Mutagenetix > Incidental Mutation

Incidental Mutation 'R0079:Mrpl21'

19629

Institutional Source

Beutler Lab

Gene Symbol

Mrpl21

Ensembl Gene

ENSMUSG00000024829

Gene Name

mitochondrial ribosomal protein L21

Synonyms

MMRRC Submission

038366-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R0079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3332997-3342837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3334807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 50 (Y50H)

Ref Sequence

ENSEMBL: ENSMUSP00000025745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025743] [ENSMUST00000025745] [ENSMUST00000025751] [ENSMUST00000119292] [ENSMUST00000141610] [ENSMUST00000154537]

AlphaFold

Q9D1N9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025743
AA Change: Y50H

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025743
Gene: ENSMUSG00000024829
AA Change: Y50H

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Ribosomal_L21p	99	197	7.5e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025745
AA Change: Y50H

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025745
Gene: ENSMUSG00000024829
AA Change: Y50H

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Ribosomal_L21p	99	192	6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025751

SMART Domains

Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831

Domain	Start	End	E-Value	Type
DEXDc	187	446	8.99e-6	SMART
AAA	205	374	9.08e-6	SMART
low complexity region	598	609	N/A	INTRINSIC
R3H	704	783	1.2e-22	SMART
low complexity region	784	813	N/A	INTRINSIC
low complexity region	858	869	N/A	INTRINSIC
ZnF_AN1	895	935	5.65e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119292

SMART Domains

Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831

Domain	Start	End	E-Value	Type
DEXDc	187	446	8.99e-6	SMART
AAA	205	374	9.08e-6	SMART
low complexity region	598	609	N/A	INTRINSIC
R3H	704	783	1.2e-22	SMART
low complexity region	784	813	N/A	INTRINSIC
low complexity region	858	869	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139844

Predicted Effect

probably benign
Transcript: ENSMUST00000141610
AA Change: Y50H

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120330
Gene: ENSMUSG00000024829
AA Change: Y50H

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
PDB:4CE4\|V	14	53	1e-5	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000154537

SMART Domains

Protein: ENSMUSP00000122827
Gene: ENSMUSG00000024831

Domain	Start	End	E-Value	Type
PDB:4B3F\|X	3	160	2e-80	PDB
low complexity region	230	244	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185105

Meta Mutation Damage Score

0.0760

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

78% (155/199)

