Mutagenetix > Incidental Mutation

Incidental Mutation 'R7719:Rmnd1'

595128

Institutional Source

Beutler Lab

Gene Symbol

Rmnd1

Ensembl Gene

ENSMUSG00000019763

Gene Name

required for meiotic nuclear division 1 homolog

Synonyms

0610042C05Rik

MMRRC Submission

045776-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R7719 (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 4377496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 61 (D61G)

Ref Sequence

ENSEMBL: ENSMUSP00000043355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042251] [ENSMUST00000095893] [ENSMUST00000126102] [ENSMUST00000131853] [ENSMUST00000155172]

AlphaFold

Q8CI78

Predicted Effect

probably benign
Transcript: ENSMUST00000042251
AA Change: D61G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: D61G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095893

SMART Domains

Protein: ENSMUSP00000093581
Gene: ENSMUSG00000061759

Domain	Start	End	E-Value	Type
Pfam:DUF89	20	417	1.3e-125	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126102
AA Change: D61G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000131853

Predicted Effect

probably benign
Transcript: ENSMUST00000155172
AA Change: D61G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

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

Validation Efficiency

99% (67/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	T	A	1: 155,562,758 (GRCm39)	L253H	probably damaging	Het
Adam11	T	C	11: 102,663,303 (GRCm39)	V238A	probably benign	Het
Amer3	A	T	1: 34,628,083 (GRCm39)	H774L	possibly damaging	Het
Anapc15	T	C	7: 101,550,236 (GRCm39)	L150P	unknown	Het
Ano8	G	T	8: 71,935,784 (GRCm39)	T278K	possibly damaging	Het
Atg16l2	T	C	7: 100,939,074 (GRCm39)	K618E	probably damaging	Het
Casz1	C	T	4: 149,028,981 (GRCm39)	S1142L	probably damaging	Het
Ccdc30	T	A	4: 119,190,813 (GRCm39)	E471D	probably damaging	Het
Cks1b	T	C	3: 89,323,635 (GRCm39)	N45D	probably benign	Het
Clasrp	T	C	7: 19,321,769 (GRCm39)	T296A	probably damaging	Het
Cluap1	C	T	16: 3,727,467 (GRCm39)		probably null	Het
Cntn5	T	A	9: 9,704,903 (GRCm39)	D632V	probably damaging	Het
Cntnap3	G	A	13: 64,920,591 (GRCm39)	Q593*	probably null	Het
Col18a1	A	T	10: 76,913,846 (GRCm39)	I457K	probably benign	Het
Crybb3	G	T	5: 113,223,834 (GRCm39)	Q192K	probably damaging	Het
Cyb561d2	C	T	9: 107,417,383 (GRCm39)	A123T	probably benign	Het
Cyp2b13	C	T	7: 25,795,095 (GRCm39)	A442V	probably damaging	Het
Cyp2j9	G	A	4: 96,457,079 (GRCm39)	T464I	probably benign	Het
Cyp4a29	G	A	4: 115,108,137 (GRCm39)	G320R	possibly damaging	Het
Dbp	T	C	7: 45,359,174 (GRCm39)	I283T	probably damaging	Het
Efcab3	T	C	11: 105,002,674 (GRCm39)	I303T	probably benign	Het
Efcab8	T	A	2: 153,629,665 (GRCm39)	V166D		Het
Efhc1	A	T	1: 21,049,744 (GRCm39)	I535F	probably benign	Het
Epb41l3	A	G	17: 69,560,409 (GRCm39)	I319V	possibly damaging	Het
Ewsr1	T	C	11: 5,035,900 (GRCm39)	T193A	unknown	Het
