Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02186:Mtrr'

283646

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtrr

Ensembl Gene

ENSMUSG00000034617

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02186

Quality Score

Status

Chromosome

Chromosomal Location

68708899-68730268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68712476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 637 (T637A)

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 benign
Transcript: ENSMUST00000045827
AA Change: T637A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617
AA Change: T637A

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

unknown
Transcript: ENSMUST00000220544
AA Change: T169A

Predicted Effect

probably benign
Transcript: ENSMUST00000223101

Predicted Effect

probably benign
Transcript: ENSMUST00000223398
AA Change: T637A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,811 (GRCm39)	F100S	unknown	Het
Abca3	A	G	17: 24,596,714 (GRCm39)	Y389C	possibly damaging	Het
Acrbp	G	T	6: 125,031,773 (GRCm39)		probably null	Het
Adam21	G	A	12: 81,605,983 (GRCm39)	T593I	possibly damaging	Het
Adipor1	T	A	1: 134,353,698 (GRCm39)	M161K	probably benign	Het
Agrp	A	T	8: 106,293,821 (GRCm39)	N48K	probably benign	Het
Asprv1	A	T	6: 86,605,900 (GRCm39)	M249L	probably damaging	Het
Begain	A	G	12: 108,999,278 (GRCm39)	Y703H	probably damaging	Het
Bspry	T	A	4: 62,414,226 (GRCm39)		probably benign	Het
Cct8l1	T	G	5: 25,721,836 (GRCm39)	S184A	probably benign	Het
Cdk13	C	T	13: 17,947,112 (GRCm39)	V549I	probably benign	Het
Cdyl2	C	T	8: 117,306,025 (GRCm39)	R412Q	possibly damaging	Het
Celf6	T	C	9: 59,510,808 (GRCm39)	S205P	probably damaging	Het
Cltc	G	A	11: 86,595,811 (GRCm39)	A1263V	possibly damaging	Het
Cltc	C	A	11: 86,595,812 (GRCm39)	A1263S	possibly damaging	Het
Ctnnd2	T	A	15: 30,480,939 (GRCm39)	F62L	probably damaging	Het
Dlec1	T	A	9: 118,972,695 (GRCm39)	C1473S	probably benign	Het
Dmbt1	T	A	7: 130,694,986 (GRCm39)		probably benign	Het
Dnase1	G	A	16: 3,856,896 (GRCm39)	V176I	probably benign	Het
Dusp1	G	T	17: 26,726,032 (GRCm39)	Y220*	probably null	Het
Enpp3	A	C	10: 24,667,881 (GRCm39)		probably benign	Het
Exosc10	T	C	4: 148,649,755 (GRCm39)	L395P	probably damaging	Het
Fn1	T	C	1: 71,677,693 (GRCm39)	K533R	probably damaging	Het
Gcm2	T	A	13: 41,258,125 (GRCm39)	T168S	possibly damaging	Het
Gm9924	C	A	5: 31,252,491 (GRCm39)		probably benign	Het
Ifrd1	A	G	12: 40,264,092 (GRCm39)	V101A	probably benign	Het
Iqsec1	G	T	6: 90,653,859 (GRCm39)	Q629K	probably damaging	Het
Kcnma1	T	A	14: 23,576,881 (GRCm39)	M254L	probably benign	Het
Krit1	T	C	5: 3,859,733 (GRCm39)		probably benign	Het
Letm1	T	C	5: 33,902,391 (GRCm39)	K633E	probably benign	Het
Mfsd1	A	G	3: 67,503,928 (GRCm39)	I307V	probably benign	Het
Naxe	C	A	3: 87,964,305 (GRCm39)	D212Y	probably damaging	Het
Nlk	A	T	11: 78,477,762 (GRCm39)	V327D	probably damaging	Het
Or2f1b	A	G	6: 42,739,880 (GRCm39)	K298R	probably null	Het
Or5w11	A	T	2: 87,459,715 (GRCm39)	I187F	probably benign	Het
Pdzd8	C	T	19: 59,289,060 (GRCm39)	G780D	probably damaging	Het
Prune1	T	C	3: 95,166,548 (GRCm39)		probably benign	Het
Qser1	A	T	2: 104,618,606 (GRCm39)	H645Q	probably damaging	Het
Rd3l	A	G	12: 111,945,901 (GRCm39)	Y193H	probably benign	Het
Reln	A	G	5: 22,114,956 (GRCm39)	Y3119H	probably damaging	Het
Scel	C	T	14: 103,802,257 (GRCm39)	A219V	probably benign	Het
Skint11	A	T	4: 114,101,833 (GRCm39)	Q91L	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc5a5	C	A	8: 71,338,764 (GRCm39)	D516Y	possibly damaging	Het
Slc8b1	G	A	5: 120,665,928 (GRCm39)		probably null	Het
Slc9a3	A	G	13: 74,311,233 (GRCm39)	E576G	possibly damaging	Het
Slco1b2	A	T	6: 141,580,271 (GRCm39)		probably benign	Het
Smc5	A	G	19: 23,209,223 (GRCm39)	V647A	probably damaging	Het
Snph	T	C	2: 151,436,263 (GRCm39)	N222D	possibly damaging	Het
Srbd1	A	G	17: 86,416,659 (GRCm39)	F500L	probably benign	Het
Stxbp6	T	C	12: 44,948,806 (GRCm39)	D101G	probably damaging	Het
Taar7b	A	G	10: 23,875,879 (GRCm39)	I15V	probably benign	Het
Tdrd12	G	T	7: 35,200,826 (GRCm39)	N338K	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem219	A	T	7: 126,495,988 (GRCm39)	D128E	probably benign	Het
Togaram2	A	G	17: 71,992,166 (GRCm39)	T3A	possibly damaging	Het
Ttn	C	T	2: 76,724,627 (GRCm39)		probably benign	Het
Uchl1	C	A	5: 66,834,382 (GRCm39)	C47*	probably null	Het
Unc79	T	G	12: 102,977,542 (GRCm39)	S182A	probably benign	Het
Vmn2r1	A	G	3: 63,989,138 (GRCm39)	T26A	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vps54	T	C	11: 21,256,947 (GRCm39)	V685A	probably damaging	Het
Zcchc7	T	G	4: 44,762,250 (GRCm39)	V126G	possibly damaging	Het
Zmym2	A	G	14: 57,180,808 (GRCm39)	T907A	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
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
R6477:Mtrr	UTSW	13	68,718,192 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16