Mutagenetix > Incidental Mutation

Incidental Mutation 'R8973:Mrpl16'

683287

Institutional Source

Beutler Lab

Gene Symbol

Mrpl16

Ensembl Gene

ENSMUSG00000024683

Gene Name

mitochondrial ribosomal protein L16

Synonyms

2310039D06Rik

MMRRC Submission

068807-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11747779-11752320 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 11750307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 64 (R64*)

Ref Sequence

ENSEMBL: ENSMUSP00000128915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047698] [ENSMUST00000069285] [ENSMUST00000075304] [ENSMUST00000167199] [ENSMUST00000211641]

AlphaFold

Q99N93

Predicted Effect

probably benign
Transcript: ENSMUST00000047698

SMART Domains

Protein: ENSMUSP00000037317
Gene: ENSMUSG00000041488

Domain	Start	End	E-Value	Type
SynN	27	146	5.39e-41	SMART
t_SNARE	186	253	1.07e-19	SMART
transmembrane domain	265	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069285

SMART Domains

Protein: ENSMUSP00000069529
Gene: ENSMUSG00000041488

Domain	Start	End	E-Value	Type
SynN	27	146	5.39e-41	SMART
t_SNARE	186	253	6.87e-18	SMART
transmembrane domain	264	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075304

SMART Domains

Protein: ENSMUSP00000074776
Gene: ENSMUSG00000041488

Domain	Start	End	E-Value	Type
SynN	27	128	1.13e-16	SMART
t_SNARE	168	235	1.07e-19	SMART
transmembrane domain	247	268	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167199
AA Change: R64*

SMART Domains

Protein: ENSMUSP00000128915
Gene: ENSMUSG00000024683
AA Change: R64*

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L16	59	190	2.7e-30	PFAM
low complexity region	200	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211641

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (77/77)

