Mutagenetix > Incidental Mutation

Incidental Mutation 'R8053:Mthfd1'

619207

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

067490-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76302072-76366577 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76327282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 123 (D123E)

Ref Sequence

ENSEMBL: ENSMUSP00000021443 (fasta)

Gene Model

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

AlphaFold

Q922D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021443
AA Change: D123E

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

SMART Domains

Protein: ENSMUSP00000021443
Gene: ENSMUSG00000021048
AA Change: D123E

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

probably benign
Transcript: ENSMUST00000220046

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	T	12: 18,583,728 (GRCm39)	R263*	probably null	Het
Abca12	G	A	1: 71,388,328 (GRCm39)	R181*	probably null	Het
Adar	T	C	3: 89,654,592 (GRCm39)	L908P	probably damaging	Het
Ankrd55	C	T	13: 112,459,687 (GRCm39)	R94C	probably damaging	Het
Aopep	A	T	13: 63,338,345 (GRCm39)	K574*	probably null	Het
Carf	A	T	1: 60,167,197 (GRCm39)	T177S	probably benign	Het
Ccdc162	C	A	10: 41,520,577 (GRCm39)	G693V	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Chd4	G	T	6: 125,105,779 (GRCm39)	E1799*	probably null	Het
Chrna3	T	A	9: 54,922,674 (GRCm39)	N378I	probably benign	Het
Clec4a2	T	C	6: 123,104,998 (GRCm39)	V96A	probably benign	Het
Cntnap5b	T	A	1: 100,318,402 (GRCm39)	L683Q	probably damaging	Het
Crisp4	T	A	1: 18,194,498 (GRCm39)	Q208L	probably benign	Het
Crocc	A	G	4: 140,770,230 (GRCm39)		probably null	Het
Cyp2ab1	T	C	16: 20,133,018 (GRCm39)	E192G	probably benign	Het
Cyrib	T	C	15: 63,813,832 (GRCm39)	D155G	probably damaging	Het
Daglb	A	G	5: 143,489,024 (GRCm39)	K627R	probably benign	Het
Desi2	G	A	1: 178,065,482 (GRCm39)	W16*	probably null	Het
Dtx3l	T	C	16: 35,759,322 (GRCm39)		probably benign	Het
Elf2	A	G	3: 51,215,551 (GRCm39)	V53A	possibly damaging	Het
Eomes	A	G	9: 118,309,621 (GRCm39)	D325G	probably damaging	Het
Etl4	A	T	2: 20,666,774 (GRCm39)	L60F	probably damaging	Het
Exoc4	A	G	6: 33,309,191 (GRCm39)	D271G	probably benign	Het
F5	A	G	1: 164,020,338 (GRCm39)	I938V	probably benign	Het
Fdxr	T	A	11: 115,160,665 (GRCm39)	K290M	probably benign	Het
Fgd5	G	A	6: 91,966,425 (GRCm39)	S886N	probably benign	Het
Gm11595	G	A	11: 99,662,954 (GRCm39)	S242F	unknown	Het
Gm14322	A	T	2: 177,411,424 (GRCm39)	Q78L	probably damaging	Het
Gm8267	A	T	14: 44,962,307 (GRCm39)	S38T	possibly damaging	Het
Gpr75	A	T	11: 30,841,559 (GRCm39)	T155S	probably benign	Het
Hectd3	T	C	4: 116,858,055 (GRCm39)	S628P	possibly damaging	Het
Hrh2	A	G	13: 54,368,104 (GRCm39)	T27A	probably benign	Het
Kif16b	G	A	2: 142,695,634 (GRCm39)	R157C	probably damaging	Het
