Mutagenetix > Incidental Mutation

Incidental Mutation 'R9355:Mrpl21'

708386

Institutional Source

Beutler Lab

Gene Symbol

Mrpl21

Ensembl Gene

ENSMUSG00000024829

Gene Name

mitochondrial ribosomal protein L21

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R9355 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3332997-3342837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3336937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 103 (V103M)

Ref Sequence

ENSEMBL: ENSMUSP00000025745 (fasta)

Gene Model

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

AlphaFold

Q9D1N9

Predicted Effect

probably damaging
Transcript: ENSMUST00000025743
AA Change: V103M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025743
Gene: ENSMUSG00000024829
AA Change: V103M

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 damaging
Transcript: ENSMUST00000025745
AA Change: V103M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025745
Gene: ENSMUSG00000024829
AA Change: V103M

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

probably benign
Transcript: ENSMUST00000141610

SMART Domains

Protein: ENSMUSP00000120330
Gene: ENSMUSG00000024829

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,681,817 (GRCm39)	V747A	probably benign	Het
Arfgef1	G	A	1: 10,270,000 (GRCm39)	P383L	probably benign	Het
Arhgef4	A	G	1: 34,849,630 (GRCm39)	E407G	probably benign	Het
Astn1	C	T	1: 158,511,721 (GRCm39)	L1188F	probably damaging	Het
Atg2b	G	A	12: 105,636,980 (GRCm39)	P179S	possibly damaging	Het
Bcl9l	G	A	9: 44,419,000 (GRCm39)	R983H	probably benign	Het
Bmp2k	T	A	5: 97,211,366 (GRCm39)	Y511*	probably null	Het
C1galt1	G	T	6: 7,866,474 (GRCm39)	V107F	probably damaging	Het
Car3	T	A	3: 14,928,664 (GRCm39)	N11K		Het
Ccdc170	A	G	10: 4,508,695 (GRCm39)	R640G	probably benign	Het
Cep126	A	G	9: 8,100,038 (GRCm39)	V832A	possibly damaging	Het
Ces1h	C	T	8: 94,101,149 (GRCm39)	V49I		Het
Clasp2	T	A	9: 113,664,309 (GRCm39)	V310D	probably damaging	Het
Comp	C	T	8: 70,828,699 (GRCm39)	T177M	probably benign	Het
Coro1c	T	C	5: 114,003,726 (GRCm39)	S98G	probably damaging	Het
Cpa6	C	T	1: 10,479,520 (GRCm39)	V238I	probably benign	Het
Crebrf	T	C	17: 26,962,094 (GRCm39)	F397S	probably damaging	Het
Dcpp1	C	A	17: 24,099,987 (GRCm39)	Q3K	possibly damaging	Het
Dzip1l	A	G	9: 99,543,144 (GRCm39)	D533G	possibly damaging	Het
Ecpas	A	T	4: 58,844,114 (GRCm39)	S551T	probably benign	Het
Epha5	T	C	5: 84,253,890 (GRCm39)	E524G	probably damaging	Het
Epha7	A	G	4: 28,935,806 (GRCm39)	Y476C	probably damaging	Het
Erich5	G	T	15: 34,471,001 (GRCm39)	V77F	probably damaging	Het
Fat4	A	G	3: 39,036,047 (GRCm39)	Y3233C	probably damaging	Het
Ggt1	T	A	10: 75,421,716 (GRCm39)	V521E	probably benign	Het
Gm5431	A	G	11: 48,785,275 (GRCm39)	Y89H	probably damaging	Het
Gm5624	A	T	14: 44,799,272 (GRCm39)	L95*	probably null	Het
Gphn	A	G	12: 78,538,968 (GRCm39)	T205A	probably damaging	Het
Grik5	C	A	7: 24,767,597 (GRCm39)	A28S	possibly damaging	Het
H2-K2	A	G	17: 34,216,120 (GRCm39)	S300P	probably benign	Het
H2-Oa	T	C	17: 34,313,723 (GRCm39)	L227P	possibly damaging	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Hmcn2	A	T	2: 31,328,302 (GRCm39)	M4328L	probably benign	Het
Htt	A	T	5: 35,053,247 (GRCm39)	M2527L	probably benign	Het
Impdh2	A	T	9: 108,442,402 (GRCm39)	H466L	probably benign	Het
