Mutagenetix > Incidental Mutation

Incidental Mutation 'R3056:Mrpl20'

265173

Institutional Source

Beutler Lab

Gene Symbol

Mrpl20

Ensembl Gene

ENSMUSG00000029066

Gene Name

mitochondrial ribosomal protein L20

Synonyms

2610008D01Rik, 4930425I20Rik

MMRRC Submission

040565-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R3056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155887335-155893288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 155888329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 43 (V43F)

Ref Sequence

ENSEMBL: ENSMUSP00000139007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030942] [ENSMUST00000105593] [ENSMUST00000130188] [ENSMUST00000137487] [ENSMUST00000185148]

AlphaFold

Q9CQL4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030942
AA Change: V43F

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030942
Gene: ENSMUSG00000029066
AA Change: V43F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105593

SMART Domains

Protein: ENSMUSP00000101218
Gene: ENSMUSG00000078487

Domain	Start	End	E-Value	Type
ANK	32	61	2.32e2	SMART
ANK	65	94	1.31e-4	SMART
ANK	98	127	2.16e-5	SMART
ANK	165	195	2.47e0	SMART
low complexity region	205	215	N/A	INTRINSIC
low complexity region	225	237	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130188
AA Change: V43F

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139007
Gene: ENSMUSG00000029066
AA Change: V43F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137487
AA Change: V43F

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139122
Gene: ENSMUSG00000029066
AA Change: V43F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184339

Predicted Effect

probably benign
Transcript: ENSMUST00000185148

SMART Domains

Protein: ENSMUSP00000139169
Gene: ENSMUSG00000029066

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

Meta Mutation Damage Score

0.1136

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,401,268 (GRCm39)	I72T	probably benign	Het
Abca1	A	T	4: 53,127,626 (GRCm39)	M131K	probably benign	Het
Agbl1	C	T	7: 76,416,232 (GRCm39)	T751M	possibly damaging	Het
Asb14	A	G	14: 26,636,146 (GRCm39)	I510V	possibly damaging	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
C6	T	C	15: 4,769,355 (GRCm39)	I187T	probably damaging	Het
Catsper3	T	C	13: 55,956,709 (GRCm39)	S376P	unknown	Het
Ccdc150	A	G	1: 54,328,001 (GRCm39)	N361S	possibly damaging	Het
Cntn5	A	G	9: 10,419,076 (GRCm39)	L7P	probably benign	Het
Cplane1	T	C	15: 8,280,491 (GRCm39)	S2805P	unknown	Het
Cxcr6	A	T	9: 123,639,529 (GRCm39)	I177F	probably damaging	Het
Dnah7b	A	G	1: 46,307,869 (GRCm39)	D3061G	possibly damaging	Het
Epas1	T	C	17: 87,138,409 (GRCm39)	F835S	probably damaging	Het
Fat3	C	T	9: 15,871,792 (GRCm39)	R3533H	probably benign	Het
Fxr1	A	G	3: 34,103,333 (GRCm39)	E221G	probably damaging	Het
Gpatch11	A	G	17: 79,151,272 (GRCm39)	T228A	probably damaging	Het
Greb1	G	T	12: 16,738,592 (GRCm39)	T1457K	probably damaging	Het
Ighm	T	A	12: 113,382,596 (GRCm39)		probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Lmx1b	G	A	2: 33,457,297 (GRCm39)	Q168*	probably null	Het
Ltbp3	C	A	19: 5,801,434 (GRCm39)	N659K	probably benign	Het
Micos13	A	G	17: 56,915,889 (GRCm39)	F55S	probably damaging	Het
Nlgn1	T	C	3: 25,487,860 (GRCm39)	N825S	possibly damaging	Het
Or5d36	T	A	2: 87,901,583 (GRCm39)	T48S	probably benign	Het
Or5p67	A	T	7: 107,922,757 (GRCm39)	V42E	possibly damaging	Het
Or8k3b	C	A	2: 86,520,896 (GRCm39)	C141F	possibly damaging	Het
Pccb	C	T	9: 100,912,250 (GRCm39)	R79Q	probably damaging	Het
Peg10	G	A	6: 4,755,029 (GRCm39)	R270H	possibly damaging	Het
Pttg1ip2	A	T	5: 5,507,283 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Timm29	T	C	9: 21,504,887 (GRCm39)	M185T	probably damaging	Het
Tmem92	C	T	11: 94,669,873 (GRCm39)	C86Y	probably benign	Het
Tnfrsf8	C	T	4: 145,011,895 (GRCm39)		probably null	Het
Tnks1bp1	T	A	2: 84,900,344 (GRCm39)	C1433*	probably null	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vmn2r110	T	A	17: 20,803,360 (GRCm39)	Y405F	probably damaging	Het
Wiz	A	G	17: 32,576,671 (GRCm39)	S628P	probably benign	Het
Xrcc4	T	C	13: 90,210,196 (GRCm39)	T83A	probably benign	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
R4082:Mrpl20	UTSW	4	155,892,970 (GRCm39)	missense	probably damaging	0.99
R4846:Mrpl20	UTSW	4	155,892,993 (GRCm39)	missense	possibly damaging	0.85
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'- TCATGGTCTTCCTCACGACG -3'
(R):5'- CAACATCCTGCGGCTACAGAAG -3'

Sequencing Primer
(F):5'- GGAACCGCCTCACCGATC -3'
(R):5'- CTACAGAAGGCTAAGCTCCGG -3'

Posted On

2015-02-05