Krt16	T	C	11: 100,137,613 (GRCm39)	Y364C	probably damaging	Het
Lrrc37	T	A	11: 103,495,392 (GRCm39)	K2809I	unknown	Het
Map2k5	T	A	9: 63,250,707 (GRCm39)	N95I	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Muc2	A	T	7: 141,284,575 (GRCm39)	Y827F	probably benign	Het
Myh15	T	A	16: 48,963,302 (GRCm39)	M1081K	possibly damaging	Het
Nbeal1	A	G	1: 60,318,954 (GRCm39)	T1998A	probably damaging	Het
Neb	T	A	2: 52,176,029 (GRCm39)	T1477S	possibly damaging	Het
Nox4	C	A	7: 87,019,255 (GRCm39)	P416Q	probably damaging	Het
Or10ak7	A	G	4: 118,791,308 (GRCm39)	S246P	probably damaging	Het
Or1e31	T	C	11: 73,689,822 (GRCm39)	T254A	probably benign	Het
Or2j3	A	T	17: 38,616,101 (GRCm39)	F84I	probably benign	Het
Or4c123	A	T	2: 89,127,540 (GRCm39)	F25I	possibly damaging	Het
Or5g23	T	C	2: 85,439,234 (GRCm39)	T7A	probably damaging	Het
Pcdhga4	A	G	18: 37,819,308 (GRCm39)	K286E	probably benign	Het
Pde10a	A	G	17: 9,193,604 (GRCm39)	T679A	probably benign	Het
Phc2	C	T	4: 128,603,433 (GRCm39)	Q188*	probably null	Het
Pramel12	C	A	4: 143,144,208 (GRCm39)	Q185K	probably benign	Het
Prdm15	A	G	16: 97,636,807 (GRCm39)	M170T	probably benign	Het
Rab20	G	T	8: 11,504,443 (GRCm39)	Q86K	probably damaging	Het
Rev1	T	C	1: 38,102,222 (GRCm39)	I714V	possibly damaging	Het
Rexo2	A	G	9: 48,386,418 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,293,473 (GRCm39)	K75E		Het
Sdk2	C	T	11: 113,745,177 (GRCm39)	R706Q	probably damaging	Het
Sema3c	C	T	5: 17,860,020 (GRCm39)	T95I	probably benign	Het
Sh3rf2	T	A	18: 42,286,087 (GRCm39)	S527T	probably damaging	Het
Sis	A	T	3: 72,856,901 (GRCm39)	Y434*	probably null	Het
Slc16a6	G	A	11: 109,349,395 (GRCm39)	T222I	probably damaging	Het
Smad6	A	G	9: 63,927,789 (GRCm39)	L173P	probably damaging	Het
Sugct	T	A	13: 17,476,554 (GRCm39)	N310I	probably damaging	Het
Syne1	T	A	10: 5,002,658 (GRCm39)	K259*	probably null	Het
Taar6	A	G	10: 23,861,144 (GRCm39)	V134A	possibly damaging	Het
Tmem199	A	G	11: 78,398,612 (GRCm39)	I184T	possibly damaging	Het
Tnrc18	G	T	5: 142,736,385 (GRCm39)	D1530E	unknown	Het
Tnxb	G	A	17: 34,923,153 (GRCm39)	V2579M	probably damaging	Het
Vangl2	A	G	1: 171,832,303 (GRCm39)	F518L	probably damaging	Het
Vmn2r40	T	C	7: 8,911,245 (GRCm39)	T683A		Het
Wapl	C	T	14: 34,414,278 (GRCm39)	T380I	probably damaging	Het
Zfp874b	A	T	13: 67,622,217 (GRCm39)	H360Q	probably 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
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	76,341,148 (GRCm39)	missense	probably damaging	1.00
R5022:Mthfd1	UTSW	12	76,348,102 (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
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'- GGCTGAGATACACTTTGCAGAC -3'
(R):5'- AGTCATTTAGATCACCTCTGGCG -3'

Sequencing Primer
(F):5'- TCCTTTCAGTGTCTGTGATTAATTAG -3'
(R):5'- AGATCACCTCTGGCGAGCTTC -3'

Posted On

2020-01-23