Mutagenetix > Incidental Mutation

Incidental Mutation 'R0410:Mrpl21'

36625

Institutional Source

Beutler Lab

Gene Symbol

Mrpl21

Ensembl Gene

ENSMUSG00000024829

Gene Name

mitochondrial ribosomal protein L21

Synonyms

MMRRC Submission

038612-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R0410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3332997-3342837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3334792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 45 (S45P)

Ref Sequence

ENSEMBL: ENSMUSP00000120330 (fasta)

Gene Model

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

AlphaFold

Q9D1N9

Predicted Effect

probably benign
Transcript: ENSMUST00000025743
AA Change: S45P

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025743
Gene: ENSMUSG00000024829
AA Change: S45P

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

probably benign
Transcript: ENSMUST00000025745
AA Change: S45P

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025745
Gene: ENSMUSG00000024829
AA Change: S45P

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

possibly damaging
Transcript: ENSMUST00000141610
AA Change: S45P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120330
Gene: ENSMUSG00000024829
AA Change: S45P

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: ENSMUST00000154785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185105

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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. 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,268 (GRCm39)	D170G	probably benign	Het
Actrt3	C	T	3: 30,652,273 (GRCm39)	G274S	probably benign	Het
Adamts18	G	T	8: 114,440,990 (GRCm39)	C889*	probably null	Het
Alkbh6	C	T	7: 30,012,031 (GRCm39)	P104S	probably damaging	Het
Alms1	A	T	6: 85,564,785 (GRCm39)	E53V	unknown	Het
Ap3s1	T	C	18: 46,912,279 (GRCm39)	C100R	probably benign	Het
Apbb2	G	T	5: 66,609,149 (GRCm39)	A166E	possibly damaging	Het
Asph	A	G	4: 9,595,415 (GRCm39)	V174A	probably damaging	Het
Cacna2d2	T	C	9: 107,401,819 (GRCm39)	L758P	probably damaging	Het
Cacng5	A	G	11: 107,768,195 (GRCm39)	S271P	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Chn1	A	T	2: 73,462,094 (GRCm39)	C236*	probably null	Het
Coro1b	T	C	19: 4,199,362 (GRCm39)	V7A	probably damaging	Het
Dhx16	A	G	17: 36,201,859 (GRCm39)	Y962C	probably damaging	Het
Dixdc1	T	C	9: 50,596,153 (GRCm39)	D152G	probably damaging	Het
Dmrt1	T	C	19: 25,483,467 (GRCm39)	S84P	probably damaging	Het
Dnah10	A	G	5: 124,832,799 (GRCm39)	D844G	probably benign	Het
Edn3	C	T	2: 174,603,482 (GRCm39)	P77S	possibly damaging	Het
Efcab7	T	C	4: 99,735,487 (GRCm39)		probably null	Het
Fam83g	A	G	11: 61,594,218 (GRCm39)	D584G	probably damaging	Het
Fbxo7	T	A	10: 85,865,102 (GRCm39)		probably null	Het
Ffar1	T	C	7: 30,560,055 (GRCm39)	T281A	probably benign	Het
Fntb	T	C	12: 76,934,826 (GRCm39)	V201A	probably benign	Het
Gart	C	A	16: 91,438,215 (GRCm39)	A101S	probably damaging	Het
Gbp9	T	C	5: 105,232,939 (GRCm39)	T238A	probably benign	Het
