Mutagenetix > Incidental Mutation

Incidental Mutation 'R2851:Mthfsd'

252213

Institutional Source

Beutler Lab

Gene Symbol

Mthfsd

Ensembl Gene

ENSMUSG00000031816

Gene Name

methenyltetrahydrofolate synthetase domain containing

Synonyms

MMRRC Submission

040444-MU

Accession Numbers

Essential gene?

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

Stock #

R2851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121818367-121835131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121832512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 60 (T60I)

Ref Sequence

ENSEMBL: ENSMUSP00000148598 (fasta)

Gene Model

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

AlphaFold

Q3URQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000047282
AA Change: T41I

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816
AA Change: T41I

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
AA Change: T60I

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112116
Gene: ENSMUSG00000031816
AA Change: T60I

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

noncoding transcript
Transcript: ENSMUST00000128503

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: ENSMUST00000151576
AA Change: T60I

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145991

Predicted Effect

probably benign
Transcript: ENSMUST00000134758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213028

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

Meta Mutation Damage Score

0.0779

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	T	C	9: 110,723,203 (GRCm39)	S636P	probably damaging	Het
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Bank1	A	T	3: 135,948,701 (GRCm39)	S159T	possibly damaging	Het
Catsperd	A	G	17: 56,967,169 (GRCm39)		probably null	Het
Ccdc85a	A	G	11: 28,342,942 (GRCm39)		probably benign	Het
Ceacam11	T	C	7: 17,712,451 (GRCm39)	I300T	probably benign	Het
Cmtm5	A	G	14: 55,175,512 (GRCm39)		probably benign	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,585,614 (GRCm39)	N1254K	probably damaging	Het
Crispld2	T	A	8: 120,740,828 (GRCm39)	L107Q	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cyp1b1	T	C	17: 80,017,649 (GRCm39)	N502S	probably benign	Het
Cyp51	A	T	5: 4,149,183 (GRCm39)	D231E	probably damaging	Het
Depdc5	A	G	5: 33,081,515 (GRCm39)	E559G	probably damaging	Het
Dnai4	A	G	4: 102,953,858 (GRCm39)	S114P	probably benign	Het
Dscam	T	C	16: 96,423,915 (GRCm39)	T1677A	possibly damaging	Het
Dzip1	A	C	14: 119,159,857 (GRCm39)	M117R	possibly damaging	Het
Ednrb	G	T	14: 104,059,110 (GRCm39)	S305R	probably benign	Het
Emilin1	A	G	5: 31,074,509 (GRCm39)	D250G	probably benign	Het
Frrs1	A	G	3: 116,678,778 (GRCm39)	N200S	probably benign	Het
Fstl5	T	A	3: 76,337,045 (GRCm39)		probably benign	Het
Gmcl1	A	C	6: 86,703,159 (GRCm39)	S92A	probably damaging	Het
Gpr62	T	C	9: 106,341,911 (GRCm39)	E339G	probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Il19	A	G	1: 130,863,694 (GRCm39)	V99A	possibly damaging	Het
Itga9	G	A	9: 118,465,604 (GRCm39)	E153K	probably damaging	Het
Itgad	T	A	7: 127,803,732 (GRCm39)	V42E	probably benign	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Map4k4	T	A	1: 40,039,915 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,159,902 (GRCm39)	V670D	probably benign	Het
Mfsd4b2	T	A	10: 39,798,119 (GRCm39)	S79C	probably benign	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mycbp2	A	T	14: 103,381,769 (GRCm39)	F3724I	probably damaging	Het
Nceh1	A	G	3: 27,295,504 (GRCm39)	Y255C	probably damaging	Het
Ncoa2	C	T	1: 13,257,113 (GRCm39)	V129I	probably damaging	Het
Ndufb5	T	C	3: 32,800,600 (GRCm39)	F58L	probably damaging	Het
Npsr1	A	G	9: 24,221,301 (GRCm39)		probably benign	Het
Obscn	C	A	11: 58,920,844 (GRCm39)		probably null	Het
Pdzd7	C	G	19: 45,016,113 (GRCm39)	V1003L	probably benign	Het
Pias3	A	G	3: 96,610,853 (GRCm39)	E377G	possibly damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkhd1	T	C	1: 20,128,526 (GRCm39)	Q4059R	probably benign	Het
Ppa2	A	T	3: 133,026,764 (GRCm39)		probably null	Het
Proser1	G	A	3: 53,387,966 (GRCm39)	A885T	probably benign	Het
Robo2	A	G	16: 73,758,776 (GRCm39)	I665T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Secisbp2	G	A	13: 51,808,671 (GRCm39)		probably null	Het
Setbp1	T	A	18: 78,967,211 (GRCm39)	Q171L	probably benign	Het
Spata1	A	G	3: 146,193,295 (GRCm39)	L96P	possibly damaging	Het
Srprb	G	A	9: 103,076,038 (GRCm39)	Q800*	probably null	Het
Stk11ip	A	G	1: 75,505,911 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,921,557 (GRCm39)	T445A	probably damaging	Het
Tdrd12	G	A	7: 35,184,798 (GRCm39)	T705M	probably damaging	Het
Tek	A	G	4: 94,708,461 (GRCm39)	T340A	probably benign	Het
Timm22	G	A	11: 76,304,925 (GRCm39)	A188T	probably damaging	Het
Tmeff1	T	A	4: 48,604,692 (GRCm39)		probably null	Het
Tmprss12	C	A	15: 100,180,296 (GRCm39)	T112K	possibly damaging	Het
U2surp	A	G	9: 95,382,735 (GRCm39)		probably null	Het
Vmn2r84	T	A	10: 130,230,036 (GRCm39)	E25D	probably benign	Het
Wdr62	A	T	7: 29,960,862 (GRCm39)	N22K	possibly damaging	Het
Zfp653	A	T	9: 21,968,862 (GRCm39)	D426E	probably benign	Het
Zfyve28	G	A	5: 34,354,006 (GRCm39)	P834L	probably damaging	Het
Zkscan16	A	G	4: 58,957,364 (GRCm39)	T549A	possibly damaging	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
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
R7309:Mthfsd	UTSW	8	121,835,070 (GRCm39)	unclassified	probably benign
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'- TACCTGCAGTGCCAGGAATC -3'
(R):5'- GAACTGAGTTCTGGGTTAGCC -3'

Sequencing Primer
(F):5'- AGGAATCGGACACCTTCCAGG -3'
(R):5'- AGCCCCTTCCTACCCTGGG -3'

Posted On

2014-12-04