Mutagenetix > Incidental Mutation

Incidental Mutation 'R0012:Mthfd2l'

32546

Institutional Source

Beutler Lab

Gene Symbol

Mthfd2l

Ensembl Gene

ENSMUSG00000029376

Gene Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like

Synonyms

C630010D07Rik, 1110019K23Rik

MMRRC Submission

038307-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91078976-91169227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91109242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 224 (H224L)

Ref Sequence

ENSEMBL: ENSMUSP00000071578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071652]

AlphaFold

D3YZG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000071652
AA Change: H224L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071578
Gene: ENSMUSG00000029376
AA Change: H224L

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
Pfam:THF_DHG_CYH	44	160	1.4e-40	PFAM
Pfam:THF_DHG_CYH_C	163	337	4.5e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201851

Meta Mutation Damage Score

0.3570

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

98% (81/83)

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	A	T	2: 130,894,840 (GRCm39)	L687Q	probably damaging	Het
Adap1	A	G	5: 139,293,489 (GRCm39)		probably benign	Het
Add2	T	A	6: 86,075,610 (GRCm39)	V253E	probably damaging	Het
Agtr1a	A	T	13: 30,565,732 (GRCm39)	I266F	probably damaging	Het
Anxa9	A	G	3: 95,215,406 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Bnip3	A	G	7: 138,500,401 (GRCm39)		probably benign	Het
Brwd1	A	C	16: 95,860,852 (GRCm39)	S311R	probably damaging	Het
C2cd3	G	A	7: 100,067,729 (GRCm39)	V871M	possibly damaging	Het
Cacul1	A	G	19: 60,552,691 (GRCm39)	W145R	probably damaging	Het
Celf5	C	A	10: 81,305,346 (GRCm39)	V141L	probably damaging	Het
Cfap206	C	A	4: 34,714,519 (GRCm39)	L392F	possibly damaging	Het
Chd2	G	T	7: 73,105,267 (GRCm39)	T192K	probably damaging	Het
Chrna10	T	C	7: 101,764,264 (GRCm39)	N40S	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clspn	T	A	4: 126,458,722 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col5a3	A	T	9: 20,688,404 (GRCm39)		probably benign	Het
Copb1	T	A	7: 113,836,643 (GRCm39)	K366N	probably damaging	Het
Cul9	G	A	17: 46,849,436 (GRCm39)	R570C	probably benign	Het
Cyp2c70	A	T	19: 40,175,687 (GRCm39)	L7Q	probably null	Het
Dock2	T	C	11: 34,674,622 (GRCm39)	E10G	possibly damaging	Het
Dpysl4	T	G	7: 138,677,799 (GRCm39)	I412S	probably benign	Het
Eaf2	T	A	16: 36,628,536 (GRCm39)		probably benign	Het
Fasl	T	C	1: 161,615,733 (GRCm39)	D41G	probably benign	Het
Fat2	A	G	11: 55,153,697 (GRCm39)	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,620,256 (GRCm39)	F101S	probably damaging	Het
Fdft1	T	C	14: 63,415,147 (GRCm39)	I28M	probably benign	Het
Gcnt3	T	C	9: 69,941,367 (GRCm39)	I400M	probably benign	Het
Get3	T	C	8: 85,751,725 (GRCm39)		probably benign	Het
Gpd2	T	A	2: 57,228,880 (GRCm39)	M228K	probably damaging	Het
Gsap	T	A	5: 21,431,227 (GRCm39)		probably benign	Het
Hipk1	A	G	3: 103,670,996 (GRCm39)	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,154,518 (GRCm39)	I17F	probably damaging	Het
Ints10	C	A	8: 69,260,127 (GRCm39)	L284M	probably benign	Het
Kif17	T	G	4: 138,021,059 (GRCm39)	S606A	probably damaging	Het
Lifr	C	A	15: 7,205,089 (GRCm39)	T442K	possibly damaging	Het
Lypd4	A	G	7: 24,564,757 (GRCm39)	L127P	probably damaging	Het
Lyst	A	G	13: 13,862,279 (GRCm39)	H2605R	probably benign	Het
Map3k4	A	G	17: 12,457,076 (GRCm39)	S1289P	probably damaging	Het
Mgam	T	A	6: 40,742,190 (GRCm39)		probably null	Het
Mob1b	G	A	5: 88,903,943 (GRCm39)		probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Ms4a4c	C	A	19: 11,396,344 (GRCm39)		probably benign	Het
Myh8	T	C	11: 67,190,847 (GRCm39)	Y1350H	probably benign	Het
Nectin2	T	C	7: 19,464,669 (GRCm39)		probably benign	Het
Nos1	A	C	5: 118,031,967 (GRCm39)	N305T	probably damaging	Het
Ogfrl1	T	A	1: 23,409,206 (GRCm39)	Q340L	possibly damaging	Het
Or2aj5	T	C	16: 19,425,190 (GRCm39)	N76S	probably benign	Het
Or4f62	A	T	2: 111,987,171 (GRCm39)	N292Y	possibly damaging	Het
Or6k14	T	G	1: 173,927,773 (GRCm39)	F250V	probably damaging	Het
Or9i1	C	A	19: 13,839,187 (GRCm39)	T10K	probably damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Plekhg5	C	A	4: 152,189,207 (GRCm39)	D249E	probably benign	Het
Plet1	A	G	9: 50,410,430 (GRCm39)	I74V	probably benign	Het
Psmd2	T	A	16: 20,480,434 (GRCm39)	D718E	probably damaging	Het
Rab33b	G	T	3: 51,391,737 (GRCm39)		probably benign	Het
Rae1	T	A	2: 172,844,466 (GRCm39)	F4I	unknown	Het
Ralgapa2	A	G	2: 146,254,672 (GRCm39)	Y821H	probably benign	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Sharpin	G	T	15: 76,232,543 (GRCm39)	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,897,510 (GRCm39)	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,070,469 (GRCm39)	V1061A	probably benign	Het
Suclg1	A	G	6: 73,247,980 (GRCm39)	T234A	possibly damaging	Het
Swsap1	T	C	9: 21,868,318 (GRCm39)	C197R	probably benign	Het
Tbx15	A	G	3: 99,259,412 (GRCm39)	T428A	probably benign	Het
Tet2	T	C	3: 133,182,319 (GRCm39)	Y1215C	probably damaging	Het
Tjp1	A	G	7: 64,979,523 (GRCm39)		probably benign	Het
Tmem209	G	T	6: 30,502,112 (GRCm39)		probably benign	Het
Tnpo3	T	C	6: 29,589,176 (GRCm39)	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,272,283 (GRCm39)	M464K	probably damaging	Het
Ttc32	A	G	12: 9,085,897 (GRCm39)	Y148C	possibly damaging	Het
Unc80	T	C	1: 66,546,550 (GRCm39)	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,847,684 (GRCm39)		probably benign	Het
Vmn2r100	A	G	17: 19,725,136 (GRCm39)	M22V	probably benign	Het
Vmn2r100	A	T	17: 19,746,296 (GRCm39)	E485V	probably damaging	Het
Wdr24	G	A	17: 26,046,087 (GRCm39)	V471I	probably benign	Het
Zfp35	T	A	18: 24,136,001 (GRCm39)	M115K	probably benign	Het
Zfp429	G	A	13: 67,538,796 (GRCm39)	S216L	probably benign	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	Het

