Mutagenetix > Incidental Mutation

Incidental Mutation 'R7309:Mthfsd'

567450

Institutional Source

Beutler Lab

Gene Symbol

Mthfsd

Ensembl Gene

ENSMUSG00000031816

Gene Name

methenyltetrahydrofolate synthetase domain containing

Synonyms

MMRRC Submission

045408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R7309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121818367-121835131 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 121835070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047282] [ENSMUST00000116415] [ENSMUST00000126431] [ENSMUST00000127664] [ENSMUST00000128052] [ENSMUST00000133037] [ENSMUST00000134758] [ENSMUST00000139782] [ENSMUST00000151576]

AlphaFold

Q3URQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000047282

SMART Domains

Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816

Domain	Start	End	E-Value	Type
Pfam:5-FTHF_cyc-lig	1	187	1.1e-31	PFAM
RRM	278	346	2.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116415

SMART Domains

Protein: ENSMUSP00000112116
Gene: ENSMUSG00000031816

Domain	Start	End	E-Value	Type
Pfam:5-FTHF_cyc-lig	9	206	2.3e-36	PFAM
RRM	297	365	2.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126431

SMART Domains

Protein: ENSMUSP00000119673
Gene: ENSMUSG00000031816

Domain	Start	End	E-Value	Type
low complexity region	44	54	N/A	INTRINSIC
Pfam:5-FTHF_cyc-lig	81	278	5.2e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128052

Predicted Effect

probably benign
Transcript: ENSMUST00000133037

SMART Domains

Protein: ENSMUSP00000117429
Gene: ENSMUSG00000031816

Domain	Start	End	E-Value	Type
Pfam:5-FTHF_cyc-lig	9	206	7.8e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134758

Predicted Effect

probably benign
Transcript: ENSMUST00000139782

SMART Domains

Protein: ENSMUSP00000115382
Gene: ENSMUSG00000031816

Domain	Start	End	E-Value	Type
Pfam:5-FTHF_cyc-lig	1	187	2.1e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151576

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (47/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,884,819 (GRCm39)	H346Q	probably damaging	Het
4932414N04Rik	A	T	2: 68,546,530 (GRCm39)	I71L	probably benign	Het
Anapc1	A	G	2: 128,516,604 (GRCm39)	S377P	probably damaging	Het
Cldnd2	A	G	7: 43,091,133 (GRCm39)	T22A	possibly damaging	Het
Comp	A	T	8: 70,826,328 (GRCm39)		probably null	Het
Cop1	A	G	1: 159,134,195 (GRCm39)	K446E	probably damaging	Het
Cox18	T	C	5: 90,362,917 (GRCm39)	T314A	possibly damaging	Het
Csrp3	A	G	7: 48,485,317 (GRCm39)	V60A	probably benign	Het
Dnah8	A	T	17: 31,093,988 (GRCm39)	Y4694F	probably damaging	Het
Dnm1l	A	G	16: 16,139,510 (GRCm39)	Y493H	probably damaging	Het
Esf1	A	T	2: 139,967,011 (GRCm39)		probably null	Het
Fam187a	T	A	11: 102,776,832 (GRCm39)	V212E	probably damaging	Het
Fign	A	T	2: 63,810,301 (GRCm39)	M323K	possibly damaging	Het
Foxf2	A	G	13: 31,810,496 (GRCm39)	K145R	probably damaging	Het
Fxyd5	T	C	7: 30,734,829 (GRCm39)	N133D	probably benign	Het
Hnrnpdl	A	T	5: 100,185,482 (GRCm39)	L240*	probably null	Het
Kcna7	T	G	7: 45,058,679 (GRCm39)	F322C	probably damaging	Het
Kcnj9	A	G	1: 172,153,825 (GRCm39)	C100R	probably damaging	Het
Lrrc14b	C	A	13: 74,511,321 (GRCm39)	C253F	probably benign	Het
Map3k11	T	C	19: 5,740,486 (GRCm39)	V71A	probably damaging	Het
Med13	C	A	11: 86,181,888 (GRCm39)	M1315I	probably benign	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Miox	G	T	15: 89,220,252 (GRCm39)	C148F	probably damaging	Het
Mpdz	A	T	4: 81,300,195 (GRCm39)		probably null	Het
Myh15	G	A	16: 48,916,828 (GRCm39)	A383T	probably benign	Het
Nlrc5	A	G	8: 95,200,670 (GRCm39)	H117R	probably benign	Het
Ntrk1	A	T	3: 87,702,384 (GRCm39)	M23K	probably benign	Het
Or14c45	T	A	7: 86,176,349 (GRCm39)	L128H	probably damaging	Het
Or4c3d	T	A	2: 89,881,801 (GRCm39)	N289I	probably damaging	Het
Or8g21	T	A	9: 38,906,576 (GRCm39)	S52C	probably damaging	Het
Pkd1l3	A	G	8: 110,374,893 (GRCm39)		probably null	Het
Plcz1	A	T	6: 139,968,882 (GRCm39)	D185E	probably damaging	Het
Plekhg5	C	A	4: 152,196,985 (GRCm39)	Q757K	possibly damaging	Het
Prr23a2	T	A	9: 98,739,027 (GRCm39)	D128E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,416,712 (GRCm39)		probably null	Het
Sh3bp5	C	T	14: 31,100,246 (GRCm39)	V221M	probably benign	Het
Slc25a27	A	T	17: 43,975,083 (GRCm39)	D59E	probably benign	Het
Slc35e1	G	C	8: 73,246,358 (GRCm39)	R25G	unknown	Het
Slc4a4	T	C	5: 89,318,610 (GRCm39)	V626A	probably benign	Het
Slfn5	T	C	11: 82,847,529 (GRCm39)	L138P	probably damaging	Het
Stat1	A	G	1: 52,165,780 (GRCm39)		probably null	Het
Tnks2	G	T	19: 36,829,936 (GRCm39)	A206S	probably damaging	Het
Trav7-1	C	A	14: 52,892,521 (GRCm39)	Q25K	probably benign	Het
Ttn	A	G	2: 76,728,670 (GRCm39)	M5470T	unknown	Het
Vps35	A	T	8: 86,001,596 (GRCm39)	D407E	probably benign	Het
Wdr90	T	C	17: 26,079,676 (GRCm39)	D190G	probably benign	Het
Wdr93	T	A	7: 79,423,103 (GRCm39)	F456I	possibly damaging	Het
Wdr95	A	G	5: 149,529,758 (GRCm39)	E675G	probably benign	Het

