	T	G	17: 64,203,273 (GRCm39)	S68A	probably damaging	Het
Fmo5	A	G	3: 97,552,997 (GRCm39)	E315G	probably damaging	Het
Gpr89	A	T	3: 96,778,796 (GRCm39)	F426I	probably damaging	Het
Hinfp	T	C	9: 44,207,624 (GRCm39)	I461V	possibly damaging	Het
Hsd11b1	A	T	1: 192,922,556 (GRCm39)	V167D	probably damaging	Het
Htt	A	G	5: 35,054,252 (GRCm39)	K2574E	probably benign	Het
I830077J02Rik	A	G	3: 105,833,821 (GRCm39)	S112P	probably benign	Het
Igf2bp3	T	A	6: 49,082,551 (GRCm39)	M344L	probably benign	Het
Itch	A	T	2: 155,044,177 (GRCm39)	Q494L	probably benign	Het
Itga9	T	C	9: 118,598,321 (GRCm39)		probably benign	Het
Jaml	T	A	9: 45,005,065 (GRCm39)	D152E	probably benign	Het
Kif22	A	C	7: 126,641,572 (GRCm39)	M1R	probably null	Het
Kifap3	T	C	1: 163,710,955 (GRCm39)	Y663H	probably benign	Het
Letm2	T	A	8: 26,068,786 (GRCm39)	N472I	probably damaging	Het
Myh11	T	C	16: 14,029,124 (GRCm39)	E1206G	possibly damaging	Het
Myo6	G	A	9: 80,195,338 (GRCm39)	V903I	probably damaging	Het
Myo9b	C	T	8: 71,807,869 (GRCm39)		probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Nsd3	A	G	8: 26,173,273 (GRCm39)	N859S	probably benign	Het
Nucb2	C	A	7: 116,135,245 (GRCm39)	A384E	probably damaging	Het
Ogdhl	C	A	14: 32,063,994 (GRCm39)		probably null	Het
Or10al3	C	A	17: 38,011,949 (GRCm39)	C129*	probably null	Het
Or1e22	A	T	11: 73,377,401 (GRCm39)	L83Q	probably benign	Het
Or1i2	T	C	10: 78,447,705 (GRCm39)	T257A	probably benign	Het
Or4a74	G	A	2: 89,440,207 (GRCm39)	L80F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp10	C	T	15: 76,126,833 (GRCm39)	S145N	probably benign	Het
Pigh	A	G	12: 79,130,483 (GRCm39)		probably benign	Het
Pigo	A	G	4: 43,023,824 (GRCm39)		probably benign	Het
Pkp4	T	A	2: 59,135,832 (GRCm39)	V199D	possibly damaging	Het
Polr1e	C	A	4: 45,025,143 (GRCm39)		probably null	Het
Ppfia3	C	A	7: 44,997,958 (GRCm39)	R723L	probably damaging	Het
Prex1	C	A	2: 166,427,818 (GRCm39)	A945S	possibly damaging	Het
Prrt3	A	T	6: 113,472,801 (GRCm39)	V457E	probably damaging	Het
Rab39	A	G	9: 53,617,271 (GRCm39)	F49L	possibly damaging	Het
Rrs1	C	A	1: 9,615,987 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Serpinb3c	T	C	1: 107,204,722 (GRCm39)	D8G	probably benign	Het
Slc17a6	A	G	7: 51,295,928 (GRCm39)		probably benign	Het
Slc24a4	T	A	12: 102,195,210 (GRCm39)		probably null	Het
Smc1b	C	T	15: 85,007,960 (GRCm39)	M272I	probably benign	Het
Smc6	T	C	12: 11,333,179 (GRCm39)		probably benign	Het
Tcf20	T	C	15: 82,739,286 (GRCm39)	T722A	probably benign	Het
Tesmin	A	T	19: 3,454,088 (GRCm39)	M141L	probably benign	Het
Tmprss5	T	A	9: 49,024,460 (GRCm39)	H274Q	possibly damaging	Het
Tns1	C	T	1: 73,976,477 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,293,178 (GRCm39)	S868P	possibly damaging	Het
Trank1	C	T	9: 111,195,321 (GRCm39)	T1115I	probably damaging	Het
Trmt44	A	T	5: 35,730,261 (GRCm39)	I203K	possibly damaging	Het
Ulk2	A	T	11: 61,668,611 (GRCm39)	V1037E	probably benign	Het
Usp43	A	G	11: 67,767,325 (GRCm39)	Y682H	probably damaging	Het
Vipr2	A	T	12: 116,106,502 (GRCm39)	Q366L	probably damaging	Het
Vmn1r185	C	A	7: 26,311,014 (GRCm39)	V164L	possibly damaging	Het
Vmn2r120	C	T	17: 57,832,052 (GRCm39)	V246I	probably benign	Het
Wiz	C	T	17: 32,576,007 (GRCm39)	G790R	probably damaging	Het
Wnk1	A	T	6: 119,929,694 (GRCm39)	S1016R	probably damaging	Het
Zc3hav1	A	G	6: 38,288,109 (GRCm39)	L909S	probably benign	Het
Zfp236	T	A	18: 82,658,352 (GRCm39)	I637F	probably damaging	Het
Zfp788	G	A	7: 41,299,020 (GRCm39)	G532D	probably damaging	Het
Zranb1	T	C	7: 132,552,114 (GRCm39)	I255T	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
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
R7823:Mthfr	UTSW	4	148,135,944 (GRCm39)	missense	probably benign	0.29
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'- TACATCTACCGCACACAGGACTGG -3'
(R):5'- AGGCGCACATCTCATATAGGGGAG -3'

Sequencing Primer
(F):5'- CAGGACTGGGATGAGTTTCCTAAC -3'
(R):5'- CACATCTCATATAGGGGAGATAGCTC -3'

Posted On

2013-05-09