Mutagenetix > Incidental Mutation

Incidental Mutation 'R6477:Mtrr'

516860

Institutional Source

Beutler Lab

Gene Symbol

Mtrr

Ensembl Gene

ENSMUSG00000034617

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Synonyms

MMRRC Submission

044609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68708899-68730268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68718192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 357 (H357Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000223101] [ENSMUST00000223398]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045827
AA Change: H357Q

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

SMART Domains

Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617
AA Change: H357Q

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_5	5	126	2.7e-9	PFAM
Pfam:Flavodoxin_1	6	142	4.3e-32	PFAM
Pfam:FAD_binding_1	267	490	2.6e-51	PFAM
Pfam:NAD_binding_1	540	660	5.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220544

Predicted Effect

probably benign
Transcript: ENSMUST00000223101

Predicted Effect

probably damaging
Transcript: ENSMUST00000223398
AA Change: H357Q

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Mutations in a similar gene in human have been associated with cblE complementation type homocystinuria-megaloblastic anemia and susceptibility to folate-sensitive neural tube defects. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are viable and display a male-specific reduction in postnatal weight gain as well as hyperhomocysteinemia, hypomethionemia, increased tissue methyltetrahydrofolate, and AdoMet/AdoHcy ratios that range from high to slightly below normal. [provided by MGI curators]

Allele List at MGI

All alleles(46) : Gene trapped(46)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,696 (GRCm39)	D23G	probably benign	Het
Abca14	T	C	7: 119,924,325 (GRCm39)	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,409,494 (GRCm39)	V481M	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,443,230 (GRCm39)	R20*	probably null	Het
Cops7a	A	T	6: 124,937,139 (GRCm39)	V184E	probably damaging	Het
Cpa3	T	C	3: 20,293,739 (GRCm39)	E83G	possibly damaging	Het
Crls1	C	T	2: 132,703,153 (GRCm39)	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,700,791 (GRCm39)	S153R	probably damaging	Het
Ddx54	T	A	5: 120,759,843 (GRCm39)	I410N	probably damaging	Het
Dido1	T	A	2: 180,302,274 (GRCm39)	T1877S	probably benign	Het
Dip2c	A	G	13: 9,673,796 (GRCm39)	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,327,093 (GRCm39)	V681I	probably benign	Het
Dst	A	G	1: 34,247,809 (GRCm39)		probably null	Het
Eya2	A	G	2: 165,605,681 (GRCm39)	T362A	probably benign	Het
Garre1	A	G	7: 33,957,055 (GRCm39)		probably null	Het
Hgs	G	A	11: 120,360,481 (GRCm39)	V60M	probably damaging	Het
Inpp4b	A	G	8: 82,571,343 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kdr	C	A	5: 76,129,501 (GRCm39)	A129S	probably benign	Het
Lhcgr	A	T	17: 89,049,801 (GRCm39)	M575K	probably damaging	Het
Lsamp	G	T	16: 41,988,528 (GRCm39)		probably benign	Het
Mcm5	T	C	8: 75,839,230 (GRCm39)	V161A	probably benign	Het
Mmp14	A	T	14: 54,675,115 (GRCm39)	H249L	probably damaging	Het
Mroh5	A	G	15: 73,662,604 (GRCm39)	S405P	probably damaging	Het
Mroh9	C	A	1: 162,903,873 (GRCm39)	L46F	probably damaging	Het
Myrf	G	A	19: 10,206,149 (GRCm39)	P89L	probably benign	Het
Mzb1	C	T	18: 35,781,311 (GRCm39)		probably null	Het
Naip6	A	G	13: 100,452,516 (GRCm39)	S182P	probably damaging	Het
Nmur2	A	T	11: 55,920,417 (GRCm39)	F276Y	probably damaging	Het
Nudt12	G	T	17: 59,318,140 (GRCm39)	S35Y	probably benign	Het
Or51h5	T	A	7: 102,577,585 (GRCm39)	V250E	probably damaging	Het
Or56b1	T	C	7: 104,284,886 (GRCm39)	S2P	probably benign	Het
Or9m1	A	G	2: 87,733,334 (GRCm39)	S229P	probably damaging	Het
Osbpl1a	T	C	18: 12,889,318 (GRCm39)	I541V	probably benign	Het
Parp4	A	G	14: 56,884,694 (GRCm39)	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,801,022 (GRCm39)	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,586,627 (GRCm39)	T930A	probably benign	Het
Pomt1	G	A	2: 32,138,728 (GRCm39)		probably null	Het
Ppp1r14bl	A	T	1: 23,140,861 (GRCm39)	L151Q	probably benign	Het
Pramel6	A	G	2: 87,340,946 (GRCm39)	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,263,235 (GRCm39)	T83A	probably damaging	Het
Rbm27	T	A	18: 42,466,383 (GRCm39)	V915E	probably damaging	Het
Rnf114	T	A	2: 167,345,408 (GRCm39)	D10E	probably benign	Het
Sbk1	A	G	7: 125,890,350 (GRCm39)	E121G	probably damaging	Het
Senp6	A	T	9: 80,000,907 (GRCm39)	R39*	probably null	Het
Sergef	A	T	7: 46,283,250 (GRCm39)	I94N	probably benign	Het
Slc30a9	C	T	5: 67,485,867 (GRCm39)	R183W	probably benign	Het
Smurf1	C	T	5: 144,826,602 (GRCm39)	R414H	possibly damaging	Het
Sptb	A	T	12: 76,653,166 (GRCm39)	W1566R	probably damaging	Het
Tenm2	T	C	11: 35,901,334 (GRCm39)		probably null	Het
Tnni1	T	C	1: 135,733,304 (GRCm39)	V42A	probably benign	Het
Tnxb	A	G	17: 34,938,513 (GRCm39)	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,325,400 (GRCm39)	F46L	probably benign	Het
Ubqln5	G	A	7: 103,777,465 (GRCm39)	S453F	probably damaging	Het
Ubr3	A	T	2: 69,809,773 (GRCm39)	R1248*	probably null	Het
Utp20	A	G	10: 88,604,780 (GRCm39)	V1705A	probably benign	Het
Zfp60	G	A	7: 27,449,228 (GRCm39)	R632H	probably benign	Het
Zfp638	A	G	6: 83,942,560 (GRCm39)	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,629,029 (GRCm39)	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,545,960 (GRCm39)	K1355T	probably benign	Het

