Mutagenetix > Incidental Mutation

Incidental Mutation 'R4814:Mrpl46'

369639

Institutional Source

Beutler Lab

Gene Symbol

Mrpl46

Ensembl Gene

ENSMUSG00000030612

Gene Name

mitochondrial ribosomal protein L46

Synonyms

LIECG2, P2ECSL, 3110052F15Rik

MMRRC Submission

042432-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R4814 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78425089-78432837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78430343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 142 (N142K)

Ref Sequence

ENSEMBL: ENSMUSP00000032841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032840] [ENSMUST00000032841] [ENSMUST00000133553]

AlphaFold

Q9EQI8

Predicted Effect

probably benign
Transcript: ENSMUST00000032840

SMART Domains

Protein: ENSMUSP00000032840
Gene: ENSMUSG00000030611

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S11	81	190	1.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032841
AA Change: N142K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032841
Gene: ENSMUSG00000030612
AA Change: N142K

Domain	Start	End	E-Value	Type
Pfam:MRP-L46	43	139	2e-22	PFAM
SCOP:d1ktga_	152	276	1e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133304

Predicted Effect

probably benign
Transcript: ENSMUST00000133553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205558

Meta Mutation Damage Score

0.0879

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (79/79)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	G	16: 56,471,116 (GRCm39)	V587G	probably benign	Het
Abtb2	A	G	2: 103,547,632 (GRCm39)	D1002G	probably benign	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acsm1	A	T	7: 119,254,687 (GRCm39)	I385L	probably benign	Het
Adra1a	C	G	14: 66,875,481 (GRCm39)	A152G	probably benign	Het
Agbl4	A	T	4: 111,513,565 (GRCm39)	Y437F	possibly damaging	Het
Amt	A	G	9: 108,176,979 (GRCm39)	T196A	probably benign	Het
Apobr	G	A	7: 126,185,859 (GRCm39)	V457M	probably benign	Het
Birc6	A	G	17: 74,956,667 (GRCm39)	K3563E	probably damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Chrna9	T	C	5: 66,134,492 (GRCm39)	W448R	probably damaging	Het
Cyp4a31	A	T	4: 115,427,466 (GRCm39)	D224V	probably damaging	Het
Ddx10	C	A	9: 53,115,405 (GRCm39)	R643L	possibly damaging	Het
Dip2c	A	G	13: 9,586,896 (GRCm39)	H200R	probably benign	Het
Dnah8	A	T	17: 30,986,898 (GRCm39)	R3182S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Egfr	T	C	11: 16,819,354 (GRCm39)	C295R	probably damaging	Het
Garem1	A	T	18: 21,281,173 (GRCm39)	N394K	probably damaging	Het
Gcat	T	C	15: 78,915,322 (GRCm39)		probably null	Het
Gckr	C	T	5: 31,455,644 (GRCm39)	Q66*	probably null	Het
Gm26996	A	T	6: 130,556,317 (GRCm39)		noncoding transcript	Het
Gm9386	C	A	17: 81,246,141 (GRCm39)		noncoding transcript	Het
Gpr6	A	T	10: 40,947,258 (GRCm39)	M108K	possibly damaging	Het
H2-Q10	A	C	17: 35,784,481 (GRCm39)		probably benign	Het
Hpf1	A	G	8: 61,346,841 (GRCm39)	D52G	probably damaging	Het
Jak2	A	G	19: 29,279,377 (GRCm39)	R989G	probably damaging	Het
Kat7	A	G	11: 95,193,949 (GRCm39)		probably benign	Het
Kcnn3	G	T	3: 89,570,031 (GRCm39)	V615F	probably damaging	Het
Lgi1	G	T	19: 38,289,326 (GRCm39)		probably null	Het
Lrrtm4	A	T	6: 80,000,117 (GRCm39)	T510S	possibly damaging	Het
Map7d1	A	G	4: 126,128,114 (GRCm39)		probably null	Het
Mapt	T	C	11: 104,189,786 (GRCm39)	V252A	probably benign	Het
Mbd4	A	T	6: 115,826,260 (GRCm39)	S223T	possibly damaging	Het
Meig1	T	A	2: 3,412,959 (GRCm39)	I21L	probably benign	Het
Mia3	A	G	1: 183,113,684 (GRCm39)	Y447H	probably damaging	Het
Myo18a	C	A	11: 77,750,062 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,216,523 (GRCm39)	T776A	possibly damaging	Het
Oas1h	C	A	5: 121,000,728 (GRCm39)	H113N	probably damaging	Het
Or6c202	T	A	10: 128,996,245 (GRCm39)	T203S	possibly damaging	Het
Or7g18	A	G	9: 18,787,213 (GRCm39)	I197V	probably benign	Het
Or7g27	C	T	9: 19,250,476 (GRCm39)	T240M	probably damaging	Het
Or9i1b	A	T	19: 13,896,817 (GRCm39)	L144F	possibly damaging	Het
Orc3	T	A	4: 34,572,450 (GRCm39)		probably benign	Het
Osbpl3	T	A	6: 50,329,980 (GRCm39)	L65F	probably damaging	Het
Papola	C	A	12: 105,765,912 (GRCm39)	P4Q	probably damaging	Het
Pepd	A	G	7: 34,645,022 (GRCm39)	N151S	probably damaging	Het
Plekhm2	A	G	4: 141,355,150 (GRCm39)	L959P	probably benign	Het
Prpf40a	A	T	2: 53,080,032 (GRCm39)	H82Q	probably damaging	Het
Robo1	C	T	16: 72,768,923 (GRCm39)	T496M	probably benign	Het
Samd9l	T	G	6: 3,372,863 (GRCm39)	Q1466P	probably damaging	Het
Serpina1a	T	C	12: 103,821,022 (GRCm39)	T342A	probably benign	Het
Serpina3i	A	G	12: 104,231,470 (GRCm39)	T36A	probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Slc35g1	A	G	19: 38,391,275 (GRCm39)	S186G	possibly damaging	Het
Slco6d1	T	A	1: 98,350,899 (GRCm39)	D126E	probably benign	Het
Smchd1	A	G	17: 71,718,763 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,687,337 (GRCm39)	T355K	probably damaging	Het
Sntg2	A	G	12: 30,423,267 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,284 (GRCm39)	M152L	probably benign	Het
Spats2l	G	T	1: 57,977,085 (GRCm39)	A308S	possibly damaging	Het
Tcf12	T	C	9: 71,777,323 (GRCm39)		probably benign	Het
Tcf7l2	T	A	19: 55,912,504 (GRCm39)	C478*	probably null	Het
Tekt5	A	G	16: 10,200,771 (GRCm39)	L250P	probably damaging	Het
Tmem132d	T	G	5: 128,061,328 (GRCm39)	I425L	probably benign	Het
Tmem174	T	A	13: 98,773,456 (GRCm39)	I125F	probably damaging	Het
Trafd1	T	G	5: 121,512,079 (GRCm39)	I404L	probably benign	Het
Trpm5	G	A	7: 142,636,373 (GRCm39)	P500S	possibly damaging	Het
Trpm6	T	A	19: 18,839,576 (GRCm39)	N1616K	probably benign	Het
Vmn1r4	A	G	6: 56,933,715 (GRCm39)	D73G	possibly damaging	Het
Vmn2r85	T	A	10: 130,254,567 (GRCm39)	I706F	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp982	A	G	4: 147,597,090 (GRCm39)	Q149R	possibly damaging	Het

