Mutagenetix > Incidental Mutation

Incidental Mutation 'R9504:Mrm1'

717737

Institutional Source

Beutler Lab

Gene Symbol

Mrm1

Ensembl Gene

ENSMUSG00000018405

Gene Name

mitochondrial rRNA methyltransferase 1

Synonyms

A530065E19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R9504 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

84703887-84710341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84710132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 23 (R23W)

Ref Sequence

ENSEMBL: ENSMUSP00000018549 (fasta)

Gene Model

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

AlphaFold

Q99J25

Predicted Effect

probably damaging
Transcript: ENSMUST00000018549
AA Change: R23W

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

SMART Domains

Protein: ENSMUSP00000018549
Gene: ENSMUSG00000018405
AA Change: R23W

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1b1	T	C	4: 45,802,905 (GRCm39)	Y148H	probably damaging	Het
Ankib1	A	G	5: 3,763,235 (GRCm39)	V498A	probably benign	Het
Atp6v0c	A	G	17: 24,383,493 (GRCm39)	V118A	possibly damaging	Het
Bcan	G	A	3: 87,900,748 (GRCm39)	P495L	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccdc178	T	C	18: 22,238,708 (GRCm39)	E303G	possibly damaging	Het
Ccdc47	T	C	11: 106,101,155 (GRCm39)	N169S	probably benign	Het
Cldn23	A	T	8: 36,293,470 (GRCm39)	V6E	probably damaging	Het
Dip2a	T	C	10: 76,132,189 (GRCm39)	T560A	probably damaging	Het
Ephb3	A	G	16: 21,036,830 (GRCm39)	S352G	possibly damaging	Het
Far2	C	A	6: 148,059,453 (GRCm39)	A256E	probably damaging	Het
Gga1	C	T	15: 78,767,528 (GRCm39)	R89C	probably damaging	Het
Hbb-bh2	A	G	7: 103,489,339 (GRCm39)	S71P	probably damaging	Het
Lama1	T	A	17: 68,128,661 (GRCm39)	V3006D		Het
Lypd9	A	G	11: 58,337,215 (GRCm39)	V86A	probably benign	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Or1p1b	C	T	11: 74,131,094 (GRCm39)	R235C	probably benign	Het
Or4c35	G	T	2: 89,808,497 (GRCm39)	C125F	probably damaging	Het
Or8b4	A	G	9: 37,830,163 (GRCm39)	D70G	probably damaging	Het
Pkd1l1	A	G	11: 8,815,631 (GRCm39)	W1877R		Het
Psmd2	C	T	16: 20,478,160 (GRCm39)	A515V	probably benign	Het
Samd9l	A	G	6: 3,372,621 (GRCm39)	Y1547H	probably benign	Het
Sgsh	T	C	11: 119,237,375 (GRCm39)	N413S	probably benign	Het
Slmap	G	A	14: 26,136,133 (GRCm39)	P819L	probably damaging	Het
Steap4	A	G	5: 8,030,538 (GRCm39)	N465D	probably benign	Het
Sult3a2	T	C	10: 33,642,436 (GRCm39)	N289S	probably benign	Het
Tbx2	T	A	11: 85,724,038 (GRCm39)	S36T	possibly damaging	Het
Tcstv1a	G	A	13: 120,355,267 (GRCm39)	Q122*	probably null	Het
Tnk2	T	C	16: 32,498,961 (GRCm39)	V758A	possibly damaging	Het
Trrap	C	T	5: 144,742,904 (GRCm39)	T1425M	probably damaging	Het
Ttc9b	A	G	7: 27,354,394 (GRCm39)	K160R	probably damaging	Het
Vinac1	C	T	2: 128,881,189 (GRCm39)	A246T		Het
Zfp959	T	A	17: 56,204,793 (GRCm39)	Y277N	probably benign	Het

Other mutations in Mrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0226:Mrm1	UTSW	11	84,709,996 (GRCm39)	missense	possibly damaging	0.73
R0257:Mrm1	UTSW	11	84,705,649 (GRCm39)	splice site	probably benign
R0381:Mrm1	UTSW	11	84,709,509 (GRCm39)	missense	possibly damaging	0.91
R0563:Mrm1	UTSW	11	84,705,539 (GRCm39)	missense	probably damaging	1.00
R0715:Mrm1	UTSW	11	84,705,639 (GRCm39)	splice site	probably benign
R1710:Mrm1	UTSW	11	84,709,518 (GRCm39)	missense	probably damaging	1.00
R4402:Mrm1	UTSW	11	84,709,915 (GRCm39)	missense	probably damaging	1.00
R4413:Mrm1	UTSW	11	84,710,054 (GRCm39)	missense	possibly damaging	0.46
R5266:Mrm1	UTSW	11	84,710,086 (GRCm39)	missense	possibly damaging	0.58
R5930:Mrm1	UTSW	11	84,710,018 (GRCm39)	missense	probably damaging	1.00
R7833:Mrm1	UTSW	11	84,709,469 (GRCm39)	missense	probably damaging	1.00
R9487:Mrm1	UTSW	11	84,705,531 (GRCm39)	missense	probably damaging	1.00
R9680:Mrm1	UTSW	11	84,710,144 (GRCm39)	missense	possibly damaging	0.92
X0017:Mrm1	UTSW	11	84,705,749 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AGGCATCCAGTTTCTGACGC -3'
(R):5'- TTAGCTCAGCACCAGCACAG -3'

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

Posted On

2022-07-18