Mutagenetix > Incidental Mutations

Incidental Mutation 'R5266:Mrm1'

401715

Institutional Source

Beutler Lab

Gene Symbol

Mrm1

Ensembl Gene

ENSMUSG00000018405

Gene Name

mitochondrial rRNA methyltransferase 1

Synonyms

MMRRC Submission

042858-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R5266 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

84813061-84819515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84819260 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 38 (L38Q)

Ref Sequence

ENSEMBL: ENSMUSP00000018549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018549] [ENSMUST00000047560] [ENSMUST00000151496]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018549
AA Change: L38Q

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018549
Gene: ENSMUSG00000018405
AA Change: L38Q

Domain	Start	End	E-Value	Type
SpoU_sub_bind	49	127	3.31e-11	SMART
Pfam:SpoU_methylase	143	299	3.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047560

SMART Domains

Protein: ENSMUSP00000043467
Gene: ENSMUSG00000034449

Domain	Start	End	E-Value	Type
Pfam:adh_short	12	214	1.4e-46	PFAM
Pfam:KR	13	154	1.7e-11	PFAM
Pfam:Epimerase	14	251	4.8e-7	PFAM
Pfam:adh_short_C2	18	245	1.8e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144104

Predicted Effect

probably benign
Transcript: ENSMUST00000151496

SMART Domains

Protein: ENSMUSP00000122267
Gene: ENSMUSG00000034449

Domain	Start	End	E-Value	Type
Pfam:adh_short	12	49	6.3e-8	PFAM

Meta Mutation Damage Score

0.1468

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,458,384	N457S	probably damaging	Het
Asic4	G	A	1: 75,450,923	G31E	probably benign	Het
Atp2a3	A	G	11: 72,975,397	D281G	probably damaging	Het
Azin1	T	C	15: 38,491,551	D387G	probably benign	Het
Bdp1	T	C	13: 100,067,535	M660V	probably benign	Het
Catsperg2	G	A	7: 29,717,066	T307M	probably damaging	Het
Cfap54	T	G	10: 92,815,902	K3095N	probably benign	Het
Chl1	A	G	6: 103,700,543	N706S	probably damaging	Het
Crym	A	G	7: 120,199,294	V113A	probably benign	Het
Cux1	A	G	5: 136,312,694	S607P	probably damaging	Het
Cyp3a44	T	C	5: 145,794,397	N198D	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Elac1	A	G	18: 73,742,669	V97A	probably benign	Het
Erbb3	G	A	10: 128,569,636	T1251M	probably damaging	Het
Fam198b	T	A	3: 79,936,603	N12K	probably damaging	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Hydin	A	G	8: 110,334,784	H316R	possibly damaging	Het
Ikzf3	A	T	11: 98,490,580	M58K	probably benign	Het
Lyst	T	C	13: 13,660,970	Y1746H	probably damaging	Het
Map3k11	T	A	19: 5,700,594	N613K	probably benign	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Myo7b	A	G	18: 31,998,734	F470L	probably damaging	Het
Ndst2	G	A	14: 20,724,487	R834W	probably damaging	Het
Olfr1173	T	C	2: 88,274,221	Y276C	possibly damaging	Het
Olfr651	A	T	7: 104,553,819	Q300L	probably benign	Het
Opa1	T	A	16: 29,618,130	I637N	probably benign	Het
Padi4	A	G	4: 140,746,131	V665A	possibly damaging	Het
Pcdh1	A	G	18: 38,192,199	Y897H	probably damaging	Het
Pkp3	A	G	7: 141,083,277	D345G	probably damaging	Het
Pla2g4a	T	C	1: 149,865,167	M366V	possibly damaging	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Pon3	T	C	6: 5,240,860	D34G	possibly damaging	Het
Ppargc1b	A	T	18: 61,315,805	S133T	probably damaging	Het
Ppp4r3b	T	C	11: 29,173,309	S2P	possibly damaging	Het
Rbm20	A	G	19: 53,813,387	T109A	probably damaging	Het
Rexo5	C	A	7: 119,844,437	H690Q	probably benign	Het
Scube2	C	T	7: 109,809,230	G670D	probably damaging	Het
Sipa1l2	T	C	8: 125,492,126	I157M	probably damaging	Het
Slbp	A	T	5: 33,643,866	I167N	probably damaging	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Stk36	T	C	1: 74,611,158	V283A	probably benign	Het
Tead1	A	G	7: 112,759,466		probably benign	Het
Tecpr2	G	C	12: 110,915,402	W135S	probably damaging	Het
Tha1	A	C	11: 117,869,676	S241A	probably damaging	Het
Ttc39a	A	T	4: 109,422,504	I112F	probably benign	Het
Vmn1r128	A	T	7: 21,349,403	T11S	probably benign	Het
Vnn1	G	A	10: 23,903,405	C404Y	probably damaging	Het
Wdr41	T	C	13: 94,995,251	F57L	probably damaging	Het
Zfp975	T	G	7: 42,662,230	T320P	probably damaging	Het
Zfp985	A	T	4: 147,582,832		probably null	Het
Zfpm2	T	C	15: 41,099,469	S176P	probably benign	Het

Other mutations in Mrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0226:Mrm1	UTSW	11	84819170	missense	possibly damaging	0.73
R0257:Mrm1	UTSW	11	84814823	splice site	probably benign
R0381:Mrm1	UTSW	11	84818683	missense	possibly damaging	0.91
R0563:Mrm1	UTSW	11	84814713	missense	probably damaging	1.00
R0715:Mrm1	UTSW	11	84814813	splice site	probably benign
R1710:Mrm1	UTSW	11	84818692	missense	probably damaging	1.00
R4402:Mrm1	UTSW	11	84819089	missense	probably damaging	1.00
R4413:Mrm1	UTSW	11	84819228	missense	possibly damaging	0.46
R5930:Mrm1	UTSW	11	84819192	missense	probably damaging	1.00
R7833:Mrm1	UTSW	11	84818643	missense	probably damaging	1.00
R7916:Mrm1	UTSW	11	84818643	missense	probably damaging	1.00
X0017:Mrm1	UTSW	11	84814923	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CATCCAGTTTCTGACGCCTG -3'
(R):5'- AAGGTTAGCTCAGCACCAG -3'

Sequencing Primer
(F):5'- GCCTCAAGACAGGGATGC -3'
(R):5'- TGCGACTCACTCCTGTAGG -3'

Posted On

2016-07-06