Mutagenetix > Incidental Mutation

Incidental Mutation 'R7346:Mrm3'

570213

Institutional Source

Beutler Lab

Gene Symbol

Mrm3

Ensembl Gene

ENSMUSG00000038046

Gene Name

mitochondrial rRNA methyltransferase 3

Synonyms

4833420N02Rik, Rnmtl1, HC90

MMRRC Submission

045373-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7346 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76134562-76141451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76141002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 337 (V337I)

Ref Sequence

ENSEMBL: ENSMUSP00000042882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040577]

AlphaFold

Q5ND52

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040577
AA Change: V337I

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046
AA Change: V337I

Domain	Start	End	E-Value	Type
SpoU_sub_bind	124	195	1.99e-5	SMART
Pfam:SpoU_methylase	209	398	2.3e-24	PFAM

Meta Mutation Damage Score

0.0982

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,914,587 (GRCm39)	P52S	unknown	Het
Adarb2	A	G	13: 8,620,420 (GRCm39)	E302G	probably damaging	Het
Adgrf5	T	A	17: 43,762,070 (GRCm39)	L1255H	probably damaging	Het
Adra1a	T	A	14: 66,875,733 (GRCm39)	I236N	probably benign	Het
As3mt	T	C	19: 46,708,891 (GRCm39)	F295S	probably damaging	Het
Bmp5	G	A	9: 75,780,642 (GRCm39)	R313Q	probably damaging	Het
Ccnj	T	A	19: 40,833,394 (GRCm39)	S191T	probably benign	Het
Clk2	T	A	3: 89,080,852 (GRCm39)		probably null	Het
Cpz	T	C	5: 35,675,000 (GRCm39)	E83G	probably damaging	Het
Cts3	A	G	13: 61,715,434 (GRCm39)	I133T	probably benign	Het
Dars2	C	T	1: 160,874,342 (GRCm39)		probably null	Het
Dsel	A	T	1: 111,788,798 (GRCm39)	V579D	probably damaging	Het
Dync1h1	C	A	12: 110,602,076 (GRCm39)	A2038E	probably damaging	Het
Eaf1	A	G	14: 31,216,777 (GRCm39)		probably benign	Het
Fsip2	A	C	2: 82,828,524 (GRCm39)	I6774L	probably benign	Het
Glis2	T	C	16: 4,431,432 (GRCm39)	F320L	possibly damaging	Het
Hcar1	A	G	5: 124,017,693 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,797,104 (GRCm39)	H2211Q	probably benign	Het
Hmcn1	A	G	1: 150,559,496 (GRCm39)	I2385T	probably damaging	Het
Ifi44	T	A	3: 151,438,094 (GRCm39)	M398L	probably benign	Het
Il16	C	T	7: 83,293,249 (GRCm39)	E1273K	probably damaging	Het
Inpp5j	G	A	11: 3,451,065 (GRCm39)	T528I	probably damaging	Het
Kbtbd6	C	T	14: 79,690,627 (GRCm39)	P441S	probably damaging	Het
Kcnt1	C	T	2: 25,753,855 (GRCm39)		probably benign	Het
Kif26b	T	C	1: 178,358,306 (GRCm39)	L139P	probably damaging	Het
Klb	C	T	5: 65,505,974 (GRCm39)	Q74*	probably null	Het
L3mbtl1	G	A	2: 162,808,926 (GRCm39)	V600I	probably benign	Het
Lcp1	C	T	14: 75,447,946 (GRCm39)	A317V	possibly damaging	Het
Lipc	C	T	9: 70,720,029 (GRCm39)	G326D	probably damaging	Het
Mbnl2	T	A	14: 120,616,694 (GRCm39)	F103I	probably benign	Het
Mdm1	G	T	10: 118,000,193 (GRCm39)	E609*	probably null	Het
Med16	A	G	10: 79,744,650 (GRCm39)		probably null	Het
Mga	T	C	2: 119,766,008 (GRCm39)	V1424A	possibly damaging	Het
Mocs2	G	T	13: 114,964,710 (GRCm39)		probably null	Het
Morc1	C	T	16: 48,451,263 (GRCm39)		probably null	Het
Mpc2	T	A	1: 165,307,080 (GRCm39)	W94R	probably damaging	Het
N4bp3	T	C	11: 51,536,433 (GRCm39)	H133R	probably benign	Het
Ncam2	G	T	16: 81,420,256 (GRCm39)	G810V	probably damaging	Het
Nipbl	T	C	15: 8,373,090 (GRCm39)	E1052G	possibly damaging	Het
Nlrp12	C	T	7: 3,297,887 (GRCm39)	V95M	probably damaging	Het
Nrip1	T	C	16: 76,090,244 (GRCm39)	N438D	possibly damaging	Het
Nsun4	C	A	4: 115,909,035 (GRCm39)	M508I	probably benign	Het
Pla2g2c	T	C	4: 138,461,650 (GRCm39)	S40P	probably damaging	Het
Plec	A	G	15: 76,082,178 (GRCm39)		probably null	Het
Ppfia2	G	T	10: 106,693,356 (GRCm39)	M620I	possibly damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prkd1	A	T	12: 50,695,617 (GRCm39)	I47N	possibly damaging	Het
Prr14l	T	C	5: 32,988,028 (GRCm39)	D489G	probably benign	Het
Ptch2	T	A	4: 116,971,849 (GRCm39)	Y1124N	probably benign	Het
Ptpra	T	G	2: 130,395,320 (GRCm39)	Y808D	probably damaging	Het
Rint1	T	A	5: 24,020,651 (GRCm39)	F558Y	possibly damaging	Het
Rnf215	T	A	11: 4,089,792 (GRCm39)	C268*	probably null	Het
Slc25a13	T	C	6: 6,181,100 (GRCm39)	E28G	possibly damaging	Het
Slc38a8	G	T	8: 120,226,554 (GRCm39)	Y78*	probably null	Het
Slc4a7	T	C	14: 14,775,000 (GRCm38)	M810T	probably damaging	Het
Slitrk1	A	G	14: 109,150,591 (GRCm39)	V40A	possibly damaging	Het
Sobp	A	T	10: 42,898,831 (GRCm39)	S251R	probably damaging	Het
Spata31d1a	G	A	13: 59,851,015 (GRCm39)	S371L	probably benign	Het
Tada2b	T	C	5: 36,634,180 (GRCm39)	T133A	possibly damaging	Het
Tbc1d20	A	G	2: 152,146,881 (GRCm39)	D90G	probably benign	Het
Tek	T	A	4: 94,715,533 (GRCm39)	I408K	probably benign	Het
Tgfb2	A	G	1: 186,382,077 (GRCm39)	F150S	probably benign	Het
Tmem63b	T	C	17: 45,977,517 (GRCm39)	T370A	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tspan17	C	G	13: 54,940,434 (GRCm39)	L34V	probably benign	Het
Vmn1r238	A	T	18: 3,123,151 (GRCm39)	Y88N	probably damaging	Het
Vmn1r85	A	G	7: 12,818,964 (GRCm39)	I60T	probably damaging	Het
Vmn2r96	T	C	17: 18,803,029 (GRCm39)	M313T	probably benign	Het
Zp3r	G	A	1: 130,511,217 (GRCm39)	S387F	probably benign	Het

