Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Mthfsd'

16935

Institutional Source

Beutler Lab

Gene Symbol

Mthfsd

Ensembl Gene

ENSMUSG00000031816

Gene Name

methenyltetrahydrofolate synthetase domain containing

Synonyms

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121091628-121108392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121098739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 270 (V270F)

Ref Sequence

ENSEMBL: ENSMUSP00000115382 (fasta)

Gene Model

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

AlphaFold

Q3URQ7

Predicted Effect

silent
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

silent
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
AA Change: V289F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117429
Gene: ENSMUSG00000031816
AA Change: V289F

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

probably benign
Transcript: ENSMUST00000134758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138908

Predicted Effect

probably benign
Transcript: ENSMUST00000139782
AA Change: V270F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115382
Gene: ENSMUSG00000031816
AA Change: V270F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213028

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 120,373,685		probably benign	Het
Acpp	A	G	9: 104,324,218		probably benign	Het
Ada	T	A	2: 163,727,603		probably benign	Het
Ankrd17	T	A	5: 90,244,406	K1693*	probably null	Het
Arhgef38	T	A	3: 133,160,746	H210L	possibly damaging	Het
Car10	G	A	11: 93,490,597	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274		probably benign	Het
Cd19	T	C	7: 126,410,862	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840		probably benign	Het
Cerkl	A	T	2: 79,343,289	S259T	possibly damaging	Het
Cog8	T	C	8: 107,054,133	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497		probably null	Het
Dcc	G	A	18: 71,321,046	Q1241*	probably null	Het
Dock3	A	C	9: 106,911,486		probably benign	Het
Dus1l	A	T	11: 120,792,808		probably benign	Het
Dvl2	G	A	11: 70,008,100	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753	F85S	probably damaging	Het
Fam234b	A	G	6: 135,227,226	M456V	probably benign	Het
Fbxo47	G	A	11: 97,857,655		probably benign	Het
Fyb2	A	G	4: 104,945,464	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705		probably benign	Het
Ifitm6	T	A	7: 141,016,007	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059		probably benign	Het
Maats1	G	A	16: 38,302,684	Q661*	probably null	Het
Mark1-ps1	T	A	17: 53,947,877		noncoding transcript	Het
Mndal	G	T	1: 173,874,447	C96*	probably null	Het
Mroh1	T	C	15: 76,451,140	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442		probably benign	Het
Nbas	T	A	12: 13,324,336	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414		probably benign	Het
Polr2b	T	A	5: 77,326,561	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039		probably benign	Het
Rad54b	G	A	4: 11,609,480		probably benign	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Scn7a	A	G	2: 66,714,037	V370A	probably benign	Het
Sec1	A	G	7: 45,678,891	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937		probably benign	Het
Slco2b1	A	T	7: 99,685,501	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217		probably null	Het
Vmn2r84	A	G	10: 130,394,193	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694		probably benign	Het
Zfp532	T	A	18: 65,685,627	S851R	probably benign	Het
Zfp623	G	A	15: 75,947,209	E5K	probably benign	Het

Other mutations in Mthfsd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Mthfsd	APN	8	121104468	missense	probably damaging	1.00
IGL03002:Mthfsd	APN	8	121108279	splice site	probably benign
R0416:Mthfsd	UTSW	8	121101237	missense	probably damaging	1.00
R0745:Mthfsd	UTSW	8	121102949	missense	probably damaging	1.00
R2157:Mthfsd	UTSW	8	121101501	missense	probably damaging	1.00
R2851:Mthfsd	UTSW	8	121105773	missense	probably benign	0.38
R3439:Mthfsd	UTSW	8	121099121	missense	possibly damaging	0.89
R4207:Mthfsd	UTSW	8	121105626	missense	probably damaging	1.00
R4456:Mthfsd	UTSW	8	121105765	missense	possibly damaging	0.89
R4757:Mthfsd	UTSW	8	121098998	critical splice donor site	probably null
R5154:Mthfsd	UTSW	8	121098740	missense	probably damaging	1.00
R5208:Mthfsd	UTSW	8	121108319	unclassified	probably benign
R5496:Mthfsd	UTSW	8	121098814	nonsense	probably null
R6652:Mthfsd	UTSW	8	121098821	missense	probably damaging	1.00
R7309:Mthfsd	UTSW	8	121108331	unclassified	probably benign
R7538:Mthfsd	UTSW	8	121098786	missense	probably benign	0.41
R8072:Mthfsd	UTSW	8	121098816	missense	probably damaging	1.00
R9759:Mthfsd	UTSW	8	121097876	missense	probably benign	0.01

Posted On

2013-01-20