Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02951:Mrpl46'

366025

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl46

Ensembl Gene

ENSMUSG00000030612

Gene Name

mitochondrial ribosomal protein L46

Synonyms

LIECG2, P2ECSL, 3110052F15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL02951

Quality Score

Status

Chromosome

Chromosomal Location

78425089-78432837 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 78425200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032841 (fasta)

Gene Model

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

AlphaFold

Q9EQI8

Predicted Effect

probably benign
Transcript: ENSMUST00000032841

SMART Domains

Protein: ENSMUSP00000032841
Gene: ENSMUSG00000030612

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: ENSMUST00000133949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205558

Coding Region Coverage

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,290,536 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,665,868 (GRCm39)	T291I	probably benign	Het
Adam34l	T	G	8: 44,080,125 (GRCm39)	H33P	possibly damaging	Het
Atp13a3	A	G	16: 30,157,439 (GRCm39)		probably null	Het
Atp2a1	C	T	7: 126,049,399 (GRCm39)	V548M	possibly damaging	Het
Bsn	G	A	9: 107,992,812 (GRCm39)	S980L	probably damaging	Het
Ccdc158	A	G	5: 92,797,865 (GRCm39)	M425T	probably damaging	Het
Cdh23	A	G	10: 60,147,143 (GRCm39)	L2733S	probably damaging	Het
Chd3	C	T	11: 69,251,874 (GRCm39)		probably null	Het
Cimap1d	T	C	10: 79,475,811 (GRCm39)	N251S	probably benign	Het
Dock2	T	C	11: 34,260,448 (GRCm39)		probably benign	Het
Elfn2	T	C	15: 78,556,082 (GRCm39)	K822E	probably damaging	Het
Eps15l1	G	A	8: 73,112,240 (GRCm39)	S764L	probably benign	Het
Etl4	C	A	2: 20,806,348 (GRCm39)		probably benign	Het
Faap24	C	A	7: 35,092,376 (GRCm39)	K180N	probably damaging	Het
Fhod1	G	A	8: 106,057,862 (GRCm39)	R888W	probably damaging	Het
Fus	T	C	7: 127,581,009 (GRCm39)		probably benign	Het
Gm3453	T	C	14: 5,976,168 (GRCm38)	E201G	possibly damaging	Het
Gnpat	G	T	8: 125,597,644 (GRCm39)	D69Y	probably benign	Het
Gpaa1	T	A	15: 76,217,019 (GRCm39)		probably benign	Het
Gsta1	A	T	9: 78,149,819 (GRCm39)	K211*	probably null	Het
Lct	G	T	1: 128,227,948 (GRCm39)	Q1182K	probably damaging	Het
Mroh1	T	C	15: 76,311,836 (GRCm39)	L523P	probably damaging	Het
Mst1r	G	T	9: 107,785,403 (GRCm39)	V354F	possibly damaging	Het
Myo15b	A	G	11: 115,772,127 (GRCm39)	D299G	probably damaging	Het
Myo6	G	A	9: 80,171,516 (GRCm39)	V506I	possibly damaging	Het
Nadk	A	C	4: 155,671,933 (GRCm39)	K271Q	probably benign	Het
Nbas	A	G	12: 13,412,542 (GRCm39)	R954G	probably benign	Het
Nbr1	T	A	11: 101,462,805 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,835,698 (GRCm39)	D587G	possibly damaging	Het
Oas1a	A	T	5: 121,043,727 (GRCm39)	F135Y	probably damaging	Het
Obscn	A	G	11: 58,885,339 (GRCm39)		probably benign	Het
Or4k42	T	G	2: 111,320,465 (GRCm39)	I13L	probably benign	Het
Parp14	G	A	16: 35,678,903 (GRCm39)	T355I	probably benign	Het
Pdgfd	G	T	9: 6,288,494 (GRCm39)	L43F	probably damaging	Het
Pou5f2	T	C	13: 78,173,237 (GRCm39)	S60P	probably benign	Het
Prp2	A	G	6: 132,576,788 (GRCm39)	N25S	unknown	Het
Ptprq	A	T	10: 107,503,321 (GRCm39)	F779Y	probably benign	Het
Rims2	C	T	15: 39,398,334 (GRCm39)	R1078C	probably damaging	Het
Rnf38	G	T	4: 44,129,619 (GRCm39)	S425*	probably null	Het
Rps21	T	A	2: 179,899,840 (GRCm39)	I59N	probably damaging	Het
Scn5a	A	T	9: 119,324,751 (GRCm39)	F1359Y	probably damaging	Het
Slc35b2	A	G	17: 45,875,694 (GRCm39)	E67G	probably damaging	Het
Slc37a2	A	G	9: 37,166,611 (GRCm39)	F15L	probably benign	Het
Snapc4	A	C	2: 26,260,847 (GRCm39)	N465K	probably benign	Het
Spata31f1a	C	T	4: 42,850,696 (GRCm39)	E487K	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Taco1	A	G	11: 105,960,353 (GRCm39)	N98S	probably benign	Het
Tcea3	T	C	4: 135,985,299 (GRCm39)		probably null	Het
Thada	T	C	17: 84,751,456 (GRCm39)	S507G	probably benign	Het
Tmem132b	T	A	5: 125,864,611 (GRCm39)	C906S	probably damaging	Het
Trpm2	A	T	10: 77,765,112 (GRCm39)	I963N	possibly damaging	Het
Usp10	A	G	8: 120,673,825 (GRCm39)	T397A	probably benign	Het
Usp3	G	A	9: 66,449,832 (GRCm39)	R160*	probably null	Het
Utp15	T	C	13: 98,394,460 (GRCm39)	Y144C	probably damaging	Het
Xpc	G	A	6: 91,483,831 (GRCm39)	R172W	probably 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
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
R4814:Mrpl46	UTSW	7	78,430,343 (GRCm39)	missense	probably benign	0.08
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

Posted On

2015-12-18