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. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,057,183 (GRCm39)	T105S	possibly damaging	Het
Abca13	G	A	11: 9,243,493 (GRCm39)	M1785I	probably benign	Het
Adamts3	G	C	5: 89,840,912 (GRCm39)	P804A	probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ank2	G	T	3: 126,728,264 (GRCm39)	D776E	probably benign	Het
Cep152	T	A	2: 125,460,373 (GRCm39)	K193M	possibly damaging	Het
Cep55	C	T	19: 38,048,769 (GRCm39)	L142F	probably benign	Het
Chd5	A	G	4: 152,470,206 (GRCm39)	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,471,034 (GRCm39)	L890P	probably damaging	Het
Cul9	C	A	17: 46,848,589 (GRCm39)	E716*	probably null	Het
Cytip	T	A	2: 58,050,006 (GRCm39)	D21V	probably benign	Het
Denr	T	G	5: 124,062,908 (GRCm39)	F137C	probably damaging	Het
Dhrs3	A	T	4: 144,646,618 (GRCm39)	S197C	probably damaging	Het
Egr4	A	T	6: 85,489,751 (GRCm39)	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,192,676 (GRCm39)	Q835*	probably null	Het
Gckr	A	G	5: 31,463,883 (GRCm39)	I268V	probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hpd	T	C	5: 123,319,544 (GRCm39)	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,338,889 (GRCm39)	F16I	probably benign	Het
Ildr2	A	T	1: 166,135,289 (GRCm39)	Y347F	probably damaging	Het
Kcnv1	T	C	15: 44,976,729 (GRCm39)	D186G	probably damaging	Het
Khdrbs2	A	G	1: 32,558,996 (GRCm39)		probably null	Het
L1cam	G	T	X: 72,913,364 (GRCm39)	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768 (GRCm39)	H161R	probably damaging	Het
Mctp2	T	A	7: 71,863,864 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mitf	A	C	6: 97,973,401 (GRCm39)	M220L	probably benign	Het
Myh1	T	A	11: 67,104,237 (GRCm39)	L968Q	probably damaging	Het
Myo3b	A	G	2: 69,925,502 (GRCm39)	K18E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,330,729 (GRCm39)	T556S	possibly damaging	Het
Nsmf	T	C	2: 24,949,096 (GRCm39)		probably benign	Het
Nsun7	C	T	5: 66,452,856 (GRCm39)	P558S	probably benign	Het
Or10h5	G	A	17: 33,435,079 (GRCm39)	R80C	probably benign	Het
Or1e34	T	G	11: 73,778,563 (GRCm39)	I212L	probably benign	Het
Or56a3	T	C	7: 104,735,135 (GRCm39)	S71P	probably damaging	Het
Or5d40	A	T	2: 88,015,698 (GRCm39)	Y159F	possibly damaging	Het
Phf19	T	C	2: 34,785,966 (GRCm39)	N501S	probably benign	Het
Ranbp17	A	C	11: 33,450,682 (GRCm39)	I85S	probably damaging	Het
Robo1	A	G	16: 72,730,230 (GRCm39)		probably benign	Het
Sntg1	A	G	1: 8,749,286 (GRCm39)		probably benign	Het
Snx15	A	G	19: 6,173,943 (GRCm39)	L58P	probably damaging	Het
Spink5	G	T	18: 44,110,831 (GRCm39)	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,532 (GRCm39)		probably null	Het
Taf1d	C	T	9: 15,221,240 (GRCm39)	A182V	probably benign	Het
Tenm3	A	G	8: 48,796,380 (GRCm39)	V475A	possibly damaging	Het
Tent4b	T	A	8: 88,926,631 (GRCm39)	Y14N	possibly damaging	Het
Tgds	A	T	14: 118,353,647 (GRCm39)	H223Q	possibly damaging	Het
Thoc2	G	T	X: 40,952,985 (GRCm39)	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Trak2	A	T	1: 58,965,883 (GRCm39)	L97Q	probably damaging	Het
Trnau1ap	A	G	4: 132,041,656 (GRCm39)	Y145H	probably damaging	Het
Vars2	A	T	17: 35,970,048 (GRCm39)	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,735 (GRCm39)	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,408,777 (GRCm39)	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdr64	T	C	1: 175,622,668 (GRCm39)	M805T	probably benign	Het
Xdh	G	A	17: 74,198,213 (GRCm39)	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,466,914 (GRCm39)	Y94*	probably null	Het
Zfp641	T	C	15: 98,186,970 (GRCm39)	N218D	probably benign	Het
Zscan22	T	C	7: 12,638,014 (GRCm39)		probably null	Het

Other mutations in Mrpl21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03184:Mrpl21	APN	19	3,342,529 (GRCm39)	unclassified	probably benign
R0410:Mrpl21	UTSW	19	3,334,792 (GRCm39)	missense	possibly damaging	0.83
R0449:Mrpl21	UTSW	19	3,342,459 (GRCm39)	unclassified	probably benign
R1458:Mrpl21	UTSW	19	3,334,808 (GRCm39)	missense	possibly damaging	0.75
R4229:Mrpl21	UTSW	19	3,336,901 (GRCm39)	missense	probably damaging	0.98
R5269:Mrpl21	UTSW	19	3,337,012 (GRCm39)	missense	probably damaging	1.00
R5327:Mrpl21	UTSW	19	3,337,009 (GRCm39)	splice site	probably null
R6148:Mrpl21	UTSW	19	3,333,084 (GRCm39)	missense	probably benign	0.00
R6708:Mrpl21	UTSW	19	3,336,890 (GRCm39)	missense	probably damaging	1.00
R7219:Mrpl21	UTSW	19	3,336,998 (GRCm39)	missense	probably benign	0.02
R7840:Mrpl21	UTSW	19	3,337,752 (GRCm39)	missense	probably damaging	1.00
R8377:Mrpl21	UTSW	19	3,342,487 (GRCm39)	missense	unknown
R9355:Mrpl21	UTSW	19	3,336,937 (GRCm39)	missense	probably damaging	1.00
R9476:Mrpl21	UTSW	19	3,337,704 (GRCm39)	missense	probably damaging	1.00
R9530:Mrpl21	UTSW	19	3,340,998 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCCCCTGGACTGTTCACAGACAAG -3'
(R):5'- GCTATGGAGGGGCATAAAACCCAC -3'

Sequencing Primer
(F):5'- TCACAGACAAGTTGTAATACAGTAGG -3'
(R):5'- gctgaaggaggaacccaag -3'

Posted On

2013-04-11