Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Mthfd1l'

32973

Institutional Source

Beutler Lab

Gene Symbol

Mthfd1l

Ensembl Gene

ENSMUSG00000040675

Gene Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like

Synonyms

Fthfsdc1, 2410004L15Rik

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0047 (G1)

Quality Score

159

Status

Validated (trace)

Chromosome

Chromosomal Location

3973118-4167081 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 3978727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043735] [ENSMUST00000117291] [ENSMUST00000120585]

AlphaFold

Q3V3R1

Predicted Effect

probably benign
Transcript: ENSMUST00000043735

SMART Domains

Protein: ENSMUSP00000036178
Gene: ENSMUSG00000040675

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
Pfam:THF_DHG_CYH	71	179	2.9e-15	PFAM
Pfam:THF_DHG_CYH_C	182	337	1.1e-27	PFAM
Pfam:FTHFS	358	977	1.2e-260	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117291

SMART Domains

Protein: ENSMUSP00000112870
Gene: ENSMUSG00000040675

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
Pfam:THF_DHG_CYH	71	179	2.9e-15	PFAM
Pfam:THF_DHG_CYH_C	182	337	1.1e-27	PFAM
Pfam:FTHFS	358	977	1.2e-260	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120585

SMART Domains

Protein: ENSMUSP00000112897
Gene: ENSMUSG00000040675

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
Pfam:THF_DHG_CYH	70	179	8e-17	PFAM
Pfam:THF_DHG_CYH_C	182	337	5.4e-28	PFAM
Pfam:FTHFS	359	977	7.2e-260	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous deletion of this gene causes embryonic lethality, delayed embryonic growth, craniofacial anomalies, and neural tube defects including craniorachischisis, exencephaly and/or a wavy neural tube. Maternal formate supplementation reduces the incidence of NTDs and improves embryonic growth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,264	T405A	probably damaging	Het
4932438A13Rik	T	A	3: 36,908,192	L481M	possibly damaging	Het
Acer1	A	T	17: 56,955,624	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,569,342	I395V	probably benign	Het
Adamts9	G	A	6: 92,905,306		probably benign	Het
Amigo3	T	C	9: 108,054,658	S427P	probably benign	Het
Ankrd35	A	G	3: 96,684,063	K555R	probably benign	Het
Arhgap35	A	T	7: 16,561,992	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,265,621		probably null	Het
Arid4a	T	G	12: 71,075,419	L858W	probably damaging	Het
Bbox1	A	G	2: 110,268,302	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,055,569	L261P	probably damaging	Het
Bmper	T	A	9: 23,406,686	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,346,790		probably benign	Het
Camk2g	G	A	14: 20,771,068		probably benign	Het
Capn12	G	A	7: 28,890,387		probably null	Het
Cdkl4	T	G	17: 80,550,845	N115T	probably benign	Het
Chchd1	T	C	14: 20,704,163	S48P	possibly damaging	Het
Chia1	G	T	3: 106,115,257	C49F	probably damaging	Het
Cnot7	A	G	8: 40,495,921		probably benign	Het
Crh	T	C	3: 19,694,037	E147G	probably damaging	Het
Cux1	T	C	5: 136,363,253		probably benign	Het
Cyp2b19	T	A	7: 26,766,826	D351E	probably benign	Het
Dctn1	G	T	6: 83,182,632	G31*	probably null	Het
Duox1	T	A	2: 122,346,641		probably benign	Het
Egflam	T	G	15: 7,253,430	E382A	possibly damaging	Het
Ext1	T	C	15: 53,345,146	N73S	probably benign	Het
Ffar4	A	G	19: 38,114,004		probably benign	Het
Glg1	A	T	8: 111,165,582	M866K	probably damaging	Het
Golm1	T	A	13: 59,645,100	H197L	probably benign	Het