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 39S subunit protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	T	13: 70,886,959 (GRCm39)	I975N	probably benign	Het
Adcy8	A	G	15: 64,570,984 (GRCm39)	*1250Q	probably null	Het
Anapc1	A	T	2: 128,505,952 (GRCm39)	I628N	probably damaging	Het
Ankrd39	C	T	1: 36,578,439 (GRCm39)		probably benign	Het
Ankub1	A	T	3: 57,572,932 (GRCm39)	S263R	possibly damaging	Het
Aoah	A	G	13: 21,024,325 (GRCm39)	I94V	probably benign	Het
Aox1	A	G	1: 58,329,113 (GRCm39)	D186G	probably benign	Het
Arap2	A	T	5: 62,855,668 (GRCm39)	C589*	probably null	Het
Armt1	T	C	10: 4,389,550 (GRCm39)	L69P	probably damaging	Het
Atxn7l3	T	A	11: 102,183,598 (GRCm39)	Y185F	probably benign	Het
Cacna2d4	A	G	6: 119,218,142 (GRCm39)	D159G	probably damaging	Het
Camta2	C	A	11: 70,561,184 (GRCm39)	R1184L	probably benign	Het
Ccdc192	T	G	18: 57,725,139 (GRCm39)	L123V	possibly damaging	Het
Ccr7	G	A	11: 99,036,649 (GRCm39)	T91I	probably damaging	Het
Cdh9	A	G	15: 16,831,131 (GRCm39)	T323A	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Clec2e	C	A	6: 129,070,374 (GRCm39)	G216*	probably null	Het
Col25a1	T	C	3: 130,269,275 (GRCm39)	S176P	unknown	Het
Col4a3	A	C	1: 82,693,052 (GRCm39)	I1446L	probably benign	Het
Cplane1	T	C	15: 8,233,277 (GRCm39)	W1201R	probably damaging	Het
Cse1l	A	G	2: 166,785,000 (GRCm39)	E823G	probably damaging	Het
Cspg4b	A	G	13: 113,456,293 (GRCm39)	T780A		Het
Dchs2	A	G	3: 83,261,763 (GRCm39)	E2677G	possibly damaging	Het
Dis3l	T	C	9: 64,246,824 (GRCm39)	E77G	probably damaging	Het
Dnah6	T	C	6: 73,121,734 (GRCm39)	D1416G	probably benign	Het
Dpyd	T	C	3: 119,108,582 (GRCm39)		probably null	Het
Dst	A	G	1: 34,267,936 (GRCm39)	D3112G	probably damaging	Het
Dusp13b	A	C	14: 21,784,974 (GRCm39)	N128K	probably benign	Het
Emilin2	T	G	17: 71,582,079 (GRCm39)	K216Q	probably benign	Het
Enam	T	C	5: 88,641,947 (GRCm39)	W254R	possibly damaging	Het
Esrrg	A	C	1: 187,930,947 (GRCm39)	N346T	possibly damaging	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fbxw25	A	G	9: 109,479,132 (GRCm39)	L373P		Het
Gm21060	C	A	19: 61,285,366 (GRCm39)	V48L	possibly damaging	Het
Gtpbp3	T	C	8: 71,943,806 (GRCm39)	V254A	possibly damaging	Het
H2-DMb2	A	G	17: 34,367,699 (GRCm39)	D171G	probably damaging	Het
Hrg	A	T	16: 22,777,968 (GRCm39)	T242S	probably benign	Het
Inf2	G	T	12: 112,573,949 (GRCm39)	C751F	unknown	Het
Krt13	A	T	11: 100,010,264 (GRCm39)	M239K	possibly damaging	Het
Lrrc72	A	G	12: 36,303,293 (GRCm39)	S7P	probably benign	Het
Matn2	A	G	15: 34,433,196 (GRCm39)	I867V	probably benign	Het
Mdh2	C	T	5: 135,819,019 (GRCm39)	A325V	possibly damaging	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Nav1	T	C	1: 135,512,463 (GRCm39)	D199G	probably benign	Het
Nbn	T	C	4: 15,986,585 (GRCm39)	V662A	probably damaging	Het
Nek10	G	A	14: 14,931,321 (GRCm38)		probably null	Het
Or14a257	A	G	7: 86,138,487 (GRCm39)	S91P	probably damaging	Het
Or5t18	C	A	2: 86,637,200 (GRCm39)	V48F	probably benign	Het
Or7g12	C	A	9: 18,899,974 (GRCm39)	S230*	probably null	Het
Or8b37	T	A	9: 37,958,839 (GRCm39)	V107D	possibly damaging	Het
Pcsk7	T	G	9: 45,838,940 (GRCm39)	S617R	probably benign	Het
Pde10a	C	A	17: 9,143,071 (GRCm39)	Q6K	probably benign	Het
Pigq	A	C	17: 26,151,141 (GRCm39)	M396R	probably damaging	Het
Pkhd1l1	T	A	15: 44,449,833 (GRCm39)	D3865E	probably damaging	Het
Prag1	C	T	8: 36,566,744 (GRCm39)		probably benign	Het
Rbis	C	T	3: 14,672,305 (GRCm39)	V97I	probably benign	Het
Rint1	A	G	5: 24,016,728 (GRCm39)	T498A	probably benign	Het
Rnf213	T	A	11: 119,352,756 (GRCm39)	F3921I		Het
Rpp14	A	G	14: 8,088,768 (GRCm38)	S95G	probably benign	Het
Ryk	T	G	9: 102,739,120 (GRCm39)	Y78D	possibly damaging	Het
Sez6	A	T	11: 77,865,397 (GRCm39)	Q678L	probably damaging	Het
Slc22a21	T	C	11: 53,860,402 (GRCm39)	K141E	probably damaging	Het
Slc30a5	A	T	13: 100,943,202 (GRCm39)	I609K	probably damaging	Het
Slc44a4	T	C	17: 35,140,538 (GRCm39)	F244L	probably damaging	Het
Spata31e1	A	T	13: 49,941,715 (GRCm39)	D80E	probably benign	Het
Susd5	T	C	9: 113,911,572 (GRCm39)	Y161H	possibly damaging	Het
Syne3	A	G	12: 104,925,654 (GRCm39)		probably null	Het
Tbcd	G	C	11: 121,387,679 (GRCm39)		probably benign	Het
Tektip1	T	C	10: 81,199,849 (GRCm39)	D129G	unknown	Het
Tmc1	A	T	19: 20,878,215 (GRCm39)	N93K	probably benign	Het
Tmem100	T	A	11: 89,926,302 (GRCm39)	M43K	probably benign	Het
Tmem131l	A	T	3: 83,836,039 (GRCm39)	V690D	probably damaging	Het
Trim8	A	G	19: 46,503,903 (GRCm39)	Q485R	possibly damaging	Het
Vmn2r63	A	T	7: 42,577,919 (GRCm39)	H206Q	probably benign	Het
Vmn2r77	T	A	7: 86,452,150 (GRCm39)	N443K	possibly damaging	Het
Zan	T	A	5: 137,387,578 (GRCm39)	I4878F	unknown	Het
Zfand4	A	G	6: 116,291,041 (GRCm39)	D344G	probably benign	Het

Other mutations in Mrpl16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Mrpl16	APN	19	11,751,777 (GRCm39)	missense	probably benign	0.02
R1670:Mrpl16	UTSW	19	11,751,959 (GRCm39)	nonsense	probably null
R2993:Mrpl16	UTSW	19	11,751,895 (GRCm39)	missense	possibly damaging	0.94
R3972:Mrpl16	UTSW	19	11,750,239 (GRCm39)	missense	probably benign	0.09
R6285:Mrpl16	UTSW	19	11,750,332 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGTGTCGCTAGAAACATC -3'
(R):5'- GGAACCCAGTAGCCTAGTTC -3'

Sequencing Primer
(F):5'- TGTCGCTAGAAACATCCAGAGGC -3'
(R):5'- GGAACCCAGTAGCCTAGTTCTATATC -3'

Posted On

2021-10-11