Other mutations in Mrpl46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Mrpl46	APN	7	78,432,724 (GRCm39)	missense	probably benign	0.20
IGL02951:Mrpl46	APN	7	78,425,200 (GRCm39)	utr 3 prime	probably benign
IGL03085:Mrpl46	APN	7	78,431,333 (GRCm39)	missense	probably damaging	0.98
R0669:Mrpl46	UTSW	7	78,432,631 (GRCm39)	nonsense	probably null
R1958:Mrpl46	UTSW	7	78,431,146 (GRCm39)	critical splice donor site	probably null
R2047:Mrpl46	UTSW	7	78,431,312 (GRCm39)	missense	probably damaging	0.99
R5568:Mrpl46	UTSW	7	78,430,242 (GRCm39)	missense	probably damaging	1.00
R6747:Mrpl46	UTSW	7	78,432,729 (GRCm39)	missense	probably benign	0.01
R7252:Mrpl46	UTSW	7	78,430,336 (GRCm39)	missense	probably benign	0.01
R7253:Mrpl46	UTSW	7	78,431,207 (GRCm39)	missense	probably damaging	1.00
R9256:Mrpl46	UTSW	7	78,432,671 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTAAAGAGTCTACCTGAGAGTGTG -3'
(R):5'- GCTCGAACTTTCACAGGCATTG -3'

Sequencing Primer
(F):5'- TCTACCTGAGAGTGTGGCCAG -3'
(R):5'- CCAAATGTTTCAGCTATACGTTGC -3'

Posted On

2016-02-04