Gtse1	A	G	15: 85,862,378	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,733,378		probably benign	Het
Hrc	T	A	7: 45,336,689	S421R	probably benign	Het
Ighg2c	T	A	12: 113,288,168		probably benign	Het
Ihh	A	G	1: 74,946,591	I245T	probably benign	Het
Ilf3	T	A	9: 21,388,714	M65K	possibly damaging	Het
Insr	A	G	8: 3,202,947	V404A	probably damaging	Het
Irak2	G	A	6: 113,678,738	V367I	probably benign	Het
Irak2	G	T	6: 113,672,953		probably benign	Het
Kat7	A	C	11: 95,300,208	N119K	probably benign	Het
Kif9	A	G	9: 110,485,038	I33V	probably benign	Het
Klf17	A	G	4: 117,761,032	Y43H	probably benign	Het
Kng2	T	A	16: 22,987,563	T629S	possibly damaging	Het
Lama1	A	T	17: 67,795,186		probably benign	Het
Lamb1	T	C	12: 31,278,601	I188T	possibly damaging	Het
Lpp	T	A	16: 24,661,800		probably benign	Het
Lrp12	T	C	15: 39,878,239	E360G	probably damaging	Het
Mark2	A	C	19: 7,283,577		probably benign	Het
Mmp3	T	C	9: 7,451,910		probably benign	Het
Mtr	A	T	13: 12,222,226	S569T	probably damaging	Het
Myh13	T	A	11: 67,367,237	S1752T	probably benign	Het
Myo5a	T	A	9: 75,156,207	L565H	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,595,053	L72*	probably null	Het
Numa1	A	G	7: 102,009,453	K296E	probably damaging	Het
Olfr1477	A	G	19: 13,502,589	E82G	probably benign	Het
Olfr186	T	A	16: 59,027,224	M228L	probably benign	Het
Olfr201	C	T	16: 59,269,211	G152D	probably damaging	Het
Olfr508	A	G	7: 108,630,552	I187V	probably benign	Het
Olfr613	A	T	7: 103,552,322	Y179F	probably damaging	Het
Pcdhb5	A	T	18: 37,321,268	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,684,556	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,743,590		probably benign	Het
Pnpla7	A	T	2: 25,011,606	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,196,696	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,861,573	R117*	probably null	Het
Rabgap1l	G	A	1: 160,231,789		probably benign	Het
Rapgef6	T	A	11: 54,546,378	M49K	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Rnf219	T	A	14: 104,503,344		probably null	Het
Rtel1	T	G	2: 181,323,405	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,903,672	M219L	probably benign	Het
Serpina3g	T	A	12: 104,240,284	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 32,850,276	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,287,362	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,336,242	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,234,954		probably benign	Het
Snx13	C	A	12: 35,101,124		probably benign	Het
Snx25	C	T	8: 46,041,365	A828T	probably damaging	Het
Spic	A	G	10: 88,675,941	L151P	probably damaging	Het
Ssu2	G	A	6: 112,374,820	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,313,378		probably benign	Het
Tbx3	A	T	5: 119,680,446	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,629,613	I469T	probably benign	Het
Tln2	A	G	9: 67,240,672		probably benign	Het
Top2a	T	A	11: 98,997,856	I1260L	probably benign	Het
Treml1	C	A	17: 48,364,980	S91*	probably null	Het
Trim26	T	C	17: 36,857,864		probably benign	Het
Trmt11	T	C	10: 30,535,243	N418S	probably benign	Het
Ttf1	A	G	2: 29,084,655	Y801C	probably damaging	Het
Usp34	C	T	11: 23,464,403	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,811,650	V728A	probably benign	Het
Vps4a	T	C	8: 107,036,701	L29P	probably damaging	Het
Wdfy3	A	G	5: 101,944,033	I480T	probably damaging	Het
Wdr41	A	G	13: 95,010,287	I197V	probably damaging	Het
Ywhag	A	T	5: 135,911,299	V147E	probably damaging	Het
Zan	A	G	5: 137,403,656	M4058T	unknown	Het
Zfp236	C	T	18: 82,680,692	C88Y	probably damaging	Het

