Mutagenetix > Incidental Mutation

Incidental Mutation 'R1676:Mthfd1l'

188093

Institutional Source

Beutler Lab

Gene Symbol

Mthfd1l

Ensembl Gene

ENSMUSG00000040675

Gene Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like

Synonyms

2410004L15Rik, Fthfsdc1

MMRRC Submission

039712-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1676 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3923118-4117081 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 4033877 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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	T	11: 58,771,819 (GRCm39)	A434S	possibly damaging	Het
Abhd8	T	A	8: 71,914,517 (GRCm39)	D37V	probably damaging	Het
Acvr2a	G	A	2: 48,763,095 (GRCm39)	S97N	probably benign	Het
Ampd3	T	A	7: 110,394,940 (GRCm39)	H296Q	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Cap2	T	G	13: 46,791,335 (GRCm39)	H167Q	probably damaging	Het
Car8	A	G	4: 8,185,616 (GRCm39)	L180S	probably damaging	Het
Casp8	T	A	1: 58,883,575 (GRCm39)	I314N	probably damaging	Het
Cavin2	T	A	1: 51,340,330 (GRCm39)	S336T	probably benign	Het
Cdc14b	A	T	13: 64,373,416 (GRCm39)	I119N	possibly damaging	Het
Cemip	T	A	7: 83,613,246 (GRCm39)	I651F	possibly damaging	Het
Cfap57	T	A	4: 118,453,137 (GRCm39)	D522V	probably damaging	Het
Clrn3	A	T	7: 135,120,307 (GRCm39)	V93D	probably damaging	Het
Crppa	T	C	12: 36,526,720 (GRCm39)	C170R	probably benign	Het
Cyp4f39	A	G	17: 32,701,176 (GRCm39)	D222G	probably benign	Het
D5Ertd579e	A	G	5: 36,773,453 (GRCm39)	V314A	probably benign	Het
Dchs1	C	T	7: 105,404,128 (GRCm39)	V2805I	probably benign	Het
Dsp	A	T	13: 38,377,350 (GRCm39)	K1712*	probably null	Het
Emilin2	T	C	17: 71,581,085 (GRCm39)	D547G	probably benign	Het
Erbb3	T	C	10: 128,419,117 (GRCm39)	H248R	probably benign	Het
Erich3	A	G	3: 154,468,260 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,151,701 (GRCm39)	T2518A	probably damaging	Het
Fzd2	G	A	11: 102,496,707 (GRCm39)	V384M	probably damaging	Het
Gpc5	T	A	14: 115,607,510 (GRCm39)	S371T	probably damaging	Het
Hbb-bh2	T	C	7: 103,488,362 (GRCm39)	K145R	probably null	Het
Hectd1	G	T	12: 51,791,571 (GRCm39)	P2558Q	probably damaging	Het
Hgsnat	C	T	8: 26,444,633 (GRCm39)		probably null	Het
Hirip3	T	C	7: 126,462,647 (GRCm39)		probably null	Het
Itpkc	T	C	7: 26,907,706 (GRCm39)	D666G	probably damaging	Het
Jmjd1c	T	A	10: 67,060,588 (GRCm39)	D693E	probably benign	Het
Katnbl1	T	C	2: 112,236,454 (GRCm39)	L60P	probably damaging	Het
Kcna1	T	A	6: 126,619,645 (GRCm39)	E225V	probably damaging	Het
Kcnj6	T	A	16: 94,633,443 (GRCm39)	M223L	probably damaging	Het
Kcnk7	G	T	19: 5,757,006 (GRCm39)	V332F	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Mdga2	C	A	12: 66,615,546 (GRCm39)	G618V	probably damaging	Het
Mdga2	C	A	12: 66,615,547 (GRCm39)	G618*	probably null	Het
Morc2b	T	C	17: 33,354,955 (GRCm39)	E939G	possibly damaging	Het
Mstn	T	A	1: 53,101,224 (GRCm39)	D100E	probably benign	Het
Muc20	T	A	16: 32,614,649 (GRCm39)	T243S	probably damaging	Het
Myo1d	A	T	11: 80,575,247 (GRCm39)	N156K	probably damaging	Het
Myo7a	A	G	7: 97,748,679 (GRCm39)		probably null	Het
Naa35	A	T	13: 59,760,490 (GRCm39)	Q274L	probably damaging	Het
