Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Mtrr'

571652

Institutional Source

Beutler Lab

Gene Symbol

Mtrr

Ensembl Gene

ENSMUSG00000034617

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Synonyms

MMRRC Submission

045400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68708899-68730268 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 68716979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 411 (Y411*)

Ref Sequence

ENSEMBL: ENSMUSP00000039810 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000045827
AA Change: Y411*

SMART Domains

Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617
AA Change: Y411*

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 null
Transcript: ENSMUST00000223398
AA Change: Y411*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,302 (GRCm39)	M226K	probably benign	Het
4921524L21Rik	T	G	18: 6,626,385 (GRCm39)	S132R	probably damaging	Het
A4gnt	T	G	9: 99,502,335 (GRCm39)	I165S	probably damaging	Het
Abca14	G	A	7: 119,877,534 (GRCm39)	D1061N	probably benign	Het
Abcc9	G	A	6: 142,617,319 (GRCm39)	P582S	probably damaging	Het
Abhd5	G	A	9: 122,208,638 (GRCm39)	V343I	probably benign	Het
Adam6a	C	T	12: 113,509,192 (GRCm39)	R522C	probably damaging	Het
Ankle2	G	A	5: 110,385,590 (GRCm39)	R313H	probably damaging	Het
Aplf	G	A	6: 87,623,197 (GRCm39)	T315I	probably damaging	Het
Asic5	C	T	3: 81,928,383 (GRCm39)	P491S	probably benign	Het
Atp5f1b	T	C	10: 127,921,391 (GRCm39)	Y230H	probably benign	Het
B4galt6	A	T	18: 20,861,099 (GRCm39)	I51N	probably damaging	Het
Bmal2	G	A	6: 146,723,632 (GRCm39)	V321I	not run	Het
C4b	A	G	17: 34,962,633 (GRCm39)	L23S	probably damaging	Het
Cables2	A	G	2: 179,902,129 (GRCm39)	V410A		Het
Ccdc168	T	A	1: 44,100,076 (GRCm39)	K341*	probably null	Het
Cdyl	A	G	13: 36,047,378 (GRCm39)	M489V	probably damaging	Het
Clip4	T	C	17: 72,096,996 (GRCm39)	M40T	probably damaging	Het
Col12a1	T	C	9: 79,589,348 (GRCm39)	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,755,708 (GRCm39)	M194V	probably benign	Het
Colec11	T	A	12: 28,644,714 (GRCm39)	D260V	probably damaging	Het
Cracdl	T	C	1: 37,653,699 (GRCm39)	T1036A	possibly damaging	Het
Cux2	T	C	5: 121,999,319 (GRCm39)	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,501,436 (GRCm39)	N297K	possibly damaging	Het
Dmbt1	A	G	7: 130,713,861 (GRCm39)	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,556,946 (GRCm39)	T288A	probably benign	Het
Dock8	T	A	19: 25,162,245 (GRCm39)	F1842I	probably benign	Het
Dysf	A	G	6: 84,083,880 (GRCm39)	I740V	probably benign	Het
Epha6	T	A	16: 59,736,201 (GRCm39)	M778L	probably benign	Het
Eri2	A	T	7: 119,385,739 (GRCm39)	L254*	probably null	Het
Fam43b	A	G	4: 138,123,152 (GRCm39)	F56S	probably damaging	Het
Fat4	C	A	3: 38,943,294 (GRCm39)	S729*	probably null	Het
Fbxw22	C	A	9: 109,211,143 (GRCm39)	W386L	probably benign	Het
Fgd6	T	A	10: 93,879,909 (GRCm39)	C254*	probably null	Het
Fgd6	C	A	10: 93,975,743 (GRCm39)	T1386K	probably benign	Het
Fkbp7	G	T	2: 76,502,108 (GRCm39)	D98E	possibly damaging	Het
Hectd1	C	T	12: 51,832,635 (GRCm39)	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,769,841 (GRCm39)	M105K	probably benign	Het
Icam1	A	C	9: 20,930,311 (GRCm39)	D55A	probably benign	Het
