Mutagenetix > Incidental Mutation

Incidental Mutation 'R4846:Mrpl20'

372156

Institutional Source

Beutler Lab

Gene Symbol

Mrpl20

Ensembl Gene

ENSMUSG00000029066

Gene Name

mitochondrial ribosomal protein L20

Synonyms

2610008D01Rik, 4930425I20Rik

MMRRC Submission

042459-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R4846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155887335-155893288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155892993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 112 (T112A)

Ref Sequence

ENSEMBL: ENSMUSP00000139122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030942] [ENSMUST00000030944] [ENSMUST00000130188] [ENSMUST00000137487] [ENSMUST00000185148]

AlphaFold

Q9CQL4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030942
AA Change: T112A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030942
Gene: ENSMUSG00000029066
AA Change: T112A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L20	11	116	2.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030944

SMART Domains

Protein: ENSMUSP00000030944
Gene: ENSMUSG00000029068

Domain	Start	End	E-Value	Type
low complexity region	1	30	N/A	INTRINSIC
CYCLIN	81	183	8.74e-11	SMART
Cyclin_C	192	315	9.58e-5	SMART
CYCLIN	196	280	1.24e-15	SMART
low complexity region	334	351	N/A	INTRINSIC
low complexity region	376	428	N/A	INTRINSIC
Blast:CYCLIN	429	478	5e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000126346

SMART Domains

Protein: ENSMUSP00000116000
Gene: ENSMUSG00000029068

Domain	Start	End	E-Value	Type
Blast:CYCLIN	2	52	2e-28	BLAST
SCOP:d1vin_1	29	59	9e-4	SMART
SCOP:d1jkw_2	62	87	8e-4	SMART
Blast:CYCLIN	65	87	5e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129850

Predicted Effect

probably benign
Transcript: ENSMUST00000130188

SMART Domains

Protein: ENSMUSP00000139007
Gene: ENSMUSG00000029066

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L20	10	94	6.3e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136370

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137487
AA Change: T112A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139122
Gene: ENSMUSG00000029066
AA Change: T112A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L20	10	116	1.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185148
AA Change: T75A

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139169
Gene: ENSMUSG00000029066
AA Change: T75A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L20	10	79	1.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139066

Meta Mutation Damage Score

0.1367

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

100% (60/60)