Ncam1	G	A	9: 49,468,472 (GRCm39)	T329I	probably damaging	Het
Nisch	T	C	14: 30,902,859 (GRCm39)		probably benign	Het
Nlrp1b	A	T	11: 71,073,637 (GRCm39)	W69R	probably benign	Het
Nrap	T	A	19: 56,323,687 (GRCm39)	H1294L	probably damaging	Het
Nsun6	T	A	2: 15,052,024 (GRCm39)	R56*	probably null	Het
Nudt1	A	G	5: 140,320,378 (GRCm39)		probably null	Het
Nxph4	T	G	10: 127,362,077 (GRCm39)	K271N	probably damaging	Het
Or1af1	A	T	2: 37,109,653 (GRCm39)	R51*	probably null	Het
Or4a66	T	G	2: 88,531,661 (GRCm39)	H4P	probably benign	Het
Or51e2	T	A	7: 102,391,605 (GRCm39)	I202F	probably damaging	Het
Or52a20	T	C	7: 103,366,319 (GRCm39)	W173R	probably benign	Het
Otud6b	T	A	4: 14,825,617 (GRCm39)	N71I	probably damaging	Het
Parp8	T	A	13: 117,014,064 (GRCm39)	D623V	probably damaging	Het
Pcdhb5	T	C	18: 37,453,805 (GRCm39)	S62P	probably benign	Het
Ppp1r12b	A	G	1: 134,705,190 (GRCm39)	S833P	probably damaging	Het
Ppp1r1a	T	G	15: 103,441,915 (GRCm39)	D51A	probably damaging	Het
Prag1	C	A	8: 36,570,052 (GRCm39)	P212T	probably damaging	Het
Prxl2b	C	T	4: 154,981,520 (GRCm39)	V186I	probably benign	Het
Ptdss1	A	G	13: 67,081,701 (GRCm39)	T44A	probably damaging	Het
Rab14	T	C	2: 35,076,735 (GRCm39)	H83R	possibly damaging	Het
Rapgef3	C	T	15: 97,659,063 (GRCm39)	G101E	probably benign	Het
Rimbp3	T	A	16: 17,028,977 (GRCm39)	D800E	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Selenbp1	A	G	3: 94,851,854 (GRCm39)	D465G	probably damaging	Het
Slc28a2b	T	C	2: 122,352,340 (GRCm39)	S366P	probably damaging	Het
Slc29a1	T	C	17: 45,899,936 (GRCm39)	D251G	probably damaging	Het
Slc6a11	G	T	6: 114,224,627 (GRCm39)	V604F	probably benign	Het
Sltm	T	A	9: 70,480,929 (GRCm39)	D260E	probably damaging	Het
Spta1	G	A	1: 174,007,405 (GRCm39)	V212M	probably damaging	Het
St6gal2	T	C	17: 55,803,396 (GRCm39)		probably null	Het
Tc2n	A	G	12: 101,655,251 (GRCm39)	S235P	probably damaging	Het
Tenm3	T	A	8: 48,870,154 (GRCm39)	N213I	possibly damaging	Het
Ticam2	T	C	18: 46,693,677 (GRCm39)	T137A	probably damaging	Het
Ttn	TCCC	TCCCC	2: 76,573,251 (GRCm39)		probably null	Het
Tyk2	G	A	9: 21,026,545 (GRCm39)	Q684*	probably null	Het
Ubqln1	A	G	13: 58,327,205 (GRCm39)	F478S	possibly damaging	Het
Uckl1	G	A	2: 181,216,711 (GRCm39)	T78I	probably damaging	Het
Uhmk1	A	G	1: 170,027,581 (GRCm39)	V372A	probably damaging	Het
Unc5c	G	A	3: 141,463,598 (GRCm39)	V240I	possibly damaging	Het
Ush2a	T	C	1: 188,460,782 (GRCm39)	L2681P	probably damaging	Het
Vmn2r1	C	T	3: 63,997,603 (GRCm39)	Q420*	probably null	Het
Vmn2r101	A	T	17: 19,832,184 (GRCm39)	T727S	probably benign	Het
Vmn2r79	A	G	7: 86,651,839 (GRCm39)	T413A	probably benign	Het
Vps13c	T	C	9: 67,834,244 (GRCm39)	V1637A	probably benign	Het
Xpc	A	G	6: 91,469,929 (GRCm39)	V765A	possibly damaging	Het
Zbtb18	T	G	1: 177,274,913 (GRCm39)		probably null	Het
Zfp712	A	T	13: 67,200,400 (GRCm39)	D28E	probably benign	Het
Zfp735	A	G	11: 73,602,301 (GRCm39)	N415S	possibly 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
IGL02344:Mthfd1l	APN	10	3,998,272 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGCACCTTGTAGTGGCCTTG -3'
(R):5'- CACTCGCTCGCTTGCACTGG -3'

Sequencing Primer
(F):5'- TTATTAAACATTGGTTGCTGTGTTC -3'
(R):5'- ggaagagcagtcagtgagtg -3'

Posted On

2014-05-09