Mutagenetix > Incidental Mutation

Incidental Mutation 'R2698:Mrps23'

251351

Institutional Source

Beutler Lab

Gene Symbol

Mrps23

Ensembl Gene

ENSMUSG00000023723

Gene Name

mitochondrial ribosomal protein S23

Synonyms

Rpms23, D11Bwg1153e, 2310047I09Rik

MMRRC Submission

040436-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R2698 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88095214-88102333 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 88096193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024486] [ENSMUST00000107915] [ENSMUST00000118784] [ENSMUST00000139170]

AlphaFold

Q8VE22

Predicted Effect

probably benign
Transcript: ENSMUST00000024486

SMART Domains

Protein: ENSMUSP00000024486
Gene: ENSMUSG00000023723

Domain	Start	End	E-Value	Type
Pfam:MRP-S23	2	130	2e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107915

SMART Domains

Protein: ENSMUSP00000103548
Gene: ENSMUSG00000023723

Domain	Start	End	E-Value	Type
Pfam:MRP-S23	2	99	1.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118784

SMART Domains

Protein: ENSMUSP00000113512
Gene: ENSMUSG00000023723

Domain	Start	End	E-Value	Type
Pfam:MRP-S23	1	114	1.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139170

SMART Domains

Protein: ENSMUSP00000117416
Gene: ENSMUSG00000023723

Domain	Start	End	E-Value	Type
Pfam:MRP-S23	1	114	4.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144070

