Mutagenetix > Incidental Mutation

Incidental Mutation 'R5591:Mrm3'

437535

Institutional Source

Beutler Lab

Gene Symbol

Mrm3

Ensembl Gene

ENSMUSG00000038046

Gene Name

mitochondrial rRNA methyltransferase 3

Synonyms

4833420N02Rik, Rnmtl1, HC90

MMRRC Submission

043269-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76134562-76141451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76140907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 305 (R305H)

Ref Sequence

ENSEMBL: ENSMUSP00000042882 (fasta)

Gene Model

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

AlphaFold

Q5ND52

Predicted Effect

probably benign
Transcript: ENSMUST00000040577
AA Change: R305H

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

SMART Domains

Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046
AA Change: R305H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155526

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	T	C	7: 44,794,076 (GRCm39)	E13G	probably null	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Bub1	A	T	2: 127,661,263 (GRCm39)	M276K	probably benign	Het
Casp14	A	T	10: 78,550,179 (GRCm39)	D156E	unknown	Het
Ccdc82	T	A	9: 13,272,822 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,289,521 (GRCm39)	N436S	probably benign	Het
Cyp2j12	A	G	4: 96,029,359 (GRCm39)		probably benign	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Daxx	T	C	17: 34,130,662 (GRCm39)	S226P	probably damaging	Het
Gm3676	T	C	14: 41,365,181 (GRCm39)	Y158C	probably benign	Het
Gnai1	A	T	5: 18,476,844 (GRCm39)	I285K	probably benign	Het
Gpr179	C	T	11: 97,236,581 (GRCm39)	V417I	probably benign	Het
Helz2	C	T	2: 180,882,051 (GRCm39)	M247I	probably damaging	Het
Hmcn2	C	T	2: 31,234,059 (GRCm39)	L275F	probably damaging	Het
Ifi27l2b	A	G	12: 103,417,566 (GRCm39)	V207A	probably damaging	Het
Isg20l2	C	T	3: 87,837,731 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,670,934 (GRCm39)	D221G	probably damaging	Het
Lca5l	T	C	16: 95,979,929 (GRCm39)	Y67C	probably damaging	Het
Loxl3	T	A	6: 83,025,018 (GRCm39)	C249S	probably damaging	Het
Luc7l3	T	C	11: 94,184,060 (GRCm39)		probably benign	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mbd5	A	C	2: 49,164,681 (GRCm39)	Q958H	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtrex	A	T	13: 113,063,890 (GRCm39)	M1K	probably null	Het
Or10ak7	A	T	4: 118,791,658 (GRCm39)	I127K	probably damaging	Het
Or1j18	A	T	2: 36,625,244 (GRCm39)	I304F	probably benign	Het
Or2aj5	T	A	16: 19,424,608 (GRCm39)	Q270L	probably damaging	Het
Or2ak7	A	G	11: 58,574,951 (GRCm39)	N84S	probably benign	Het
Or2d3c	A	T	7: 106,526,489 (GRCm39)	M59K	probably damaging	Het
Or4c126	A	G	2: 89,823,751 (GRCm39)	T5A	possibly damaging	Het
Or51q1	G	T	7: 103,629,320 (GRCm39)	R307L	probably benign	Het
P3h3	C	T	6: 124,831,658 (GRCm39)		probably benign	Het
Pals2	A	G	6: 50,157,159 (GRCm39)	S276G	probably benign	Het
Plekhg3	C	T	12: 76,607,066 (GRCm39)	S42L	possibly damaging	Het
Polq	A	G	16: 36,832,247 (GRCm39)		probably benign	Het
Pramel16	T	C	4: 143,675,377 (GRCm39)	Y483C	probably damaging	Het
Pramel28	G	T	4: 143,691,530 (GRCm39)	L398I	probably damaging	Het
Raph1	G	A	1: 60,540,905 (GRCm39)		probably benign	Het
Rnf144b	G	A	13: 47,396,430 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,609,900 (GRCm39)	S4309P	probably benign	Het
Sash1	A	T	10: 8,601,482 (GRCm39)	S1158T	probably benign	Het
Sim2	T	C	16: 93,898,048 (GRCm39)	V94A	probably damaging	Het
Sirt5	A	G	13: 43,525,317 (GRCm39)	D42G	possibly damaging	Het
Smarcal1	A	T	1: 72,630,412 (GRCm39)	K155N	probably damaging	Het
Spam1	A	G	6: 24,800,545 (GRCm39)	Y428C	probably damaging	Het
Spef2	T	C	15: 9,583,922 (GRCm39)	N1655S	probably benign	Het
Sympk	A	G	7: 18,787,964 (GRCm39)	E1160G	probably damaging	Het
Tmem192	A	G	8: 65,418,254 (GRCm39)	Y168C	possibly damaging	Het
Ttn	T	A	2: 76,540,012 (GRCm39)	M25998L	probably benign	Het
Usp48	A	G	4: 137,379,963 (GRCm39)		probably benign	Het
Vamp4	A	G	1: 162,415,811 (GRCm39)	I71V	possibly damaging	Het
Washc5	C	A	15: 59,241,012 (GRCm39)	D108Y	probably damaging	Het
Wdfy4	T	A	14: 32,829,087 (GRCm39)	H1043L	probably benign	Het
Zcchc14	C	T	8: 122,332,187 (GRCm39)		probably benign	Het
Zfp407	A	G	18: 84,579,262 (GRCm39)	F617S	probably damaging	Het
Zfp869	T	A	8: 70,160,342 (GRCm39)	N77I	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
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
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'- CGTTACCTTTGTAGTCTAGGAAGATTG -3'
(R):5'- ATTCCAGGCTCACTCCATGC -3'

Sequencing Primer
(F):5'- AGTCTAGGAAGATTGGTTAAGTCTC -3'
(R):5'- AGGCTCACTCCATGCGTCTC -3'

Posted On

2016-10-26