Mutagenetix > Incidental Mutations

Incidental Mutation 'R4402:Mrm1'

326688

Institutional Source

Beutler Lab

Gene Symbol

Mrm1

Ensembl Gene

ENSMUSG00000018405

Gene Name

mitochondrial rRNA methyltransferase 1

Synonyms

MMRRC Submission

042003-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R4402 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84813061-84819515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84819089 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 95 (I95T)

Ref Sequence

ENSEMBL: ENSMUSP00000018549 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000018549
AA Change: I95T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018549
Gene: ENSMUSG00000018405
AA Change: I95T

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

0.3037

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,194	H167Q	probably benign	Het
Adamts20	T	C	15: 94,379,946	T212A	probably benign	Het
Ap3b1	C	A	13: 94,418,099	L248I	probably damaging	Het
Atl1	T	G	12: 69,959,199	D426E	probably benign	Het
Cage1	T	A	13: 38,023,102	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484		probably null	Het
Canx	T	C	11: 50,304,438	T268A	probably benign	Het
Chd7	A	T	4: 8,866,353	M842L	possibly damaging	Het
Clca4a	T	C	3: 144,952,848	T787A	probably benign	Het
Clstn3	T	C	6: 124,456,980	Y407C	probably damaging	Het
Copa	C	A	1: 172,102,224	T286N	probably damaging	Het
Cyb5a	G	A	18: 84,871,593	R49Q	possibly damaging	Het
Def6	A	G	17: 28,219,976	K219E	probably damaging	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Eif5	A	T	12: 111,541,749	K161N	probably benign	Het
Fras1	C	A	5: 96,642,620	T951K	probably damaging	Het
Gen1	A	T	12: 11,242,362	N475K	possibly damaging	Het
Gm14569	T	C	X: 36,433,493	Y521C	probably benign	Het
Gm6124	T	A	7: 39,221,105		noncoding transcript	Het
Gpt2	A	T	8: 85,525,559	D501V	probably benign	Het
Gstm2	T	C	3: 107,986,054	K31R	probably benign	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Itga1	T	A	13: 115,001,566	M428L	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcnn4	T	C	7: 24,377,442	W139R	probably benign	Het
Kdm7a	T	A	6: 39,166,668	R380W	probably null	Het
Khdrbs1	T	G	4: 129,742,096	D22A	possibly damaging	Het
Liph	A	T	16: 21,976,250	I204N	probably damaging	Het
Loxhd1	A	G	18: 77,441,760	E2033G	possibly damaging	Het
M6pr	C	T	6: 122,315,023		probably benign	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Mug1	C	A	6: 121,879,352	F1030L	probably damaging	Het
Naca	C	T	10: 128,043,472		probably benign	Het
Nob1	A	T	8: 107,418,488		probably benign	Het
Nutm1	A	C	2: 112,249,809	I587R	probably damaging	Het
Olfr385	A	G	11: 73,589,255	V161A	probably benign	Het
Pcdhb2	A	G	18: 37,295,402	K143E	probably benign	Het
Pcnt	T	C	10: 76,392,393	Q1646R	probably benign	Het
Piwil2	A	T	14: 70,408,916	D390E	probably benign	Het
Pkhd1	A	G	1: 20,239,411	L2771P	probably damaging	Het
Pla2g1b	T	A	5: 115,470,888	Y47*	probably null	Het
Plekhn1	T	C	4: 156,225,356	T135A	probably damaging	Het
Pola1	T	C	X: 93,561,423	Y968C	probably damaging	Het
Ppp1r26	C	A	2: 28,451,606	T416K	probably benign	Het
Psmd1	A	G	1: 86,075,951	I153V	possibly damaging	Het
Rcan2	A	G	17: 43,953,470	D7G	probably benign	Het
Rexo5	T	C	7: 119,834,376	I326T	possibly damaging	Het
Rps6kc1	A	G	1: 190,798,605		probably benign	Het
Shc1	T	C	3: 89,426,678	S273P	probably benign	Het
Slc9b2	T	C	3: 135,336,544	V528A	probably benign	Het
Tas2r118	T	C	6: 23,969,294	K256R	probably benign	Het
Tma16	C	T	8: 66,484,171		probably null	Het
Tnfaip2	T	C	12: 111,449,851	F516L	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Wdr35	A	G	12: 8,989,981	D362G	probably damaging	Het
Wwp2	T	C	8: 107,457,978	V106A	probably benign	Het
Zfp40	T	A	17: 23,176,719	H230L	possibly damaging	Het
Zkscan17	T	A	11: 59,503,022	M1L	possibly damaging	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
R4413:Mrm1	UTSW	11	84819228	missense	possibly damaging	0.46
R5266:Mrm1	UTSW	11	84819260	missense	possibly damaging	0.58
R5930:Mrm1	UTSW	11	84819192	missense	probably damaging	1.00
R7833: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'- TGGTGATGACTCTGTCTACGC -3'
(R):5'- TTGCTTCTGGATGACCTGGC -3'

Sequencing Primer
(F):5'- ACTCTGTCTACGCCGAGGAAG -3'
(R):5'- GGCTGGAACGTCTATTTG -3'

Posted On

2015-07-07