SMART Domains

Protein: ENSMUSP00000122963
Gene: ENSMUSG00000023723

Domain	Start	End	E-Value	Type
Pfam:MRP-S23	15	73	8.9e-18	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,578,862 (GRCm39)	R901G	possibly damaging	Het
Abhd18	T	A	3: 40,885,401 (GRCm39)	M262K	probably benign	Het
Ano2	C	A	6: 125,689,309 (GRCm39)	L145I	probably benign	Het
Ckap5	T	C	2: 91,408,426 (GRCm39)	W874R	probably damaging	Het
Cox4i1	G	T	8: 121,396,102 (GRCm39)		probably benign	Het
Cwc27	A	T	13: 104,943,259 (GRCm39)	N94K	probably damaging	Het
Dcaf11	T	C	14: 55,804,342 (GRCm39)	S372P	probably damaging	Het
Dpysl4	A	G	7: 138,676,681 (GRCm39)	N356S	probably damaging	Het
Dusp8	A	G	7: 141,635,701 (GRCm39)		probably benign	Het
Erc2	G	A	14: 27,993,662 (GRCm39)	V894M	probably benign	Het
Fbxo28	T	A	1: 182,144,719 (GRCm39)	I282F	probably benign	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gabra4	T	C	5: 71,729,421 (GRCm39)	H453R	probably benign	Het
Glrx	T	A	13: 75,988,065 (GRCm39)		probably null	Het
Gm11541	A	T	11: 94,586,441 (GRCm39)	L102*	probably null	Het
Gm5113	T	A	7: 29,878,150 (GRCm39)	Y79*	probably null	Het
Gpr87	T	A	3: 59,086,587 (GRCm39)	N306I	probably damaging	Het
Hydin	T	A	8: 111,336,561 (GRCm39)	Y5113N	possibly damaging	Het
Iqsec3	C	T	6: 121,390,430 (GRCm39)		probably benign	Het
Kbtbd8	C	A	6: 95,103,570 (GRCm39)	Y406*	probably null	Het
Lamb1	G	T	12: 31,348,882 (GRCm39)	R590L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lnpk	T	C	2: 74,367,845 (GRCm39)	E165G	probably damaging	Het
Lrp4	C	T	2: 91,305,557 (GRCm39)	R276C	probably damaging	Het
Lrrc7	T	A	3: 157,841,028 (GRCm39)	T1384S	probably benign	Het
Mia2	T	C	12: 59,217,780 (GRCm39)		probably null	Het
Morc2a	T	C	11: 3,635,400 (GRCm39)	V797A	probably damaging	Het
Muc17	A	T	5: 137,175,484 (GRCm39)	I62K	probably damaging	Het
Nlrp4g	T	A	9: 124,349,630 (GRCm38)		noncoding transcript	Het
Nptx1	A	T	11: 119,435,669 (GRCm39)		probably benign	Het
Or1j20	T	A	2: 36,760,208 (GRCm39)	I210K	possibly damaging	Het
Pabpc1l	T	G	2: 163,886,302 (GRCm39)		probably null	Het
Pdcd6ip	A	T	9: 113,503,575 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plcxd1	A	G	5: 110,250,349 (GRCm39)	Q230R	probably benign	Het
Psme4	T	A	11: 30,824,282 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptch1	T	A	13: 63,690,038 (GRCm39)	N320Y	probably damaging	Het
Qars1	G	A	9: 108,385,642 (GRCm39)	V60I	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhag	T	C	17: 41,147,367 (GRCm39)	S410P	probably damaging	Het
Rnf213	A	G	11: 119,300,970 (GRCm39)	K297E	probably benign	Het
Rps6ka4	T	C	19: 6,814,720 (GRCm39)	E294G	probably benign	Het
Scaf4	T	A	16: 90,041,244 (GRCm39)	I695F	unknown	Het
Scrn2	T	C	11: 96,923,122 (GRCm39)		probably benign	Het
Scx	T	A	15: 76,342,363 (GRCm39)	C188S	probably damaging	Het
Sdk1	G	T	5: 142,197,805 (GRCm39)	V1893L	possibly damaging	Het
Sema5a	C	A	15: 32,673,546 (GRCm39)	Q795K	probably damaging	Het
Slc24a3	A	G	2: 145,455,487 (GRCm39)	S459G	probably benign	Het
Smurf1	A	G	5: 144,820,372 (GRCm39)		probably benign	Het
Taar4	T	C	10: 23,837,328 (GRCm39)	Y313H	probably damaging	Het
Tmprss11c	A	G	5: 86,419,322 (GRCm39)	F79S	probably damaging	Het
Tnfaip8l2	T	A	3: 95,047,672 (GRCm39)	I64F	possibly damaging	Het
Trbv13-1	A	G	6: 41,093,372 (GRCm39)	T102A	probably damaging	Het
Trpa1	A	T	1: 14,976,222 (GRCm39)	N160K	probably damaging	Het
Ttc22	A	G	4: 106,496,435 (GRCm39)	Y495C	probably benign	Het
Usp50	A	G	2: 126,619,949 (GRCm39)	I121T	probably damaging	Het
Vmn2r117	A	G	17: 23,678,885 (GRCm39)	S780P	probably damaging	Het
Vmn2r66	A	T	7: 84,644,607 (GRCm39)	V601D	probably damaging	Het
Wapl	G	A	14: 34,413,734 (GRCm39)	A199T	probably benign	Het
Zfp658	A	G	7: 43,222,969 (GRCm39)	T415A	possibly damaging	Het
Zfp760	C	T	17: 21,939,935 (GRCm39)	T9I	probably damaging	Het
Zfp998	A	G	13: 66,581,495 (GRCm39)	S59P	probably damaging	Het

Other mutations in Mrps23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03081:Mrps23	APN	11	88,101,043 (GRCm39)	missense	probably benign	0.02
IGL03247:Mrps23	APN	11	88,100,922 (GRCm39)	splice site	probably benign
R0183:Mrps23	UTSW	11	88,100,980 (GRCm39)	missense	probably damaging	1.00
R0347:Mrps23	UTSW	11	88,101,519 (GRCm39)	missense	probably benign
R0492:Mrps23	UTSW	11	88,101,511 (GRCm39)	missense	probably benign	0.02
R2917:Mrps23	UTSW	11	88,100,743 (GRCm39)	missense	probably damaging	1.00
R3434:Mrps23	UTSW	11	88,100,940 (GRCm39)	missense	probably damaging	1.00
R7393:Mrps23	UTSW	11	88,095,284 (GRCm39)	missense	probably damaging	1.00
R9702:Mrps23	UTSW	11	88,100,998 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAAGGACGAGGGATCTGATGC -3'
(R):5'- GTCAGTTTAGTCTCCAGATTCCAC -3'

Sequencing Primer
(F):5'- AGGGATCTGATGCGGGCC -3'
(R):5'- ATGGCTCAGTGGTTAAGAGC -3'

Posted On

2014-12-04