Other mutations in Mthfd2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Mthfd2l	APN	5	91,148,425 (GRCm39)	missense	possibly damaging	0.95
IGL03306:Mthfd2l	APN	5	91,168,067 (GRCm39)	missense	probably damaging	1.00
3-1:Mthfd2l	UTSW	5	91,094,693 (GRCm39)	missense	probably damaging	1.00
R0012:Mthfd2l	UTSW	5	91,109,242 (GRCm39)	missense	probably damaging	1.00
R0457:Mthfd2l	UTSW	5	91,168,065 (GRCm39)	missense	possibly damaging	0.82
R0458:Mthfd2l	UTSW	5	91,168,036 (GRCm39)	missense	probably damaging	1.00
R0744:Mthfd2l	UTSW	5	91,094,801 (GRCm39)	missense	probably damaging	1.00
R0833:Mthfd2l	UTSW	5	91,094,801 (GRCm39)	missense	probably damaging	1.00
R1771:Mthfd2l	UTSW	5	91,122,254 (GRCm39)	missense	probably damaging	1.00
R2226:Mthfd2l	UTSW	5	91,096,693 (GRCm39)	nonsense	probably null
R4679:Mthfd2l	UTSW	5	91,096,770 (GRCm39)	missense	probably benign	0.05
R4771:Mthfd2l	UTSW	5	91,096,727 (GRCm39)	missense	possibly damaging	0.94
R5437:Mthfd2l	UTSW	5	91,096,757 (GRCm39)	missense	possibly damaging	0.54
R7008:Mthfd2l	UTSW	5	91,107,587 (GRCm39)	missense	probably damaging	1.00
R7198:Mthfd2l	UTSW	5	91,094,705 (GRCm39)	missense	probably damaging	0.99
R7654:Mthfd2l	UTSW	5	91,094,665 (GRCm39)	missense	probably damaging	1.00
R8018:Mthfd2l	UTSW	5	91,107,672 (GRCm39)	missense	probably damaging	0.97
R9352:Mthfd2l	UTSW	5	91,109,172 (GRCm39)	missense	possibly damaging	0.78
R9625:Mthfd2l	UTSW	5	91,107,567 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGAAACTTGGTGTTCAAAAGGACT -3'
(R):5'- GATCAAAGAGGCCACATATTTCCAGCA -3'

Sequencing Primer
(F):5'- CTTGGTGTTCAAAAGGACTTTACTG -3'
(R):5'- agtatcaaaagcctcctgcc -3'

Posted On

2013-05-09