Mutagenetix > Incidental Mutation

Incidental Mutation 'R0745:Mthfsd'

70921

Institutional Source

Beutler Lab

Gene Symbol

Mthfsd

Ensembl Gene

ENSMUSG00000031816

Gene Name

methenyltetrahydrofolate synthetase domain containing

Synonyms

MMRRC Submission

038926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121818367-121835131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121829688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 116 (L116Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115382 (fasta)

Gene Model

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

AlphaFold

Q3URQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000047282
AA Change: L116Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816
AA Change: L116Q

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 damaging
Transcript: ENSMUST00000116415
AA Change: L135Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112116
Gene: ENSMUSG00000031816
AA Change: L135Q

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 damaging
Transcript: ENSMUST00000126431
AA Change: L207Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119673
Gene: ENSMUSG00000031816
AA Change: L207Q

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 damaging
Transcript: ENSMUST00000133037
AA Change: L135Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117429
Gene: ENSMUSG00000031816
AA Change: L135Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000139782
AA Change: L116Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115382
Gene: ENSMUSG00000031816
AA Change: L116Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145991

Predicted Effect

probably benign
Transcript: ENSMUST00000151576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138908

Predicted Effect

probably benign
Transcript: ENSMUST00000134758

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,675,068 (GRCm39)		probably null	Het
Adam17	A	G	12: 21,382,222 (GRCm39)		probably benign	Het
Aldh1l2	T	A	10: 83,354,494 (GRCm39)		probably null	Het
Bltp1	A	G	3: 36,982,612 (GRCm39)	Y759C	probably damaging	Het
Brca2	A	T	5: 150,468,347 (GRCm39)		probably benign	Het
Capn13	A	C	17: 73,658,503 (GRCm39)	D188E	probably benign	Het
Col14a1	A	T	15: 55,201,813 (GRCm39)	T34S	unknown	Het
Col5a2	A	G	1: 45,446,387 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,761,688 (GRCm39)		probably benign	Het
Dlat	G	A	9: 50,565,008 (GRCm39)	T233M	probably damaging	Het
Eef2	C	T	10: 81,017,830 (GRCm39)	P831S	probably benign	Het
Endod1	A	T	9: 14,268,413 (GRCm39)	N357K	possibly damaging	Het
Evc	A	T	5: 37,476,403 (GRCm39)	V205E	probably damaging	Het
Fryl	A	G	5: 73,228,469 (GRCm39)	L1754P	probably damaging	Het
Gabra6	A	T	11: 42,207,394 (GRCm39)	M230K	probably damaging	Het
Hsd3b5	A	G	3: 98,526,855 (GRCm39)	V197A	probably benign	Het
Kmt2c	A	T	5: 25,564,696 (GRCm39)		probably null	Het
Mug1	A	G	6: 121,864,386 (GRCm39)	T1428A	probably benign	Het
Obscn	A	G	11: 58,973,065 (GRCm39)	V2312A	probably benign	Het
Or1i2	T	C	10: 78,447,956 (GRCm39)	E173G	probably benign	Het
Palld	G	A	8: 62,330,737 (GRCm39)	R47C	probably damaging	Het
Pds5b	A	G	5: 150,729,136 (GRCm39)	T1424A	probably benign	Het
Ppp6r2	G	A	15: 89,149,445 (GRCm39)		probably null	Het
Sik3	A	G	9: 46,109,537 (GRCm39)	N505S	probably benign	Het
Spin1	A	G	13: 51,293,551 (GRCm39)	Y87C	probably damaging	Het
Tcp11	T	C	17: 28,286,134 (GRCm39)	I494V	possibly damaging	Het
Tgfa	G	A	6: 86,248,417 (GRCm39)	E140K	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trmo	A	G	4: 46,382,104 (GRCm39)	F338L	probably damaging	Het
Tspan17	T	C	13: 54,937,487 (GRCm39)	V27A	possibly damaging	Het
Tut4	C	G	4: 108,360,152 (GRCm39)		probably benign	Het
Uba5	A	G	9: 103,926,710 (GRCm39)		probably benign	Het
Unc5a	CTGTGTGTGTGTGTGT	CTGTGTGTGTGTGT	13: 55,153,068 (GRCm39)		probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	probably damaging	Het
Zfp451	A	T	1: 33,809,929 (GRCm39)	L931*	probably null	Het
Zmym4	A	T	4: 126,796,496 (GRCm39)		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
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
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'- GTGGGATCACTACAACCATGAGCG -3'
(R):5'- CCATCTGATTATTCCCGGAACTGGC -3'

Sequencing Primer
(F):5'- TGTGAGAGAGACTCGATCCCTC -3'
(R):5'- CTGTCCCAGGACACTGC -3'

Posted On

2013-09-30