Mutagenetix > Incidental Mutation

Incidental Mutation 'R9781:Mthfr'

734038

Institutional Source

Beutler Lab

Gene Symbol

Mthfr

Ensembl Gene

ENSMUSG00000029009

Gene Name

methylenetetrahydrofolate reductase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R9781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148123534-148144008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148132710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 296 (I296T)

Ref Sequence

ENSEMBL: ENSMUSP00000069774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069604] [ENSMUST00000097788] [ENSMUST00000141283] [ENSMUST00000152498]

AlphaFold

Q9WU20

Predicted Effect

probably damaging
Transcript: ENSMUST00000069604
AA Change: I296T

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

SMART Domains

Protein: ENSMUSP00000069774
Gene: ENSMUSG00000029009
AA Change: I296T

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: I255T

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

SMART Domains

Protein: ENSMUSP00000095395
Gene: ENSMUSG00000029009
AA Change: I255T

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: ENSMUST00000141283

SMART Domains

Protein: ENSMUSP00000116239
Gene: ENSMUSG00000029009

Domain	Start	End	E-Value	Type
low complexity region	7	32	N/A	INTRINSIC
Pfam:MTHFR	47	194	7.4e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000152498
AA Change: I271T

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

SMART Domains

Protein: ENSMUSP00000117095
Gene: ENSMUSG00000029009
AA Change: I271T

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,519,860 (GRCm39)	F1386L	probably benign	Het
Aoc1l2	G	A	6: 48,907,660 (GRCm39)	S220N	possibly damaging	Het
Ap3d1	A	C	10: 80,545,609 (GRCm39)	L1040R	possibly damaging	Het
Bag4	T	A	8: 26,259,564 (GRCm39)	N212Y	probably damaging	Het
Bop1	A	T	15: 76,338,041 (GRCm39)	S610T	probably damaging	Het
Car12	T	G	9: 66,624,844 (GRCm39)	S30A	probably benign	Het
Ccdc14	A	T	16: 34,543,984 (GRCm39)	T829S	possibly damaging	Het
Ccn6	T	A	10: 39,027,167 (GRCm39)	*355L	probably null	Het
Cdc14a	A	T	3: 116,122,274 (GRCm39)	I231N	probably benign	Het
Ceacam14	A	T	7: 17,549,082 (GRCm39)	I158F	possibly damaging	Het
Clca4a	G	T	3: 144,667,713 (GRCm39)	S419R	probably benign	Het
Clec2g	A	G	6: 128,960,012 (GRCm39)	N258D	probably benign	Het
Cntn5	A	C	9: 10,048,686 (GRCm39)		probably null	Het
Col5a3	T	A	9: 20,721,272 (GRCm39)	S72C	unknown	Het
Dmbt1	G	C	7: 130,639,599 (GRCm39)	V46L	probably benign	Het
Dnah7b	A	G	1: 46,376,754 (GRCm39)		probably null	Het
Dnase1	T	C	16: 3,857,054 (GRCm39)	S204P	probably benign	Het
Dnhd1	A	G	7: 105,352,917 (GRCm39)	E2690G	probably benign	Het
Dst	T	C	1: 34,218,075 (GRCm39)	L1505P	probably benign	Het
Dzip1	G	A	14: 119,148,834 (GRCm39)	L282F	probably benign	Het
E330034G19Rik	A	G	14: 24,359,528 (GRCm39)	E313G	unknown	Het
Epc1	A	T	18: 6,455,187 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,280,004 (GRCm39)	M304T	probably benign	Het
Herc2	A	T	7: 55,750,096 (GRCm39)	I594F	possibly damaging	Het
