Mutagenetix > Incidental Mutation

Incidental Mutation 'R3439:Mthfsd'

267318

Institutional Source

Beutler Lab

Gene Symbol

Mthfsd

Ensembl Gene

ENSMUSG00000031816

Gene Name

methenyltetrahydrofolate synthetase domain containing

Synonyms

MMRRC Submission

040657-MU

Accession Numbers

Essential gene?

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

Stock #

R3439 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

121818367-121835131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121825860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 218 (V218A)

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

possibly damaging
Transcript: ENSMUST00000047282
AA Change: V218A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816
AA Change: V218A

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

possibly damaging
Transcript: ENSMUST00000116415
AA Change: V237A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112116
Gene: ENSMUSG00000031816
AA Change: V237A

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

possibly damaging
Transcript: ENSMUST00000133037
AA Change: V237A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117429
Gene: ENSMUSG00000031816
AA Change: V237A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133058

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139782
AA Change: V218A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115382
Gene: ENSMUSG00000031816
AA Change: V218A

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: ENSMUST00000213028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149718

Predicted Effect

probably benign
Transcript: ENSMUST00000134758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156606

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	C	A	15: 10,381,511 (GRCm39)	P255Q	probably benign	Het
Cdcp3	T	C	7: 130,790,508 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,873,322 (GRCm39)	Y2458H	possibly damaging	Het
Dnhd1	A	G	7: 105,343,992 (GRCm39)	T1779A	probably damaging	Het
Glb1l	A	T	1: 75,179,264 (GRCm39)	C222S	probably damaging	Het
Gnb1l	A	G	16: 18,371,117 (GRCm39)	T203A	probably benign	Het
Helq	T	C	5: 100,946,170 (GRCm39)	E57G	probably damaging	Het
Kng2	T	C	16: 22,830,821 (GRCm39)	I163V	probably benign	Het
Larp7-ps	A	C	4: 92,079,919 (GRCm39)	V23G	possibly damaging	Het
Lingo1	T	C	9: 56,528,017 (GRCm39)	T191A	probably benign	Het
Lrrc37a	G	A	11: 103,388,690 (GRCm39)	T2245I	unknown	Het
Med13	T	C	11: 86,176,123 (GRCm39)	D1624G	probably damaging	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nom1	T	C	5: 29,640,615 (GRCm39)	S314P	probably benign	Het
Nwd2	G	A	5: 63,961,895 (GRCm39)	R493H	probably benign	Het
Or4f58	T	C	2: 111,851,792 (GRCm39)	M136V	possibly damaging	Het
Or5an11	A	T	19: 12,245,759 (GRCm39)	H55L	possibly damaging	Het
Palm	C	T	10: 79,652,618 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,162,752 (GRCm39)	E1115G	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prrc2b	T	C	2: 32,096,359 (GRCm39)	F577L	probably benign	Het
Rnpepl1	A	T	1: 92,844,662 (GRCm39)	T385S	possibly damaging	Het
Serpinb7	A	T	1: 107,356,081 (GRCm39)	I35F	probably damaging	Het
Srbd1	C	T	17: 86,365,187 (GRCm39)	S623N	probably benign	Het
Tchh	A	G	3: 93,354,700 (GRCm39)	E1380G	unknown	Het
Tet2	G	T	3: 133,172,592 (GRCm39)	A1890D	possibly damaging	Het
Tfr2	G	T	5: 137,572,913 (GRCm39)	V215F	probably benign	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vwde	T	A	6: 13,208,374 (GRCm39)	L169F	probably 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
R2851:Mthfsd	UTSW	8	121,832,512 (GRCm39)	missense	probably benign	0.38
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'- ACACAGTGGCAGCTAGTTG -3'
(R):5'- AGTGATAGAACGCGTGTCCTG -3'

Sequencing Primer
(F):5'- CAGCTAGTTGGGTGTCCGC -3'
(R):5'- ATAGAACGCGTGTCCTGACTGTG -3'

Posted On

2015-02-18