Hectd4	T	C	5: 121,424,329 (GRCm39)	L663S	possibly damaging	Het
Helz2	A	T	2: 180,872,386 (GRCm39)	V2512E	probably damaging	Het
Hip1	A	C	5: 135,487,009 (GRCm39)	L66R	probably damaging	Het
Iigp1	T	A	18: 60,523,375 (GRCm39)	D164E	probably benign	Het
Kcnip3	A	G	2: 127,301,986 (GRCm39)	S193P	probably damaging	Het
Klra9	T	A	6: 130,165,707 (GRCm39)	T103S	probably benign	Het
Meis2	T	C	2: 115,694,709 (GRCm39)	*471W	probably null	Het
Minar1	T	G	9: 89,484,256 (GRCm39)	E380D	probably damaging	Het
Mterf1b	A	G	5: 4,246,488 (GRCm39)	E43G	probably benign	Het
Mycbp2	G	T	14: 103,372,569 (GRCm39)	S4092R	probably damaging	Het
Nfatc3	A	T	8: 106,822,828 (GRCm39)	N538I	probably damaging	Het
Nphp4	T	C	4: 152,641,503 (GRCm39)	C1095R	probably benign	Het
Npm2	T	A	14: 70,889,993 (GRCm39)	T13S	probably benign	Het
Or1m1	C	A	9: 18,666,137 (GRCm39)	V265F	probably damaging	Het
Or7e176	T	A	9: 20,171,797 (GRCm39)	F220L	probably benign	Het
Plcg2	A	T	8: 118,342,112 (GRCm39)	I1158F	probably damaging	Het
Popdc3	T	C	10: 45,193,829 (GRCm39)	V210A	possibly damaging	Het
Postn	T	C	3: 54,292,698 (GRCm39)	L755S	possibly damaging	Het
Prdx6b	T	C	2: 80,123,373 (GRCm39)	F61L	probably damaging	Het
Rars1	C	T	11: 35,716,847 (GRCm39)	R223H	probably damaging	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Scaf4	A	G	16: 90,057,058 (GRCm39)	Y98H	unknown	Het
Scn4a	A	G	11: 106,214,775 (GRCm39)	I1274T	probably damaging	Het
Senp2	G	T	16: 21,828,444 (GRCm39)	R18L	probably damaging	Het
Six5	T	A	7: 18,830,381 (GRCm39)	V336D	probably damaging	Het
Slc31a2	G	A	4: 62,210,890 (GRCm39)	E8K	probably benign	Het
Slc4a7	A	T	14: 14,738,299 (GRCm38)	T184S	probably damaging	Het
Slco2a1	T	A	9: 102,950,513 (GRCm39)		probably null	Het
Smr3a	T	G	5: 88,156,070 (GRCm39)		probably benign	Het
Sqor	T	C	2: 122,629,442 (GRCm39)	V100A	probably benign	Het
Srarp	T	C	4: 141,160,459 (GRCm39)	N125D	possibly damaging	Het
Stam	T	C	2: 14,143,802 (GRCm39)	V364A	probably benign	Het
Tgm5	T	C	2: 120,908,039 (GRCm39)	I46V	possibly damaging	Het
Tie1	A	T	4: 118,337,766 (GRCm39)	V443E	probably damaging	Het
Tipin	T	C	9: 64,195,397 (GRCm39)	M1T	probably null	Het
Tnc	T	C	4: 63,925,931 (GRCm39)	T950A	probably benign	Het
Tns3	T	C	11: 8,385,852 (GRCm39)	D1382G	probably benign	Het
Tor1aip1	A	G	1: 155,911,686 (GRCm39)	V99A	possibly damaging	Het
Trim16	C	T	11: 62,711,297 (GRCm39)		probably benign	Het
Ttn	G	T	2: 76,618,701 (GRCm39)	N14448K	possibly damaging	Het
Ttn	C	T	2: 76,717,204 (GRCm39)		probably benign	Het
Tut4	A	G	4: 108,343,752 (GRCm39)	R255G	probably benign	Het
Vmn1r23	A	G	6: 57,903,175 (GRCm39)	I201T	probably benign	Het
Vmn2r13	T	A	5: 109,321,679 (GRCm39)	K339N	probably benign	Het
Yap1	A	G	9: 8,001,468 (GRCm39)	Y173H	probably damaging	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
R0079:Mrpl21	UTSW	19	3,334,807 (GRCm39)	missense	possibly damaging	0.50
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'- TGCTCCCCTGGACTGTTCACAGAC -3'
(R):5'- TCACATGCCCAGGAAAGGCAGC -3'

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

Posted On

2013-05-09