Mutagenetix > Incidental Mutation

Incidental Mutation 'R7809:Rmnd1'

601025

Institutional Source

Beutler Lab

Gene Symbol

Rmnd1

Ensembl Gene

ENSMUSG00000019763

Gene Name

required for meiotic nuclear division 1 homolog

Synonyms

0610042C05Rik

MMRRC Submission

045864-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R7809 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4353168-4382583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4357848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 387 (Y387C)

Ref Sequence

ENSEMBL: ENSMUSP00000043355 (fasta)

Gene Model

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

AlphaFold

Q8CI78

Predicted Effect

probably damaging
Transcript: ENSMUST00000042251
AA Change: Y387C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: Y387C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128434
AA Change: Y24C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119195
Gene: ENSMUSG00000019763
AA Change: Y24C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot13	G	A	13: 25,004,779 (GRCm39)	T62I	probably damaging	Het
Adam33	C	G	2: 130,893,266 (GRCm39)	R779P	probably benign	Het
Adgrv1	G	A	13: 81,676,760 (GRCm39)	P2024S	possibly damaging	Het
Afm	A	G	5: 90,672,675 (GRCm39)	N170S	probably damaging	Het
Ambn	G	A	5: 88,615,683 (GRCm39)	V371I	probably benign	Het
Apbb1	G	A	7: 105,223,014 (GRCm39)	P199L	probably benign	Het
Axdnd1	A	T	1: 156,220,371 (GRCm39)	C118*	probably null	Het
Carf	G	T	1: 60,183,226 (GRCm39)	V443L	probably damaging	Het
Cfap251	A	G	5: 123,402,894 (GRCm39)	D459G	probably damaging	Het
Ckap5	G	A	2: 91,436,702 (GRCm39)	A1601T	probably benign	Het
Cnot1	A	T	8: 96,478,406 (GRCm39)	I973N	probably damaging	Het
Col11a1	A	G	3: 113,890,835 (GRCm39)	T391A	unknown	Het
Cracr2a	A	T	6: 127,626,925 (GRCm39)	M569L	probably benign	Het
Cspg4	T	C	9: 56,797,474 (GRCm39)	F1313L	probably damaging	Het
Cstdc2	A	G	2: 148,688,910 (GRCm39)	S110P	probably damaging	Het
Cttnbp2	C	A	6: 18,434,289 (GRCm39)	R523L	probably damaging	Het
Cxadr	T	C	16: 78,130,407 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,995,462 (GRCm39)	M962K	probably benign	Het
Dnm1	T	C	2: 32,243,091 (GRCm39)	K44R	probably damaging	Het
Fat3	T	C	9: 15,917,924 (GRCm39)	S1500G	probably damaging	Het
Gad1	T	C	2: 70,427,603 (GRCm39)	F503S	possibly damaging	Het
Garin3	A	G	11: 46,298,631 (GRCm39)	E645G		Het
Gm20730	T	C	6: 43,058,989 (GRCm39)	I15V	probably benign	Het
Gmppb	T	G	9: 107,928,654 (GRCm39)	*361G	probably null	Het
Inpp5f	T	C	7: 128,269,367 (GRCm39)	V239A	probably damaging	Het
Irf4	A	T	13: 30,941,415 (GRCm39)	Y257F	probably benign	Het
Kcnma1	T	C	14: 23,423,324 (GRCm39)	D793G	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Lrriq1	T	C	10: 103,051,678 (GRCm39)	K358R	probably damaging	Het
Mcpt4	T	A	14: 56,298,141 (GRCm39)	I137F	possibly damaging	Het
Muc6	T	A	7: 141,226,638 (GRCm39)	H1358L	probably benign	Het
Mug1	A	T	6: 121,855,944 (GRCm39)	M979L	possibly damaging	Het
Mvb12a	C	A	8: 71,998,306 (GRCm39)	P175T	probably benign	Het
Myh13	A	G	11: 67,241,167 (GRCm39)	E848G	probably benign	Het
Or4c105	A	T	2: 88,647,902 (GRCm39)	H129L	probably damaging	Het
Oxnad1	T	C	14: 31,822,962 (GRCm39)	V231A	probably benign	Het
Pcdhac1	A	G	18: 37,224,009 (GRCm39)	N274S	possibly damaging	Het
Plxnc1	T	A	10: 94,630,302 (GRCm39)	K1532N	probably damaging	Het
Polr3e	A	G	7: 120,523,449 (GRCm39)	D14G	probably damaging	Het
Prex1	A	G	2: 166,415,164 (GRCm39)	F1432S	possibly damaging	Het
Prlhr	A	G	19: 60,456,293 (GRCm39)	L91P	probably damaging	Het
Prom1	C	T	5: 44,178,209 (GRCm39)	V508I	probably benign	Het
Sall3	T	A	18: 81,017,575 (GRCm39)	T118S	probably benign	Het
Sf3b1	A	T	1: 55,034,614 (GRCm39)	D1015E	possibly damaging	Het
Sfmbt2	A	G	2: 10,398,155 (GRCm39)	N12S	probably benign	Het
Sohlh1	A	C	2: 25,735,289 (GRCm39)	S198A	probably benign	Het
Sorbs2	T	C	8: 46,198,465 (GRCm39)	S38P	possibly damaging	Het
Spata21	G	A	4: 140,831,354 (GRCm39)	A434T	probably null	Het
Stard13	T	A	5: 151,113,489 (GRCm39)	Q24L	probably damaging	Het
Syne2	G	T	12: 76,014,230 (GRCm39)	M3140I	probably benign	Het
Tango6	T	C	8: 107,415,926 (GRCm39)		probably null	Het
Tdrd9	G	A	12: 111,999,155 (GRCm39)	G757R	probably damaging	Het
Thada	A	C	17: 84,759,265 (GRCm39)	V198G	possibly damaging	Het
Tmf1	T	C	6: 97,138,420 (GRCm39)	N833D	probably damaging	Het
Trav7-3	T	C	14: 53,681,072 (GRCm39)	M38T	probably benign	Het
Ttc38	A	C	15: 85,722,939 (GRCm39)	Q129P	possibly damaging	Het
Uox	A	T	3: 146,333,613 (GRCm39)	K271*	probably null	Het
Urgcp	A	T	11: 5,673,133 (GRCm39)	D47E	probably benign	Het
Usp17lb	A	G	7: 104,490,420 (GRCm39)	I169T	probably damaging	Het
Wdr75	T	C	1: 45,862,596 (GRCm39)	I805T	probably benign	Het
Zfp131	A	G	13: 120,250,446 (GRCm39)	F59S	probably damaging	Het
Zfp383	G	A	7: 29,609,661 (GRCm39)	A21T	possibly damaging	Het
Zfp810	T	C	9: 22,190,278 (GRCm39)	Y210C	possibly damaging	Het
Zfp871	A	G	17: 32,993,826 (GRCm39)	C450R	probably 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
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
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'- GAGAGCAACTGTCCTGTCTGTC -3'
(R):5'- AGAGTGCTCACATGACACTATG -3'

Sequencing Primer
(F):5'- CCAAAGAGTATTTCTCCAAATGCTG -3'
(R):5'- CACATGACACTATGAAAATATGGGC -3'

Posted On

2019-11-26