Other mutations in Mrm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Mrm3	APN	11	76,135,319 (GRCm39)	missense	probably damaging	1.00
IGL02712:Mrm3	APN	11	76,134,683 (GRCm39)	missense	possibly damaging	0.87
IGL03349:Mrm3	APN	11	76,140,772 (GRCm39)	missense	probably damaging	1.00
Sam-i-am	UTSW	11	76,138,286 (GRCm39)	missense	possibly damaging	0.94
P0026:Mrm3	UTSW	11	76,138,326 (GRCm39)	missense	probably damaging	1.00
R0118:Mrm3	UTSW	11	76,140,781 (GRCm39)	missense	possibly damaging	0.94
R1174:Mrm3	UTSW	11	76,140,850 (GRCm39)	missense	probably damaging	1.00
R2066:Mrm3	UTSW	11	76,141,147 (GRCm39)	missense	probably damaging	1.00
R2114:Mrm3	UTSW	11	76,135,347 (GRCm39)	missense	possibly damaging	0.49
R3904:Mrm3	UTSW	11	76,135,112 (GRCm39)	missense	probably benign	0.05
R5591:Mrm3	UTSW	11	76,140,907 (GRCm39)	missense	probably benign
R7343:Mrm3	UTSW	11	76,140,726 (GRCm39)	missense	probably damaging	1.00
R8010:Mrm3	UTSW	11	76,141,173 (GRCm39)	missense	probably damaging	1.00
R8355:Mrm3	UTSW	11	76,141,164 (GRCm39)	missense	possibly damaging	0.91
R8461:Mrm3	UTSW	11	76,135,158 (GRCm39)	missense	probably damaging	1.00
R9001:Mrm3	UTSW	11	76,141,234 (GRCm39)	missense	probably benign
R9371:Mrm3	UTSW	11	76,138,286 (GRCm39)	missense	possibly damaging	0.94
R9389:Mrm3	UTSW	11	76,140,856 (GRCm39)	missense	probably damaging	1.00
R9525:Mrm3	UTSW	11	76,141,104 (GRCm39)	missense	possibly damaging	0.61
Z1186:Mrm3	UTSW	11	76,138,221 (GRCm39)	missense	probably benign	0.00
Z1187:Mrm3	UTSW	11	76,138,221 (GRCm39)	missense	probably benign	0.00
Z1187:Mrm3	UTSW	11	76,134,903 (GRCm39)	missense	probably benign
Z1188:Mrm3	UTSW	11	76,138,221 (GRCm39)	missense	probably benign	0.00
Z1188:Mrm3	UTSW	11	76,134,903 (GRCm39)	missense	probably benign
Z1189:Mrm3	UTSW	11	76,138,221 (GRCm39)	missense	probably benign	0.00
Z1189:Mrm3	UTSW	11	76,134,903 (GRCm39)	missense	probably benign
Z1190:Mrm3	UTSW	11	76,138,221 (GRCm39)	missense	probably benign	0.00
Z1190:Mrm3	UTSW	11	76,134,903 (GRCm39)	missense	probably benign
Z1192:Mrm3	UTSW	11	76,138,221 (GRCm39)	missense	probably benign	0.00
Z1192:Mrm3	UTSW	11	76,134,903 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGAAACAGTGCCCAATCAC -3'
(R):5'- GCTGCCTTTTCCCTTCAAAGAG -3'

Sequencing Primer
(F):5'- AGTGCCCAATCACTTGCC -3'
(R):5'- TTTCCCTTCAAAGAGCAGGATGC -3'

Posted On

2019-09-13