Itga2	A	C	13: 114,993,930 (GRCm39)		probably null	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Klra17	T	A	6: 129,808,555 (GRCm39)	N226I	possibly damaging	Het
Krt1	T	A	15: 101,759,064 (GRCm39)	R33S	unknown	Het
L3mbtl3	T	A	10: 26,158,728 (GRCm39)	D615V	unknown	Het
Lrp2	T	A	2: 69,312,725 (GRCm39)	Y2521F	probably benign	Het
Megf10	A	T	18: 57,408,825 (GRCm39)	N589I	probably damaging	Het
Metap1d	G	C	2: 71,337,129 (GRCm39)	G14A	probably benign	Het
Mfap5	T	A	6: 122,505,381 (GRCm39)	D162E	probably benign	Het
Mixl1	T	C	1: 180,524,523 (GRCm39)	I19V	probably benign	Het
Myh7	T	C	14: 55,227,482 (GRCm39)	T318A	probably benign	Het
Nbeal1	T	A	1: 60,349,383 (GRCm39)	Y2348*	probably null	Het
Nhsl3	A	G	4: 129,119,211 (GRCm39)	Y170H	probably damaging	Het
Niban2	T	C	2: 32,812,654 (GRCm39)	S468P	possibly damaging	Het
Nlrc3	T	C	16: 3,781,454 (GRCm39)	S668G	probably damaging	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or10ag59	T	A	2: 87,406,052 (GRCm39)	V208E	probably damaging	Het
Or12j2	A	T	7: 139,916,654 (GRCm39)	D293V	possibly damaging	Het
Or4c117	C	A	2: 88,955,180 (GRCm39)	R298S	probably benign	Het
Pcna	A	G	2: 132,094,797 (GRCm39)	S54P	probably benign	Het
Pde6a	A	G	18: 61,391,364 (GRCm39)	T570A	probably damaging	Het
Phf21b	A	T	15: 84,739,918 (GRCm39)	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prob1	A	G	18: 35,786,352 (GRCm39)	F634S	possibly damaging	Het
Prss50	A	G	9: 110,690,357 (GRCm39)	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,816,692 (GRCm39)	V249A	probably damaging	Het
Rai1	G	A	11: 60,079,499 (GRCm39)	V1188I	probably benign	Het
Ric1	G	A	19: 29,561,978 (GRCm39)		probably null	Het
Robo1	C	T	16: 72,786,519 (GRCm39)	Q844*	probably null	Het
Rpn1	A	G	6: 88,061,619 (GRCm39)	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,277,810 (GRCm39)	M348L	probably benign	Het
Setd4	T	C	16: 93,380,830 (GRCm39)		probably null	Het
Setd5	T	G	6: 113,124,518 (GRCm39)	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,289,084 (GRCm39)	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,937,121 (GRCm39)	S113*	probably null	Het
Syne2	T	A	12: 76,149,810 (GRCm39)	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,192,373 (GRCm39)	I38L	probably damaging	Het
Tepsin	G	T	11: 119,982,534 (GRCm39)	T512K	possibly damaging	Het
Utp20	A	G	10: 88,606,586 (GRCm39)	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,659,509 (GRCm39)	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 41,785,826 (GRCm39)	S210T	probably benign	Het
Wdr6	G	T	9: 108,451,784 (GRCm39)	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,052,790 (GRCm39)	T29A	probably benign	Het
Zfp335	A	G	2: 164,742,052 (GRCm39)	I614T	probably damaging	Het
Zfp54	T	A	17: 21,653,844 (GRCm39)	S113T	probably benign	Het
Zfp873	T	A	10: 81,897,071 (GRCm39)	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,325,146 (GRCm39)		probably null	Het
Zmynd8	T	C	2: 165,681,929 (GRCm39)	T201A	probably damaging	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
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
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'- ATAGCCGGCCTTCTTCACTATG -3'
(R):5'- TACTGCGATAGTCTTTGTACAGG -3'

Sequencing Primer
(F):5'- TCACTATGCAGAGGCTCACTAAAGTG -3'
(R):5'- ACAAGCTCTCACCCTGTAACTGTG -3'

Posted On

2019-09-13