Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02344:Mthfd1l'

289227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mthfd1l

Ensembl Gene

ENSMUSG00000040675

Gene Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like

Synonyms

2410004L15Rik, Fthfsdc1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02344

Quality Score

Status

Chromosome

Chromosomal Location

3923118-4117081 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 3998272 bp (GRCm39)

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 null
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 null
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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154517

Coding Region Coverage

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 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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	C	2: 34,979,198 (GRCm39)	N167D	probably benign	Het
AI467606	G	T	7: 126,691,691 (GRCm39)	A89S	probably damaging	Het
Atrip	T	A	9: 108,901,692 (GRCm39)	K122*	probably null	Het
B3glct	C	T	5: 149,650,313 (GRCm39)	R139*	probably null	Het
Cep135	A	G	5: 76,764,668 (GRCm39)	T549A	probably benign	Het
Chd8	T	C	14: 52,439,107 (GRCm39)	N64S	probably damaging	Het
Dock2	T	C	11: 34,622,337 (GRCm39)	I101V	probably damaging	Het
Ipo5	T	C	14: 121,180,191 (GRCm39)		probably benign	Het
Ly6g5c	A	G	17: 35,329,723 (GRCm39)	T68A	possibly damaging	Het
Nme8	T	A	13: 19,858,574 (GRCm39)	E88V	possibly damaging	Het
Ptpn4	A	T	1: 119,700,990 (GRCm39)	D86E	probably damaging	Het
Rnf169	A	G	7: 99,575,642 (GRCm39)	S318P	probably damaging	Het
Sidt2	T	C	9: 45,856,590 (GRCm39)	Y493C	probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tet3	A	G	6: 83,380,815 (GRCm39)	V451A	probably benign	Het
Tmc3	A	T	7: 83,258,302 (GRCm39)	I431L	probably benign	Het
Trp73	C	T	4: 154,146,500 (GRCm39)	G420S	possibly damaging	Het
Vmn2r108	T	C	17: 20,689,405 (GRCm39)	S517G	probably damaging	Het