Other mutations in Mthfsd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Mthfsd	APN	8	121,831,207 (GRCm39)	missense	probably damaging	1.00
IGL03002:Mthfsd	APN	8	121,835,018 (GRCm39)	splice site	probably benign
R0076:Mthfsd	UTSW	8	121,825,478 (GRCm39)	missense	probably benign	0.04
R0416:Mthfsd	UTSW	8	121,827,976 (GRCm39)	missense	probably damaging	1.00
R0745:Mthfsd	UTSW	8	121,829,688 (GRCm39)	missense	probably damaging	1.00
R2157:Mthfsd	UTSW	8	121,828,240 (GRCm39)	missense	probably damaging	1.00
R2851:Mthfsd	UTSW	8	121,832,512 (GRCm39)	missense	probably benign	0.38
R3439:Mthfsd	UTSW	8	121,825,860 (GRCm39)	missense	possibly damaging	0.89
R4207:Mthfsd	UTSW	8	121,832,365 (GRCm39)	missense	probably damaging	1.00
R4456:Mthfsd	UTSW	8	121,832,504 (GRCm39)	missense	possibly damaging	0.89
R4757:Mthfsd	UTSW	8	121,825,737 (GRCm39)	critical splice donor site	probably null
R5154:Mthfsd	UTSW	8	121,825,479 (GRCm39)	missense	probably damaging	1.00
R5208:Mthfsd	UTSW	8	121,835,058 (GRCm39)	unclassified	probably benign
R5496:Mthfsd	UTSW	8	121,825,553 (GRCm39)	nonsense	probably null
R6652:Mthfsd	UTSW	8	121,825,560 (GRCm39)	missense	probably damaging	1.00
R7538:Mthfsd	UTSW	8	121,825,525 (GRCm39)	missense	probably benign	0.41
R8072:Mthfsd	UTSW	8	121,825,555 (GRCm39)	missense	probably damaging	1.00
R9759:Mthfsd	UTSW	8	121,824,615 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGCTGGCTAAAACCTGTC -3'
(R):5'- GACCTCTGGTCCTCTAATGC -3'

Sequencing Primer
(F):5'- AGGATGGGACTGATCCTCC -3'
(R):5'- AATGCGTCGGTGCTACTAC -3'

Posted On

2019-06-26