Mutagenetix > Incidental Mutation

Incidental Mutation 'R4191:Rmnd1'

318322

Institutional Source

Beutler Lab

Gene Symbol

Rmnd1

Ensembl Gene

ENSMUSG00000019763

Gene Name

required for meiotic nuclear division 1 homolog

Synonyms

0610042C05Rik

MMRRC Submission

041022-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R4191 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

4353168-4382583 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 4360809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042251] [ENSMUST00000128434]

AlphaFold

Q8CI78

Predicted Effect

probably benign
Transcript: ENSMUST00000042251

SMART Domains

Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763

Domain	Start	End	E-Value	Type
Pfam:DUF155	227	404	3.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128434

SMART Domains

Protein: ENSMUSP00000119195
Gene: ENSMUSG00000019763

Domain	Start	End	E-Value	Type
Pfam:DUF155	1	42	8.4e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140660

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

95% (57/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,207,728 (GRCm39)	T22A	probably damaging	Het
Ache	A	T	5: 137,289,334 (GRCm39)	I347F	probably damaging	Het
Adgrl1	C	G	8: 84,665,569 (GRCm39)	R1464G	probably benign	Het
Cdh11	T	C	8: 103,377,380 (GRCm39)	D422G	probably damaging	Het
Cdx1	C	T	18: 61,153,510 (GRCm39)	S176N	possibly damaging	Het
Cimip3	C	T	17: 47,747,562 (GRCm39)	R61H	probably damaging	Het
Csmd3	T	C	15: 47,710,667 (GRCm39)	D1536G	probably damaging	Het
Cyct	G	T	2: 76,184,535 (GRCm39)	P72Q	probably damaging	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Disp1	G	T	1: 182,870,737 (GRCm39)	A561E	probably damaging	Het
Donson	C	A	16: 91,485,480 (GRCm39)	A41S	possibly damaging	Het
Gldc	T	C	19: 30,123,058 (GRCm39)	E279G	probably damaging	Het
Gpr160	A	T	3: 30,950,863 (GRCm39)	I312F	possibly damaging	Het
H2-Eb2	G	A	17: 34,563,529 (GRCm39)		probably benign	Het
Igdcc4	A	G	9: 65,031,433 (GRCm39)	Q457R	probably benign	Het
Irf2bp2	T	C	8: 127,320,084 (GRCm39)	D31G	probably damaging	Het
Klrb1	T	A	6: 128,690,597 (GRCm39)	K42*	probably null	Het
Lrrfip1	A	T	1: 91,038,121 (GRCm39)	E446D	probably benign	Het
Macf1	A	G	4: 123,366,835 (GRCm39)	F1077S	possibly damaging	Het
Maml3	A	G	3: 51,597,390 (GRCm39)	V1098A	probably benign	Het
Mrgpra4	T	C	7: 47,630,867 (GRCm39)	S245G	probably benign	Het
Mybbp1a	A	G	11: 72,342,113 (GRCm39)	E1283G	probably damaging	Het
Myh2	A	G	11: 67,068,226 (GRCm39)	S285G	possibly damaging	Het
Myh7b	A	G	2: 155,475,319 (GRCm39)	D1876G	probably benign	Het
Nr4a2	T	C	2: 57,002,391 (GRCm39)	S21G	probably damaging	Het
Or10d1c	T	A	9: 38,894,313 (GRCm39)	Q9L	probably benign	Het
Or2y14	T	A	11: 49,404,639 (GRCm39)	M58K	probably damaging	Het
Or7g25	A	G	9: 19,160,383 (GRCm39)	V104A	probably benign	Het
Or8c11	T	A	9: 38,289,648 (GRCm39)	M157K	probably damaging	Het
Or8k18	C	A	2: 86,085,666 (GRCm39)	V124L	probably benign	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Pex10	T	C	4: 155,152,362 (GRCm39)		probably null	Het
Pgf	T	C	12: 85,218,561 (GRCm39)	D63G	probably benign	Het
Piwil4	A	G	9: 14,626,296 (GRCm39)	S465P	probably damaging	Het
Plcb1	A	C	2: 135,187,010 (GRCm39)	H759P	probably damaging	Het
Pmfbp1	A	T	8: 110,254,260 (GRCm39)	M432L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Ro60	T	C	1: 143,646,524 (GRCm39)	I74V	probably benign	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Svep1	C	T	4: 58,046,601 (GRCm39)	C3510Y	possibly damaging	Het
Tanc1	A	G	2: 59,669,357 (GRCm39)	I1274V	probably damaging	Het
Tep1	T	C	14: 51,074,263 (GRCm39)	E1874G	probably damaging	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tlk1	G	A	2: 70,555,891 (GRCm39)	R423C	probably damaging	Het
Trp53rkb	T	C	2: 166,637,395 (GRCm39)	I117T	probably damaging	Het
Ttll9	A	G	2: 152,844,927 (GRCm39)	T432A	probably benign	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Zfp112	A	G	7: 23,825,568 (GRCm39)	D512G	probably benign	Het
Zfyve19	A	G	2: 119,041,312 (GRCm39)	K76R	possibly damaging	Het