Itgae	G	A	11: 73,006,906 (GRCm39)	G384D	probably damaging	Het
Krt90	T	C	15: 101,461,714 (GRCm39)	S496G	unknown	Het
Krtap5-5	A	G	7: 141,783,114 (GRCm39)	S179P	unknown	Het
Lif	C	T	11: 4,219,044 (GRCm39)	R63W	probably damaging	Het
Lrrc10	T	C	10: 116,881,881 (GRCm39)	V185A	probably damaging	Het
Lrrc27	A	C	7: 138,822,648 (GRCm39)	Q513P	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Map2k3	T	C	11: 60,823,055 (GRCm39)	S3P	possibly damaging	Het
Mc2r	T	C	18: 68,541,195 (GRCm39)	T33A	probably benign	Het
Mefv	T	A	16: 3,525,882 (GRCm39)	D795V	probably damaging	Het
Megf6	A	T	4: 154,338,282 (GRCm39)	R451W	probably damaging	Het
Mtmr14	GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC	GCCGCCGCCTC	6: 113,214,948 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,384,888 (GRCm39)	S760P	probably damaging	Het
Ndst4	A	G	3: 125,403,246 (GRCm39)	Y451C	probably damaging	Het
Nkain4	T	C	2: 180,577,775 (GRCm39)	N193S	possibly damaging	Het
Opa1	T	A	16: 29,432,807 (GRCm39)	L490H	probably damaging	Het
Opcml	A	C	9: 28,814,650 (GRCm39)	I301L	probably benign	Het
Or10ak16	G	A	4: 118,750,784 (GRCm39)	S168N	probably benign	Het
Or1e33	A	G	11: 73,738,643 (GRCm39)	F103L	probably damaging	Het
Or4p23	A	T	2: 88,576,749 (GRCm39)	I161N	probably damaging	Het
Or52s19	T	C	7: 103,008,125 (GRCm39)	H92R	probably benign	Het
Pabpc1l	T	C	2: 163,884,469 (GRCm39)	L402P	probably benign	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Peak1	G	T	9: 56,167,454 (GRCm39)	A158E	probably damaging	Het
Ppfibp2	C	T	7: 107,322,169 (GRCm39)	P406L	probably benign	Het
Qpctl	T	C	7: 18,875,146 (GRCm39)	H362R	probably damaging	Het
Ripor2	A	G	13: 24,885,694 (GRCm39)	H643R	probably benign	Het
Scn11a	A	T	9: 119,584,160 (GRCm39)	L1485Q	probably damaging	Het
Scn2a	A	T	2: 65,594,433 (GRCm39)	I1761F	probably damaging	Het
Scrn3	A	G	2: 73,166,077 (GRCm39)	D370G	probably benign	Het
Sec24b	A	T	3: 129,787,489 (GRCm39)	F877Y	possibly damaging	Het
Slc35f3	T	C	8: 127,108,967 (GRCm39)	I172T	probably damaging	Het
Smc3	T	C	19: 53,622,544 (GRCm39)		probably null	Het
Smpd3	C	T	8: 106,991,825 (GRCm39)	V243M	probably damaging	Het
Sos1	T	A	17: 80,722,479 (GRCm39)	I856F	possibly damaging	Het
Sp2	A	T	11: 96,852,231 (GRCm39)	L231H	possibly damaging	Het
Syne1	T	C	10: 5,318,255 (GRCm39)	Y457C	probably damaging	Het
Tdpoz6	T	C	3: 93,600,307 (GRCm39)	T21A	possibly damaging	Het
Tekt5	T	C	16: 10,213,268 (GRCm39)	T6A	possibly damaging	Het
Tln2	G	T	9: 67,262,529 (GRCm39)	T574K	possibly damaging	Het
Tmem161a	T	C	8: 70,633,821 (GRCm39)	S313P	probably damaging	Het
Trmt12	G	A	15: 58,744,824 (GRCm39)	C74Y	probably damaging	Het
Trpc6	A	G	9: 8,649,473 (GRCm39)	D561G	probably benign	Het
Ttn	A	G	2: 76,700,769 (GRCm39)	V62A		Het
Tubgcp5	T	C	7: 55,467,177 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,098,375 (GRCm39)	V1137M	possibly damaging	Het
Zfp729a	A	G	13: 67,767,515 (GRCm39)	C905R	probably damaging	Het
Zfp735	A	G	11: 73,602,362 (GRCm39)	I435M	probably benign	Het
Zswim4	C	A	8: 84,955,687 (GRCm39)	G271W	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
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
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'- AACAGGATGAGGGTTCTGCTC -3'
(R):5'- TGAGAAAACCCTCAGCCATG -3'

Sequencing Primer
(F):5'- GAAGTAACACTTCCTGCCAGTG -3'
(R):5'- ATGCTCACTAGGTGCCAGAGTC -3'

Posted On

2022-04-18