Other mutations in Mthfd1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Mthfd1l	APN	10	3989971	synonymous	probably benign
IGL01013:Mthfd1l	APN	10	4030716	missense	probably damaging	1.00
IGL01018:Mthfd1l	APN	10	3978708	missense	probably benign
IGL01018:Mthfd1l	APN	10	4007800	missense	probably benign
IGL01018:Mthfd1l	APN	10	4032345	splice site	probably benign
IGL01068:Mthfd1l	APN	10	4028428	missense	probably damaging	1.00
IGL01584:Mthfd1l	APN	10	4016738	missense	probably damaging	0.97
IGL01609:Mthfd1l	APN	10	4018567	missense	probably benign	0.00
IGL02272:Mthfd1l	APN	10	4041812	missense	probably damaging	0.99
IGL02344:Mthfd1l	APN	10	4048272	splice site	probably null
IGL02429:Mthfd1l	APN	10	4089334	missense	probably damaging	1.00
IGL02503:Mthfd1l	APN	10	4083824	missense	probably damaging	1.00
IGL02748:Mthfd1l	APN	10	4018587	missense	possibly damaging	0.94
IGL02748:Mthfd1l	APN	10	3980268	critical splice donor site	probably null
IGL03031:Mthfd1l	APN	10	4018601	critical splice donor site	probably null
IGL03047:Mthfd1l	APN	10	3980409	splice site	probably benign
IGL03215:Mthfd1l	APN	10	4041826	missense	probably benign	0.14
IGL03367:Mthfd1l	APN	10	4106536	splice site	probably benign
R0047:Mthfd1l	UTSW	10	3978727	splice site	probably benign
R0107:Mthfd1l	UTSW	10	4041838	missense	probably benign
R0348:Mthfd1l	UTSW	10	4056766	missense	probably damaging	1.00
R0496:Mthfd1l	UTSW	10	4090006	missense	probably benign
R0658:Mthfd1l	UTSW	10	4047976	splice site	probably null
R1177:Mthfd1l	UTSW	10	3985661	missense	possibly damaging	0.82
R1676:Mthfd1l	UTSW	10	4083877	critical splice donor site	probably null
R1703:Mthfd1l	UTSW	10	4148093	missense	probably damaging	1.00
R1888:Mthfd1l	UTSW	10	4106528	missense	probably damaging	1.00
R1888:Mthfd1l	UTSW	10	4106528	missense	probably damaging	1.00
R1891:Mthfd1l	UTSW	10	4032284	nonsense	probably null
R2014:Mthfd1l	UTSW	10	4047894	missense	probably benign
R2061:Mthfd1l	UTSW	10	4103288	missense	probably benign	0.00
R2197:Mthfd1l	UTSW	10	4028399	missense	probably damaging	1.00
R2360:Mthfd1l	UTSW	10	4056771	missense	probably damaging	1.00
R3085:Mthfd1l	UTSW	10	4090007	missense	probably benign	0.00
R3176:Mthfd1l	UTSW	10	4148025	missense	probably damaging	1.00
R3276:Mthfd1l	UTSW	10	4148025	missense	probably damaging	1.00
R4065:Mthfd1l	UTSW	10	4032242	missense	probably damaging	1.00
R4612:Mthfd1l	UTSW	10	4030717	missense	probably damaging	1.00
R4803:Mthfd1l	UTSW	10	4007840	missense	possibly damaging	0.52
R4883:Mthfd1l	UTSW	10	4007775	missense	probably benign	0.11
R4932:Mthfd1l	UTSW	10	3980241	missense	probably benign	0.00
R5507:Mthfd1l	UTSW	10	4106432	missense	probably benign	0.20
R5687:Mthfd1l	UTSW	10	3990002	splice site	probably null
R5694:Mthfd1l	UTSW	10	4035239	missense	possibly damaging	0.90
R5727:Mthfd1l	UTSW	10	4103302	missense	possibly damaging	0.86
R5908:Mthfd1l	UTSW	10	4089392	missense	probably damaging	1.00
R5951:Mthfd1l	UTSW	10	4048222	missense	probably damaging	1.00
R6330:Mthfd1l	UTSW	10	3980234	missense	probably benign
R6583:Mthfd1l	UTSW	10	4047937	missense	probably damaging	0.96
R6846:Mthfd1l	UTSW	10	4047898	missense	probably damaging	1.00
R7105:Mthfd1l	UTSW	10	4103261	missense	probably benign
R7456:Mthfd1l	UTSW	10	4089998	missense	probably damaging	1.00
R7848:Mthfd1l	UTSW	10	4083739	missense	possibly damaging	0.81
R8003:Mthfd1l	UTSW	10	3984147	missense	probably benign	0.00
R8073:Mthfd1l	UTSW	10	3973417	missense	probably benign	0.28
R8140:Mthfd1l	UTSW	10	4007745	nonsense	probably null
R8478:Mthfd1l	UTSW	10	4148064	missense	probably damaging	1.00
R8677:Mthfd1l	UTSW	10	4048250	missense	possibly damaging	0.58
R8943:Mthfd1l	UTSW	10	4028466	missense	probably damaging	1.00
R9086:Mthfd1l	UTSW	10	3973412	missense	probably benign	0.22
R9267:Mthfd1l	UTSW	10	3984154	missense	probably benign
R9371:Mthfd1l	UTSW	10	4103335	missense	possibly damaging	0.49
X0003:Mthfd1l	UTSW	10	4089303	missense	probably damaging	0.99
Z1088:Mthfd1l	UTSW	10	4007844	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGTAAGGACACTCATTGTGCC -3'
(R):5'- TTGTGTCTAACCTGCAACTCTGCTG -3'

Sequencing Primer
(F):5'- GTGCCTGTCCTAACTAATCATTAAC -3'
(R):5'- TGCAACTCTGCTGAAGAAAAC -3'

Posted On

2013-05-09