Other mutations in Rmnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Rmnd1	APN	10	4,377,290 (GRCm39)	missense	probably benign	0.43
IGL01018:Rmnd1	APN	10	4,377,392 (GRCm39)	missense	probably benign
IGL01112:Rmnd1	APN	10	4,360,793 (GRCm39)	splice site	probably null
R0418:Rmnd1	UTSW	10	4,377,693 (GRCm39)	critical splice acceptor site	probably null
R2036:Rmnd1	UTSW	10	4,357,884 (GRCm39)	missense	probably damaging	1.00
R2312:Rmnd1	UTSW	10	4,377,466 (GRCm39)	missense	probably benign
R2319:Rmnd1	UTSW	10	4,372,099 (GRCm39)	missense	possibly damaging	0.62
R5077:Rmnd1	UTSW	10	4,377,488 (GRCm39)	missense	possibly damaging	0.66
R5620:Rmnd1	UTSW	10	4,372,159 (GRCm39)	missense	probably damaging	1.00
R5659:Rmnd1	UTSW	10	4,377,382 (GRCm39)	missense	probably benign	0.04
R6291:Rmnd1	UTSW	10	4,372,135 (GRCm39)	missense	probably damaging	1.00
R7089:Rmnd1	UTSW	10	4,353,873 (GRCm39)	missense	probably damaging	1.00
R7214:Rmnd1	UTSW	10	4,360,753 (GRCm39)	missense	probably benign
R7260:Rmnd1	UTSW	10	4,364,803 (GRCm39)	splice site	probably null
R7540:Rmnd1	UTSW	10	4,353,989 (GRCm39)	missense	probably damaging	1.00
R7599:Rmnd1	UTSW	10	4,363,404 (GRCm39)	missense	probably benign	0.11
R7719:Rmnd1	UTSW	10	4,377,496 (GRCm39)	missense	probably benign
R7777:Rmnd1	UTSW	10	4,361,713 (GRCm39)	missense	probably damaging	1.00
R7809:Rmnd1	UTSW	10	4,357,848 (GRCm39)	missense	probably damaging	1.00
R8397:Rmnd1	UTSW	10	4,377,278 (GRCm39)	nonsense	probably null
R8993:Rmnd1	UTSW	10	4,357,918 (GRCm39)	missense	probably benign	0.40
R9058:Rmnd1	UTSW	10	4,363,398 (GRCm39)	missense	probably benign	0.05
X0026:Rmnd1	UTSW	10	4,377,676 (GRCm39)	start codon destroyed	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- ACAGTCCTAACAGAGCCTGG -3'
(R):5'- CCACTTTACAGGTAAGATAAGGAGC -3'

Sequencing Primer
(F):5'- AGCCTGGCTGCTCCTCATG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2015-06-10