Other mutations in Mthfd1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Mthfd1l	APN	10	3,989,971 (GRCm38)	synonymous	probably benign
IGL01013:Mthfd1l	APN	10	3,980,716 (GRCm39)	missense	probably damaging	1.00
IGL01018:Mthfd1l	APN	10	3,982,345 (GRCm39)	splice site	probably benign
IGL01018:Mthfd1l	APN	10	3,928,708 (GRCm39)	missense	probably benign
IGL01018:Mthfd1l	APN	10	3,957,800 (GRCm39)	missense	probably benign
IGL01068:Mthfd1l	APN	10	3,978,428 (GRCm39)	missense	probably damaging	1.00
IGL01584:Mthfd1l	APN	10	3,966,738 (GRCm39)	missense	probably damaging	0.97
IGL01609:Mthfd1l	APN	10	3,968,567 (GRCm39)	missense	probably benign	0.00
IGL02272:Mthfd1l	APN	10	3,991,812 (GRCm39)	missense	probably damaging	0.99
IGL02429:Mthfd1l	APN	10	4,039,334 (GRCm39)	missense	probably damaging	1.00
IGL02503:Mthfd1l	APN	10	4,033,824 (GRCm39)	missense	probably damaging	1.00
IGL02748:Mthfd1l	APN	10	3,930,268 (GRCm39)	critical splice donor site	probably null
IGL02748:Mthfd1l	APN	10	3,968,587 (GRCm39)	missense	possibly damaging	0.94
IGL03031:Mthfd1l	APN	10	3,968,601 (GRCm39)	critical splice donor site	probably null
IGL03047:Mthfd1l	APN	10	3,930,409 (GRCm39)	splice site	probably benign
IGL03215:Mthfd1l	APN	10	3,991,826 (GRCm39)	missense	probably benign	0.14
IGL03367:Mthfd1l	APN	10	4,056,536 (GRCm39)	splice site	probably benign
R0047:Mthfd1l	UTSW	10	3,928,727 (GRCm39)	splice site	probably benign
R0047:Mthfd1l	UTSW	10	3,928,727 (GRCm39)	splice site	probably benign
R0107:Mthfd1l	UTSW	10	3,991,838 (GRCm39)	missense	probably benign
R0348:Mthfd1l	UTSW	10	4,006,766 (GRCm39)	missense	probably damaging	1.00
R0496:Mthfd1l	UTSW	10	4,040,006 (GRCm39)	missense	probably benign
R0658:Mthfd1l	UTSW	10	3,997,976 (GRCm39)	splice site	probably null
R1177:Mthfd1l	UTSW	10	3,935,661 (GRCm39)	missense	possibly damaging	0.82
R1676:Mthfd1l	UTSW	10	4,033,877 (GRCm39)	critical splice donor site	probably null
R1703:Mthfd1l	UTSW	10	4,098,093 (GRCm39)	missense	probably damaging	1.00
R1888:Mthfd1l	UTSW	10	4,056,528 (GRCm39)	missense	probably damaging	1.00
R1888:Mthfd1l	UTSW	10	4,056,528 (GRCm39)	missense	probably damaging	1.00
R1891:Mthfd1l	UTSW	10	3,982,284 (GRCm39)	nonsense	probably null
R2014:Mthfd1l	UTSW	10	3,997,894 (GRCm39)	missense	probably benign
R2061:Mthfd1l	UTSW	10	4,053,288 (GRCm39)	missense	probably benign	0.00
R2197:Mthfd1l	UTSW	10	3,978,399 (GRCm39)	missense	probably damaging	1.00
R2360:Mthfd1l	UTSW	10	4,006,771 (GRCm39)	missense	probably damaging	1.00
R3085:Mthfd1l	UTSW	10	4,040,007 (GRCm39)	missense	probably benign	0.00
R3176:Mthfd1l	UTSW	10	4,098,025 (GRCm39)	missense	probably damaging	1.00
R3276:Mthfd1l	UTSW	10	4,098,025 (GRCm39)	missense	probably damaging	1.00
R4065:Mthfd1l	UTSW	10	3,982,242 (GRCm39)	missense	probably damaging	1.00
R4612:Mthfd1l	UTSW	10	3,980,717 (GRCm39)	missense	probably damaging	1.00
R4803:Mthfd1l	UTSW	10	3,957,840 (GRCm39)	missense	possibly damaging	0.52
R4883:Mthfd1l	UTSW	10	3,957,775 (GRCm39)	missense	probably benign	0.11
R4932:Mthfd1l	UTSW	10	3,930,241 (GRCm39)	missense	probably benign	0.00
R5507:Mthfd1l	UTSW	10	4,056,432 (GRCm39)	missense	probably benign	0.20
R5687:Mthfd1l	UTSW	10	3,940,002 (GRCm39)	splice site	probably null
R5694:Mthfd1l	UTSW	10	3,985,239 (GRCm39)	missense	possibly damaging	0.90
R5727:Mthfd1l	UTSW	10	4,053,302 (GRCm39)	missense	possibly damaging	0.86
R5908:Mthfd1l	UTSW	10	4,039,392 (GRCm39)	missense	probably damaging	1.00
R5951:Mthfd1l	UTSW	10	3,998,222 (GRCm39)	missense	probably damaging	1.00
R6330:Mthfd1l	UTSW	10	3,930,234 (GRCm39)	missense	probably benign
R6583:Mthfd1l	UTSW	10	3,997,937 (GRCm39)	missense	probably damaging	0.96
R6846:Mthfd1l	UTSW	10	3,997,898 (GRCm39)	missense	probably damaging	1.00
R7105:Mthfd1l	UTSW	10	4,053,261 (GRCm39)	missense	probably benign
R7456:Mthfd1l	UTSW	10	4,039,998 (GRCm39)	missense	probably damaging	1.00
R7848:Mthfd1l	UTSW	10	4,033,739 (GRCm39)	missense	possibly damaging	0.81
R8003:Mthfd1l	UTSW	10	3,934,147 (GRCm39)	missense	probably benign	0.00
R8073:Mthfd1l	UTSW	10	3,923,417 (GRCm39)	missense	probably benign	0.28
R8140:Mthfd1l	UTSW	10	3,957,745 (GRCm39)	nonsense	probably null
R8478:Mthfd1l	UTSW	10	4,098,064 (GRCm39)	missense	probably damaging	1.00
R8677:Mthfd1l	UTSW	10	3,998,250 (GRCm39)	missense	possibly damaging	0.58
R8943:Mthfd1l	UTSW	10	3,978,466 (GRCm39)	missense	probably damaging	1.00
R9086:Mthfd1l	UTSW	10	3,923,412 (GRCm39)	missense	probably benign	0.22
R9267:Mthfd1l	UTSW	10	3,934,154 (GRCm39)	missense	probably benign
R9371:Mthfd1l	UTSW	10	4,053,335 (GRCm39)	missense	possibly damaging	0.49
X0003:Mthfd1l	UTSW	10	4,039,303 (GRCm39)	missense	probably damaging	0.99
Z1088:Mthfd1l	UTSW	10	3,957,844 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16