Fam227a	T	C	15: 79,504,913 (GRCm39)	N510S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,841 (GRCm39)	C1221R	possibly damaging	Het
Gm6741	A	C	17: 91,544,472 (GRCm39)	E78D	probably benign	Het
Gpam	C	T	19: 55,070,102 (GRCm39)	V385I	probably damaging	Het
Gpr55	A	G	1: 85,869,059 (GRCm39)	V174A	probably benign	Het
Gsdmc	T	C	15: 63,650,813 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,441,080 (GRCm39)	D5509V	possibly damaging	Het
Hoxc13	A	T	15: 102,830,293 (GRCm39)	Q224L	possibly damaging	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Igsf3	G	A	3: 101,342,857 (GRCm39)	R478H	probably damaging	Het
Itgb5	A	G	16: 33,740,486 (GRCm39)	Q532R	probably benign	Het
Jph1	T	C	1: 17,162,215 (GRCm39)	Y149C	probably damaging	Het
Lztfl1	T	C	9: 123,544,395 (GRCm39)	D33G	probably null	Het
Mex3c	G	T	18: 73,723,061 (GRCm39)	A385S	possibly damaging	Het
Myo5a	T	A	9: 75,051,366 (GRCm39)	S320T	probably benign	Het
Nsun4	A	T	4: 115,909,617 (GRCm39)	N314K	possibly damaging	Het
Omg	T	A	11: 79,393,059 (GRCm39)	E266D	probably benign	Het
Or4b12	A	T	2: 90,096,603 (GRCm39)	M57K	probably damaging	Het
Paqr9	T	A	9: 95,442,829 (GRCm39)	V273E	possibly damaging	Het
Phkg1	G	A	5: 129,902,699 (GRCm39)		probably benign	Het
Plekhm3	T	C	1: 64,960,901 (GRCm39)	K452E	probably benign	Het
Plpbp	T	A	8: 27,535,974 (GRCm39)	I86N		Het
Prl2c1	G	T	13: 28,035,780 (GRCm39)	A51S	probably damaging	Het
Prmt8	A	T	6: 127,706,466 (GRCm39)	H108Q	probably damaging	Het
Prrc2b	T	A	2: 32,107,280 (GRCm39)	C1614*	probably null	Het
Ptpdc1	A	G	13: 48,739,766 (GRCm39)	V555A	probably benign	Het
Rassf9	A	G	10: 102,381,461 (GRCm39)	D281G	probably benign	Het
Resf1	T	C	6: 149,228,853 (GRCm39)	I633T	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,745,229 (GRCm39)	S2055P	possibly damaging	Het
Six5	G	A	7: 18,830,803 (GRCm39)	A477T	probably damaging	Het
Speg	A	G	1: 75,352,469 (GRCm39)	E129G	probably damaging	Het
Stard10	C	T	7: 100,995,320 (GRCm39)	A78V	not run	Het
Stard3	T	C	11: 98,266,502 (GRCm39)	V127A	probably benign	Het
Svep1	G	A	4: 58,068,523 (GRCm39)	P3088S	probably damaging	Het
Tbck	A	G	3: 132,440,489 (GRCm39)	D508G	probably damaging	Het
Tgm2	T	A	2: 157,985,038 (GRCm39)	T23S	probably damaging	Het
Ttll10	G	T	4: 156,131,665 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,852,738 (GRCm39)	S741T	probably damaging	Het
Vmn2r13	T	C	5: 109,319,618 (GRCm39)	N454S	probably benign	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Wnt8a	T	C	18: 34,680,588 (GRCm39)	W318R	probably damaging	Het
Zer1	A	T	2: 30,001,243 (GRCm39)	L87H	probably damaging	Het
Zfp518a	T	A	19: 40,901,212 (GRCm39)	N380K	probably benign	Het
Zfp90	T	C	8: 107,145,725 (GRCm39)	V19A	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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'- TGAGTGATGCCTCTTTACTGC -3'
(R):5'- AGCCTAAGATGCGACCATG -3'

Sequencing Primer
(F):5'- GATGCCTCTTTACTGCTTTTATAAAC -3'
(R):5'- GATGCGACCATGCCATCCAG -3'

Posted On

2019-11-12