Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Mthfsd'

318971

Institutional Source

Beutler Lab

Gene Symbol

Mthfsd

Ensembl Gene

ENSMUSG00000031816

Gene Name

methenyltetrahydrofolate synthetase domain containing

Synonyms

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121091628-121108392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121105626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 133 (V133A)

Ref Sequence

ENSEMBL: ENSMUSP00000119673 (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 damaging
Transcript: ENSMUST00000126431
AA Change: V133A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119673
Gene: ENSMUSG00000031816
AA Change: V133A

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: V61A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117429
Gene: ENSMUSG00000031816
AA Change: V61A

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 damaging
Transcript: ENSMUST00000134758
AA Change: V42A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138908

Predicted Effect

probably damaging
Transcript: ENSMUST00000139782
AA Change: V42A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115382
Gene: ENSMUSG00000031816
AA Change: V42A

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

noncoding transcript
Transcript: ENSMUST00000149718

Predicted Effect

probably benign
Transcript: ENSMUST00000151576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213028

Meta Mutation Damage Score

0.7832

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	probably damaging	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
R0076:Mthfsd	UTSW	8	121098739	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGAGACTTCGTATCAGACTTC -3'
(R):5'- TGCAAGCTTTCCATGTGGC -3'

Sequencing Primer
(F):5'- GACTTCGTATCAGACTTCTAACTGAG -3'
(R):5'- AGCTTTCCATGTGGCCAGAAC -3'

Posted On

2015-06-10