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. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,393,392 (GRCm39)	H299L	probably damaging	Het
Abcb4	C	T	5: 8,985,180 (GRCm39)	A687V	probably benign	Het
Abtb3	A	G	10: 85,465,130 (GRCm39)	T657A	probably damaging	Het
Adam20	A	G	8: 41,248,048 (GRCm39)	T53A	probably benign	Het
Afg1l	G	A	10: 42,330,490 (GRCm39)	T59I	probably benign	Het
AI837181	A	G	19: 5,476,329 (GRCm39)	Q164R	probably benign	Het
Anapc15	T	A	7: 101,546,974 (GRCm39)	I12N	probably benign	Het
Ankrd55	A	C	13: 112,499,988 (GRCm39)	E278D	probably benign	Het
Axin2	A	G	11: 108,833,125 (GRCm39)	T437A	probably benign	Het
BC051665	T	C	13: 60,931,895 (GRCm39)	D168G	probably damaging	Het
Cd200	C	T	16: 45,212,664 (GRCm39)	R261H	probably benign	Het
Clk1	G	A	1: 58,460,261 (GRCm39)	S123L	probably benign	Het
Csrnp2	A	T	15: 100,382,571 (GRCm39)	D156E	probably damaging	Het
Ctss	C	T	3: 95,452,695 (GRCm39)	Q159*	probably null	Het
Dennd2b	C	A	7: 109,156,043 (GRCm39)	E236*	probably null	Het
Dip2a	A	G	10: 76,157,327 (GRCm39)	S93P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ephb6	G	A	6: 41,593,743 (GRCm39)	R542Q	probably benign	Het
Fmo3	T	C	1: 162,781,880 (GRCm39)	D491G	possibly damaging	Het
Galnt14	A	T	17: 73,843,888 (GRCm39)	M140K	probably benign	Het
Ghsr	T	C	3: 27,425,986 (GRCm39)	V14A	probably benign	Het
Gm17546	C	A	15: 95,727,843 (GRCm39)		probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hc	A	G	2: 34,909,682 (GRCm39)	V866A	probably benign	Het
Hoxb6	G	A	11: 96,190,348 (GRCm39)	G116R	probably damaging	Het
Hykk	A	G	9: 54,827,890 (GRCm39)	Y43C	probably damaging	Het
Jade2	T	C	11: 51,711,975 (GRCm39)	T495A	probably benign	Het
Kansl1	A	T	11: 104,233,798 (GRCm39)	V755E	possibly damaging	Het
Lrp2	T	A	2: 69,309,457 (GRCm39)	D2814V	probably damaging	Het
Mbd5	T	A	2: 49,147,009 (GRCm39)	N406K	probably damaging	Het
Met	A	T	6: 17,491,928 (GRCm39)	D230V	probably damaging	Het
Mrgprx2	A	T	7: 48,132,584 (GRCm39)	V78D	probably damaging	Het
Nek11	T	A	9: 105,040,362 (GRCm39)	E566D	probably damaging	Het
Nostrin	T	C	2: 69,005,923 (GRCm39)	S235P	probably damaging	Het
Npas4	C	A	19: 5,036,805 (GRCm39)	S453I	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Psg18	A	T	7: 18,084,711 (GRCm39)	Y128*	probably null	Het
Ptges3l	A	T	11: 101,310,010 (GRCm39)		probably benign	Het
Pus1	T	C	5: 110,927,796 (GRCm39)		probably benign	Het
Raf1	T	A	6: 115,621,544 (GRCm39)	S12C	possibly damaging	Het
Rps6-ps2	T	G	8: 89,533,206 (GRCm39)		noncoding transcript	Het
Slc5a4b	A	G	10: 75,898,073 (GRCm39)	L547P	probably damaging	Het
Socs3	A	G	11: 117,858,654 (GRCm39)	S135P	probably benign	Het
Spata31d1e	T	C	13: 59,890,047 (GRCm39)	D591G	probably benign	Het
Stra6l	G	A	4: 45,873,682 (GRCm39)	V281M	possibly damaging	Het
Suco	G	A	1: 161,661,977 (GRCm39)	T818I	possibly damaging	Het
Syde1	A	T	10: 78,424,731 (GRCm39)	V367D	probably damaging	Het
Tet3	A	T	6: 83,353,865 (GRCm39)	L932*	probably null	Het
Trpm7	G	A	2: 126,655,105 (GRCm39)	L1278F	possibly damaging	Het
Vmn1r168	A	T	7: 23,240,490 (GRCm39)	T116S	probably damaging	Het
Wfdc6b	A	G	2: 164,459,214 (GRCm39)	Q92R	possibly damaging	Het

Other mutations in Mrpl20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Mrpl20	APN	4	155,893,041 (GRCm39)	missense	probably benign	0.00
R3055:Mrpl20	UTSW	4	155,888,329 (GRCm39)	missense	possibly damaging	0.89
R3056:Mrpl20	UTSW	4	155,888,329 (GRCm39)	missense	possibly damaging	0.89
R4082:Mrpl20	UTSW	4	155,892,970 (GRCm39)	missense	probably damaging	0.99
R5305:Mrpl20	UTSW	4	155,888,162 (GRCm39)	missense	probably damaging	1.00
R5779:Mrpl20	UTSW	4	155,891,378 (GRCm39)	missense	probably damaging	1.00
R6576:Mrpl20	UTSW	4	155,891,371 (GRCm39)	missense	probably benign	0.08
R9360:Mrpl20	UTSW	4	155,888,402 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGCAGGCCTGGAACTTACAG -3'
(R):5'- TCACTGAATAAAGACCTGTCGTC -3'

Sequencing Primer
(F):5'- CTGGAACTTACAGGTTCTATGGTGC -3'
(R):5'- CTCAGGCCTGTTGCTAAAATG -3'

Posted On

2016-03-01