Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Mrm3'

710497

Institutional Source

Beutler Lab

Gene Symbol

Mrm3

Ensembl Gene

ENSMUSG00000038046

Gene Name

mitochondrial rRNA methyltransferase 3

Synonyms

4833420N02Rik, Rnmtl1, HC90

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76134562-76141451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76140856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 288 (D288G)

Ref Sequence

ENSEMBL: ENSMUSP00000042882 (fasta)

Gene Model

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

AlphaFold

Q5ND52

Predicted Effect

probably damaging
Transcript: ENSMUST00000040577
AA Change: D288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046
AA Change: D288G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,875,614 (GRCm39)	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,613,884 (GRCm39)	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,479,271 (GRCm39)	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,963,608 (GRCm39)	E828D	probably damaging	Het
Ces1f	A	T	8: 93,996,600 (GRCm39)		probably null	Het
Cfap53	T	A	18: 74,432,414 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,877,983 (GRCm39)	Y1998C	probably damaging	Het
Col9a2	A	G	4: 120,911,948 (GRCm39)	T675A	probably benign	Het
Dusp6	G	A	10: 99,099,839 (GRCm39)	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,369,661 (GRCm39)	M22R	probably benign	Het
Fem1al	A	G	11: 29,775,107 (GRCm39)	S117P	probably damaging	Het
Gm19965	A	G	1: 116,749,566 (GRCm39)	N416D		Het
Gpr162	A	G	6: 124,838,357 (GRCm39)	Y98H	probably damaging	Het
Igfals	G	A	17: 25,100,600 (GRCm39)	V564I	probably benign	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Itgb1	T	A	8: 129,433,637 (GRCm39)	N50K	probably benign	Het
Itpr3	A	T	17: 27,314,899 (GRCm39)	Y682F	possibly damaging	Het
Jak3	C	T	8: 72,136,696 (GRCm39)	P668S	probably damaging	Het
Malrd1	A	T	2: 15,707,967 (GRCm39)	N932I	unknown	Het
Mast4	C	A	13: 103,470,438 (GRCm39)	R88L	probably benign	Het
Mfsd11	T	G	11: 116,764,161 (GRCm39)	S381A	probably benign	Het
Myg1	G	T	15: 102,245,372 (GRCm39)	V198F	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Npy6r	T	C	18: 44,408,759 (GRCm39)	I60T	probably damaging	Het
Or12j3	T	C	7: 139,952,930 (GRCm39)	T198A	probably benign	Het
Or13p3	A	T	4: 118,567,353 (GRCm39)	M250L	probably benign	Het
Or4f57	G	T	2: 111,790,872 (GRCm39)	P182H	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or5k14	C	T	16: 58,692,976 (GRCm39)	C179Y	probably damaging	Het
Or6c215	G	A	10: 129,637,540 (GRCm39)	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,893,841 (GRCm39)		probably benign	Het
Oxtr	C	A	6: 112,466,310 (GRCm39)	R150L	probably damaging	Het
Pappa	A	T	4: 65,099,125 (GRCm39)	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,912,890 (GRCm39)	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,132,781 (GRCm39)	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,777,577 (GRCm39)	L81Q	probably damaging	Het
Prss3b	C	T	6: 41,010,079 (GRCm39)	G85D	probably benign	Het
Ptprf	C	A	4: 118,093,236 (GRCm39)	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,304 (GRCm39)	N322K	probably damaging	Het
Rev3l	T	A	10: 39,698,967 (GRCm39)	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,151,131 (GRCm39)	Y96C	probably damaging	Het
Runx1	C	T	16: 92,410,568 (GRCm39)	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,466,092 (GRCm39)	Q125P	probably damaging	Het
Skic3	A	G	13: 76,275,158 (GRCm39)	D403G	probably benign	Het
Spef2	A	T	15: 9,725,307 (GRCm39)	M150K	probably damaging	Het
Srcap	T	G	7: 127,141,455 (GRCm39)	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,283,365 (GRCm39)	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811 (GRCm39)	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,179,193 (GRCm39)	D4427G	possibly damaging	Het
Tg	T	A	15: 66,561,173 (GRCm39)	M1065K	probably benign	Het
Tgm2	T	C	2: 157,959,816 (GRCm39)	T656A	probably benign	Het
Ubr4	A	G	4: 139,153,235 (GRCm39)	K809E		Het
Vmn1r88	T	C	7: 12,912,546 (GRCm39)	S301P	probably damaging	Het
Wdr27	A	G	17: 15,111,980 (GRCm39)	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,193,131 (GRCm39)	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,887,920 (GRCm39)	I379N	probably damaging	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
R7346:Mrm3	UTSW	11	76,141,002 (GRCm39)	missense	possibly damaging	0.51
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
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'- GGGACTTACTTCAGCGTTACC -3'
(R):5'- TATCACCACAGCTGCTGGTG -3'

Sequencing Primer
(F):5'- CAGCGTTACCTTTGTAGTCTAGGAAG -3'
(R):5'- TGCTGGTGCTCCTGTCCAG -3'

Posted On

2022-04-18