Other mutations in Mtrr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Mtrr	APN	13	68,719,266 (GRCm39)	missense	probably damaging	1.00
IGL01806:Mtrr	APN	13	68,728,719 (GRCm39)	missense	possibly damaging	0.92
IGL01808:Mtrr	APN	13	68,714,212 (GRCm39)	missense	probably benign	0.00
IGL01875:Mtrr	APN	13	68,720,728 (GRCm39)	missense	probably damaging	1.00
IGL02137:Mtrr	APN	13	68,716,920 (GRCm39)	missense	possibly damaging	0.75
IGL02186:Mtrr	APN	13	68,712,476 (GRCm39)	missense	probably benign
IGL03114:Mtrr	APN	13	68,712,441 (GRCm39)	nonsense	probably null
3-1:Mtrr	UTSW	13	68,723,135 (GRCm39)	critical splice donor site	probably null
H8562:Mtrr	UTSW	13	68,712,496 (GRCm39)	missense	probably damaging	0.97
N/A:Mtrr	UTSW	13	68,723,516 (GRCm39)	splice site	probably benign
R0007:Mtrr	UTSW	13	68,723,449 (GRCm39)	missense	probably benign	0.02
R0741:Mtrr	UTSW	13	68,727,658 (GRCm39)	splice site	probably null
R2140:Mtrr	UTSW	13	68,717,059 (GRCm39)	missense	possibly damaging	0.47
R2513:Mtrr	UTSW	13	68,715,092 (GRCm39)	nonsense	probably null
R4604:Mtrr	UTSW	13	68,712,631 (GRCm39)	splice site	probably null
R5501:Mtrr	UTSW	13	68,727,766 (GRCm39)	missense	probably damaging	1.00
R5658:Mtrr	UTSW	13	68,717,034 (GRCm39)	missense	possibly damaging	0.67
R6694:Mtrr	UTSW	13	68,712,452 (GRCm39)	missense	probably benign
R6979:Mtrr	UTSW	13	68,718,122 (GRCm39)	critical splice donor site	probably null
R7094:Mtrr	UTSW	13	68,727,803 (GRCm39)	missense	possibly damaging	0.83
R7296:Mtrr	UTSW	13	68,716,979 (GRCm39)	nonsense	probably null
R7354:Mtrr	UTSW	13	68,714,326 (GRCm39)	missense	probably damaging	1.00
R7378:Mtrr	UTSW	13	68,712,521 (GRCm39)	missense	probably damaging	1.00
R7546:Mtrr	UTSW	13	68,730,268 (GRCm39)	unclassified	probably benign
R7562:Mtrr	UTSW	13	68,714,336 (GRCm39)	missense	probably damaging	0.96
R7759:Mtrr	UTSW	13	68,718,146 (GRCm39)	missense	probably damaging	1.00
R7975:Mtrr	UTSW	13	68,727,666 (GRCm39)	splice site	probably null
R8101:Mtrr	UTSW	13	68,725,740 (GRCm39)	missense	probably damaging	1.00
R8168:Mtrr	UTSW	13	68,720,732 (GRCm39)	missense	probably benign	0.00
R9097:Mtrr	UTSW	13	68,723,441 (GRCm39)	missense	probably benign	0.28
R9260:Mtrr	UTSW	13	68,728,674 (GRCm39)	missense	possibly damaging	0.70
R9295:Mtrr	UTSW	13	68,719,258 (GRCm39)	missense	possibly damaging	0.94
R9516:Mtrr	UTSW	13	68,720,755 (GRCm39)	missense	probably benign	0.00
R9517:Mtrr	UTSW	13	68,728,730 (GRCm39)	missense	probably benign	0.06
R9627:Mtrr	UTSW	13	68,725,756 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCAGCAGTAACCAAGTGG -3'
(R):5'- AGTCGCAGCTGGAACATTG -3'

Sequencing Primer
(F):5'- CCAAGTGGCACTGCACAGATG -3'
(R):5'- GCTGGAACATTGCCATAAGTC -3'

Posted On

2018-05-21