Mutagenetix > Incidental Mutations

Incidental Mutation 'R8993:Rmnd1'

684555

Institutional Source

Beutler Lab

Gene Symbol

Rmnd1

Ensembl Gene

ENSMUSG00000019763

Gene Name

required for meiotic nuclear division 1 homolog

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4401915-4432388 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4407918 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 364 (I364L)

Ref Sequence

ENSEMBL: ENSMUSP00000043355 (fasta)

Gene Model

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

AlphaFold

Q8CI78

Predicted Effect

probably benign
Transcript: ENSMUST00000042251
AA Change: I364L

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: I364L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128434
AA Change: I1L

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119195
Gene: ENSMUSG00000019763
AA Change: I1L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,703,781	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,545,267	E155*	probably null	Het
Acaa1a	A	T	9: 119,349,352		probably null	Het
Adcy4	T	C	14: 55,771,378	E864G	probably null	Het
Adcy4	T	C	14: 55,778,699	D387G	probably damaging	Het
Ank1	C	T	8: 23,098,939	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,287,038	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,448,104	Y699F	probably benign	Het
BB014433	C	T	8: 15,042,101	V251M	probably damaging	Het
Bcan	G	A	3: 87,994,222	A391V	probably benign	Het
Bod1l	A	C	5: 41,816,867	V2368G	probably benign	Het
Braf	A	G	6: 39,662,151	V222A	probably damaging	Het
Cd33	G	T	7: 43,533,447		probably benign	Het
Cdkl2	T	A	5: 92,022,151	K324N	probably damaging	Het
Celf6	A	T	9: 59,602,871	T199S	probably damaging	Het
Cmtm4	A	C	8: 104,355,166	D196E	probably benign	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451	P921H	unknown	Het
Crmp1	T	C	5: 37,242,146	M1T	probably null	Het
Dnah7a	A	T	1: 53,504,103	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,574,171	T650K	probably benign	Het
Fam24a	A	G	7: 131,336,540	D53G	probably benign	Het
Foxa2	A	T	2: 148,044,706	M69K	probably benign	Het
Gatad2a	T	A	8: 69,909,935	H601L	probably damaging	Het
Gimap4	A	C	6: 48,690,605	D98A	probably damaging	Het
Gm14295	G	T	2: 176,809,830	R371L	possibly damaging	Het
Gm5039	A	G	12: 88,321,400	F28L	probably benign	Het
Golim4	G	T	3: 75,878,128	A652E	probably benign	Het
Grid1	A	G	14: 35,026,942	I240V	probably benign	Het
Iqsec3	T	A	6: 121,413,313	T400S	unknown	Het
Itk	G	A	11: 46,334,908	R539C	probably damaging	Het
Kdelc1	G	T	1: 44,112,764	L322I	possibly damaging	Het
Kif27	T	A	13: 58,326,098	D695V	possibly damaging	Het
Krt79	T	C	15: 101,931,006		probably benign	Het
Lama2	C	A	10: 27,422,714	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,229,238	E552D	possibly damaging	Het
Mpp3	A	G	11: 102,000,665	I549T	probably benign	Het
Nat1	T	C	8: 67,491,742	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,837	K69*	probably null	Het
Nlrx1	G	T	9: 44,256,941		probably benign	Het
Pde1b	C	A	15: 103,521,425	A115E	probably benign	Het
Pde4dip	A	G	3: 97,766,494	Y369H	probably damaging	Het
Pnpla7	A	G	2: 25,053,419	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 144,272,959	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,450,044	G20D	probably damaging	Het
Slc5a4a	A	T	10: 76,186,535	E568V	probably benign	Het
Slc6a18	T	A	13: 73,668,271	I330F	probably benign	Het
Spesp1	T	C	9: 62,273,270	T119A	possibly damaging	Het
Sypl	G	A	12: 32,975,663	S242N	probably benign	Het
Tbx18	G	A	9: 87,730,717	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,063,926	D263V	probably damaging	Het
Trbv21	T	C	6: 41,202,990	I80T	probably damaging	Het
Ttc3	T	A	16: 94,427,808	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,817,801	D498G	possibly damaging	Het
Ttn	T	C	2: 76,753,370	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,410,341	S388R		Het
Vmn2r118	A	T	17: 55,610,835	L226I	possibly damaging	Het
Wdr46	A	G	17: 33,949,182	H576R	probably benign	Het
Zfp426	A	G	9: 20,475,000	F62L	probably damaging	Het

Other mutations in Rmnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Rmnd1	APN	10	4427392	missense	probably benign
IGL01018:Rmnd1	APN	10	4427290	missense	probably benign	0.43
IGL01112:Rmnd1	APN	10	4410793	splice site	probably null
R0418:Rmnd1	UTSW	10	4427693	critical splice acceptor site	probably null
R2036:Rmnd1	UTSW	10	4407884	missense	probably damaging	1.00
R2312:Rmnd1	UTSW	10	4427466	missense	probably benign
R2319:Rmnd1	UTSW	10	4422099	missense	possibly damaging	0.62
R4191:Rmnd1	UTSW	10	4410809	unclassified	probably benign
R5077:Rmnd1	UTSW	10	4427488	missense	possibly damaging	0.66
R5620:Rmnd1	UTSW	10	4422159	missense	probably damaging	1.00
R5659:Rmnd1	UTSW	10	4427382	missense	probably benign	0.04
R6291:Rmnd1	UTSW	10	4422135	missense	probably damaging	1.00
R7089:Rmnd1	UTSW	10	4403873	missense	probably damaging	1.00
R7214:Rmnd1	UTSW	10	4410753	missense	probably benign
R7260:Rmnd1	UTSW	10	4414803	splice site	probably null
R7540:Rmnd1	UTSW	10	4403989	missense	probably damaging	1.00
R7599:Rmnd1	UTSW	10	4413404	missense	probably benign	0.11
R7719:Rmnd1	UTSW	10	4427496	missense	probably benign
R7777:Rmnd1	UTSW	10	4411713	missense	probably damaging	1.00
R7809:Rmnd1	UTSW	10	4407848	missense	probably damaging	1.00
R8397:Rmnd1	UTSW	10	4427278	nonsense	probably null
R9058:Rmnd1	UTSW	10	4413398	missense	probably benign	0.05
X0026:Rmnd1	UTSW	10	4427676	start codon destroyed	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- AGAGCAACTGTCCTGTCTGTC -3'
(R):5'- TCTTGTGGTTGCGTAACGAC -3'

Sequencing Primer
(F):5'- GAAACCCTGCCCAAGTGTAG -3'
(R):5'- GAAAAGTGAGGCTTATTGTGTTACC -3'

Posted On

2021-10-11