Hivep2	T	A	10: 14,005,828 (GRCm39)	S809T	probably benign	Het
Hnrnph3	A	T	10: 62,853,861 (GRCm39)	M132K	unknown	Het
Hrnr	A	T	3: 93,239,696 (GRCm39)	R3311S	unknown	Het
Jph3	T	C	8: 122,457,380 (GRCm39)	F7L	probably damaging	Het
Med13l	C	T	5: 118,868,032 (GRCm39)	T732M	possibly damaging	Het
Mocos	A	T	18: 24,828,939 (GRCm39)	H748L	probably benign	Het
Mrc1	A	G	2: 14,249,100 (GRCm39)	H212R	probably benign	Het
Mrc1	A	T	2: 14,310,175 (GRCm39)	Y812F	possibly damaging	Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Nefh	G	A	11: 4,895,271 (GRCm39)	T306I	probably damaging	Het
Nme7	C	A	1: 164,155,890 (GRCm39)	A30E	possibly damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Pappa	T	A	4: 65,043,104 (GRCm39)	L109Q	possibly damaging	Het
Pcdha2	A	G	18: 37,074,102 (GRCm39)	S578G	probably benign	Het
Pcf11	A	T	7: 92,297,228 (GRCm39)	D1361E	possibly damaging	Het
Pcm1	T	C	8: 41,720,398 (GRCm39)	S320P	probably damaging	Het
Pex19	T	A	1: 171,956,855 (GRCm39)	F105Y	probably damaging	Het
Pgap4	C	T	4: 49,586,890 (GRCm39)	V93I	probably benign	Het
Pggt1b	A	T	18: 46,392,779 (GRCm39)	M124K	probably damaging	Het
Phkg1	T	A	5: 129,895,807 (GRCm39)	H148L	probably damaging	Het
Phlpp2	G	T	8: 110,662,178 (GRCm39)	R855L	possibly damaging	Het
Pkhd1	T	A	1: 20,187,665 (GRCm39)	I3548L	possibly damaging	Het
Plce1	T	G	19: 38,513,654 (GRCm39)	S318A	probably damaging	Het
Plcxd2	A	G	16: 45,830,117 (GRCm39)	W35R	probably benign	Het
Prl2b1	T	A	13: 27,569,129 (GRCm39)	E156D	possibly damaging	Het
Ptpn21	A	G	12: 98,655,170 (GRCm39)	V599A	probably damaging	Het
Raly	T	C	2: 154,699,265 (GRCm39)	V23A	probably damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rhbdl1	A	G	17: 26,055,443 (GRCm39)	V48A	probably benign	Het
Rhpn1	C	T	15: 75,582,543 (GRCm39)	Q212*	probably null	Het
Sec24b	G	T	3: 129,789,742 (GRCm39)	P760T	probably damaging	Het
Septin8	C	A	11: 53,422,889 (GRCm39)	Q33K	probably damaging	Het
Serpinb6a	T	C	13: 34,109,346 (GRCm39)	T150A	probably benign	Het
Shmt1	A	T	11: 60,692,329 (GRCm39)	H142Q	probably damaging	Het
Slc27a3	G	A	3: 90,296,591 (GRCm39)	S127L		Het
Slc4a5	G	A	6: 83,239,466 (GRCm39)	A242T	probably benign	Het
Sphkap	G	A	1: 83,255,772 (GRCm39)	T659I	possibly damaging	Het
Ssbp3	T	C	4: 106,905,224 (GRCm39)	S381P	probably damaging	Het
Stxbp5l	C	T	16: 37,165,485 (GRCm39)	D78N	probably benign	Het
Suv39h2	G	T	2: 3,463,631 (GRCm39)	Q362K	probably benign	Het
Tcerg1	G	A	18: 42,701,030 (GRCm39)	R828Q	probably damaging	Het
Tgm2	T	G	2: 157,971,321 (GRCm39)	D306A	probably damaging	Het
Tmem79	A	G	3: 88,239,931 (GRCm39)	C260R	possibly damaging	Het
Ubn2	C	A	6: 38,466,190 (GRCm39)	A508E	probably benign	Het
Uggt2	T	A	14: 119,232,384 (GRCm39)	H1489L	possibly damaging	Het
Wnt16	T	C	6: 22,291,114 (GRCm39)	F181L	probably damaging	Het
Zfp326	T	C	5: 106,062,825 (GRCm39)	F565L	unknown	Het
Zfp62	T	A	11: 49,106,297 (GRCm39)	C129*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TTGAGCAGGTAGGTTGAGACC -3'
(R):5'- CGTACAAGCCCTTGACAGAC -3'

Sequencing Primer
(F):5'- TAGGTTACCCCAGAGGCCAC -3'
(R):5'- AGACACCATTGCTGTCCAGG -3'

Posted On

2022-11-14