Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01018:Rmnd1'

53826

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rmnd1

Ensembl Gene

ENSMUSG00000019763

Gene Name

required for meiotic nuclear division 1 homolog

Synonyms

0610042C05Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

IGL01018

Quality Score

Status

Chromosome

Chromosomal Location

4353168-4382583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4377290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 130 (S130T)

Ref Sequence

ENSEMBL: ENSMUSP00000043355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042251] [ENSMUST00000126102] [ENSMUST00000131853] [ENSMUST00000155172]

AlphaFold

Q8CI78

Predicted Effect

probably benign
Transcript: ENSMUST00000042251
AA Change: S130T

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: S130T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126102

Predicted Effect

probably benign
Transcript: ENSMUST00000131853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148566

Predicted Effect

probably benign
Transcript: ENSMUST00000155172
AA Change: S130T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156940

Coding Region Coverage

Validation Efficiency

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
5530400C23Rik	G	T	6: 133,271,460 (GRCm39)	R168I	probably benign	Het
5530400C23Rik	A	T	6: 133,271,461 (GRCm39)	R168S	probably benign	Het
Armt1	T	A	10: 4,400,732 (GRCm39)	S160T	probably benign	Het
Armt1	C	T	10: 4,404,237 (GRCm39)		probably benign	Het
Ccdc170	T	C	10: 4,462,788 (GRCm39)	W35R	probably benign	Het
Ccdc170	T	C	10: 4,464,114 (GRCm39)	V31A	probably benign	Het
Ccdc170	G	T	10: 4,464,155 (GRCm39)	A99S	probably benign	Het
Glp2r	C	A	11: 67,600,470 (GRCm39)	V460F	probably benign	Het
Gm21411	C	T	4: 146,977,067 (GRCm39)	S69N	possibly damaging	Het
Gm21411	T	C	4: 146,977,034 (GRCm39)	Q80R	probably benign	Het
Gm21738	G	A	14: 19,418,856 (GRCm38)	P24L	probably benign	Het
H2-M10.6	C	T	17: 37,123,112 (GRCm39)	A15V	probably benign	Het
H60c	T	C	10: 3,209,766 (GRCm39)	M174V	probably benign	Het
H60c	A	C	10: 3,210,343 (GRCm39)	F69V	probably benign	Het
Ipcef1	G	A	10: 6,840,551 (GRCm39)	A382V	probably benign	Het
Ipcef1	C	T	10: 6,869,968 (GRCm39)	R144Q	probably damaging	Het
Mapk8ip3	T	G	17: 25,118,693 (GRCm39)		probably benign	Het
Mthfd1l	T	C	10: 3,928,708 (GRCm39)	V100A	probably benign	Het
Mthfd1l	T	C	10: 3,957,800 (GRCm39)	V279A	probably benign	Het
Mthfd1l	T	C	10: 3,982,345 (GRCm39)		probably benign	Het
Mtrf1l	A	G	10: 5,764,180 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,957,613 (GRCm39)	E1450G	probably damaging	Het
Obscn	C	T	11: 59,018,895 (GRCm39)	V973M	probably damaging	Het
Oprm1	T	C	10: 6,987,170 (GRCm39)		probably benign	Het
Or6p1	G	A	1: 174,258,908 (GRCm39)	V305I	probably benign	Het
Pou5f2	A	G	13: 78,174,057 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,252,113 (GRCm39)	H891Y	probably benign	Het
Ralgapa2	T	G	2: 146,252,112 (GRCm39)	H806P	probably benign	Het
Spata31e2	T	C	1: 26,721,991 (GRCm39)	E1063G	probably damaging	Het
Speer4a3	G	T	5: 26,155,721 (GRCm39)	H208N	probably benign	Het
Trappc12	A	C	12: 28,741,853 (GRCm39)		probably benign	Het
Ulbp3	G	A	10: 3,075,031 (GRCm39)		noncoding transcript	Het
Ulbp3	C	T	10: 3,075,193 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,231 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,209 (GRCm39)		noncoding transcript	Het
Vip	A	G	10: 5,592,480 (GRCm39)	D40G	probably benign	Het
Vmn2r125	A	G	4: 156,703,140 (GRCm39)	N173D	probably damaging	Het
Vmn2r125	C	A	4: 156,703,194 (GRCm39)	Q191K	probably benign	Het
Vmn2r125	A	C	4: 156,703,195 (GRCm39)	Q191P	probably benign	Het
Vmn2r125	A	T	4: 156,703,332 (GRCm39)	T237S	probably benign	Het
Vmn2r125	T	C	4: 156,702,907 (GRCm39)		probably benign	Het
Vmn2r125	T	A	4: 156,703,521 (GRCm39)	L300M	probably benign	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r129	C	A	4: 156,690,730 (GRCm39)		noncoding transcript	Het
Vmn2r129	A	T	4: 156,690,441 (GRCm39)		noncoding transcript	Het
Vmn2r129	G	A	4: 156,686,900 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,687,885 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,686,558 (GRCm39)		noncoding transcript	Het
Vmn2r40	G	A	7: 8,911,175 (GRCm39)	S706F	probably damaging	Het
Zfp14	T	A	7: 29,737,526 (GRCm39)	R486S	probably damaging	Het

Other mutations in Rmnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4191:Rmnd1	UTSW	10	4,360,809 (GRCm39)	unclassified	probably benign
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

Posted On

2013-06-28