Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03085:Mrpl46'

418061

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 #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

78425089-78432837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78431333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 75 (I75N)

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 damaging
Transcript: ENSMUST00000032841
AA Change: I75N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032841
Gene: ENSMUSG00000030612
AA Change: I75N

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: ENSMUST00000205558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136001

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 64,208,881 (GRCm39)	H230Q	probably benign	Het
Aagab	T	A	9: 63,546,316 (GRCm39)		probably benign	Het
Actl11	G	T	9: 107,806,749 (GRCm39)	K357N	probably damaging	Het
Aktip	A	G	8: 91,852,651 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,529,501 (GRCm39)		probably benign	Het
Arhgap21	T	A	2: 20,919,532 (GRCm39)	M58L	probably benign	Het
Art2b	T	A	7: 101,229,785 (GRCm39)	Y38F	probably damaging	Het
Asb10	T	C	5: 24,744,601 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,395,471 (GRCm39)	D1699E	possibly damaging	Het
Azi2	A	C	9: 117,888,214 (GRCm39)	K259T	probably damaging	Het
Bcas3	A	G	11: 85,367,609 (GRCm39)	D77G	probably damaging	Het
Birc6	G	A	17: 74,903,945 (GRCm39)	R1246H	probably damaging	Het
Cdh13	C	A	8: 120,015,463 (GRCm39)	D559E	probably damaging	Het
Chrm3	C	T	13: 9,927,570 (GRCm39)	A489T	probably damaging	Het
Ckap2l	A	T	2: 129,126,967 (GRCm39)	Y404N	probably benign	Het
Col18a1	A	G	10: 76,895,015 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,272,198 (GRCm39)	K731*	probably null	Het
Corin	A	T	5: 72,511,273 (GRCm39)	C360S	probably damaging	Het
Cyp1a1	A	C	9: 57,608,995 (GRCm39)	H292P	possibly damaging	Het
Dennd5b	A	G	6: 148,928,893 (GRCm39)	V760A	probably damaging	Het
Dhx57	T	C	17: 80,565,526 (GRCm39)	D842G	possibly damaging	Het
Emp2	C	A	16: 10,105,910 (GRCm39)		probably benign	Het
Eral1	G	A	11: 77,969,093 (GRCm39)	R136C	probably damaging	Het
Fat2	T	A	11: 55,174,072 (GRCm39)	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211 (GRCm38)	R304H	probably benign	Het
G6pd2	A	T	5: 61,967,645 (GRCm39)	E473D	probably benign	Het
Gpx8	A	G	13: 113,179,795 (GRCm39)	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,471,461 (GRCm39)	S19P	possibly damaging	Het
Ikbkb	G	T	8: 23,172,802 (GRCm39)	N139K	probably benign	Het
Inpp5b	A	T	4: 124,686,115 (GRCm39)	T720S	probably benign	Het
Kmt2d	C	A	15: 98,737,821 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,374,575 (GRCm39)	P169S	probably damaging	Het
Magi3	T	A	3: 103,922,655 (GRCm39)	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,757,865 (GRCm39)	D103V	probably damaging	Het
Or3a1c	T	A	11: 74,046,511 (GRCm39)	I177N	probably damaging	Het
Or8b41	A	G	9: 38,054,479 (GRCm39)	E16G	probably damaging	Het
Or8d2b	G	A	9: 38,788,959 (GRCm39)	M162I	probably benign	Het
Otog	G	T	7: 45,955,346 (GRCm39)		probably null	Het
Pex11a	A	G	7: 79,387,523 (GRCm39)	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,358,305 (GRCm39)	T687A	probably benign	Het
Ppm1d	A	G	11: 85,227,989 (GRCm39)	I302V	probably null	Het
Prdm11	C	A	2: 92,805,304 (GRCm39)	V549F	possibly damaging	Het
Prss54	G	A	8: 96,292,258 (GRCm39)	P107L	probably benign	Het
Rasa3	T	A	8: 13,635,690 (GRCm39)	N422I	probably benign	Het
Rbm27	T	C	18: 42,460,589 (GRCm39)		probably benign	Het
Rpl13-ps3	A	T	14: 59,131,156 (GRCm39)		noncoding transcript	Het
Rps6ka2	G	A	17: 7,562,679 (GRCm39)		probably null	Het
Sphkap	T	A	1: 83,258,075 (GRCm39)	I223F	possibly damaging	Het
Srm	T	C	4: 148,677,838 (GRCm39)	F159L	probably damaging	Het
Stt3a	A	G	9: 36,644,266 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,638,027 (GRCm39)	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,921,260 (GRCm39)		probably benign	Het
Tmub1	C	T	5: 24,651,096 (GRCm39)	G188S	probably damaging	Het
Trim66	T	A	7: 109,057,952 (GRCm39)	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,812 (GRCm39)	E471G	probably damaging	Het
Vmn1r218	A	T	13: 23,321,481 (GRCm39)	Y196F	possibly damaging	Het
Vmn2r89	T	A	14: 51,689,615 (GRCm39)	D39E	probably damaging	Het
Wee1	C	A	7: 109,723,805 (GRCm39)	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,020,813 (GRCm39)	V10D	probably benign	Het
Zzef1	T	C	11: 72,746,350 (GRCm39)		probably benign	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
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

2016-08-02