Mutagenetix > Incidental Mutation

Incidental Mutation 'R2279:Mrpl48'

242970

Institutional Source

Beutler Lab

Gene Symbol

Mrpl48

Ensembl Gene

ENSMUSG00000030706

Gene Name

mitochondrial ribosomal protein L48

Synonyms

1810030E20Rik, D4Ertd786e, CGI-118

MMRRC Submission

040278-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R2279 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100194986-100257508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100214471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 48 (T48I)

Ref Sequence

ENSEMBL: ENSMUSP00000117055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107053] [ENSMUST00000132888] [ENSMUST00000137777] [ENSMUST00000138448] [ENSMUST00000146003] [ENSMUST00000150042] [ENSMUST00000152876]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000107053

Predicted Effect

probably benign
Transcript: ENSMUST00000132888

Predicted Effect

probably benign
Transcript: ENSMUST00000137777

Predicted Effect

probably benign
Transcript: ENSMUST00000138448

Predicted Effect

probably benign
Transcript: ENSMUST00000146003

Predicted Effect

probably benign
Transcript: ENSMUST00000150042
AA Change: T43I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000116090
Gene: ENSMUSG00000030706
AA Change: T43I

Domain	Start	End	E-Value	Type
low complexity region	62	74	N/A	INTRINSIC
Pfam:Ribosomal_S10	91	186	2.6e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000152876
AA Change: T48I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	T	5: 90,412,576 (GRCm39)	N1249K	probably damaging	Het
Anks1b	T	C	10: 89,885,958 (GRCm39)	M218T	probably damaging	Het
Arfgef2	G	C	2: 166,707,679 (GRCm39)	G1025A	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Arhgap42	T	C	9: 9,035,512 (GRCm39)	M277V	probably benign	Het
Cabin1	T	C	10: 75,589,295 (GRCm39)	I87M	probably benign	Het
Cdc42bpa	A	G	1: 179,864,484 (GRCm39)	N149D	probably damaging	Het
Cdh20	C	A	1: 104,875,139 (GRCm39)	A307E	probably damaging	Het
Cdk18	A	T	1: 132,043,690 (GRCm39)	Y385N	probably damaging	Het
Cfap410	T	C	10: 77,817,476 (GRCm39)	Y68H	probably damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cptp	A	G	4: 155,950,878 (GRCm39)	I196T	probably damaging	Het
Cyp4b1	T	A	4: 115,497,557 (GRCm39)	Y147F	probably benign	Het
Dbf4	T	C	5: 8,471,333 (GRCm39)	N36S	possibly damaging	Het
Dbr1	G	T	9: 99,462,200 (GRCm39)	Q166H	probably benign	Het
Ddx42	T	A	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dnah17	T	C	11: 117,987,387 (GRCm39)	K1308E	possibly damaging	Het
Dpep1	A	T	8: 123,920,883 (GRCm39)	D21V	probably benign	Het
Dspp	G	A	5: 104,326,250 (GRCm39)	S871N	unknown	Het
En1	T	A	1: 120,534,916 (GRCm39)	*402K	probably null	Het
Eogt	G	T	6: 97,111,262 (GRCm39)	R200S	probably benign	Het
Epb41l3	A	G	17: 69,577,645 (GRCm39)	T542A	possibly damaging	Het
Fam50b	C	T	13: 34,930,823 (GRCm39)	Q100*	probably null	Het
Gask1a	T	C	9: 121,794,668 (GRCm39)	I274T	probably benign	Het
Gh	T	C	11: 106,191,613 (GRCm39)	E143G	probably damaging	Het
Hcn3	C	A	3: 89,055,168 (GRCm39)	R693L	probably benign	Het
Htra1	A	T	7: 130,563,752 (GRCm39)	I208F	probably damaging	Het
Ifna13	T	A	4: 88,562,156 (GRCm39)	E156V	probably benign	Het
Ints6	A	G	14: 62,942,131 (GRCm39)		probably null	Het
Kifc5b	A	G	17: 27,144,515 (GRCm39)	I545V	probably damaging	Het
Lrrc4c	C	T	2: 97,460,850 (GRCm39)	S492F	possibly damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Map2k6	T	C	11: 110,390,290 (GRCm39)	S275P	probably damaging	Het
Mpp2	T	C	11: 101,955,127 (GRCm39)	E166G	probably damaging	Het
Neu1	A	G	17: 35,153,350 (GRCm39)	D291G	probably damaging	Het
Nktr	A	G	9: 121,560,603 (GRCm39)	K116E	possibly damaging	Het
Npc1	T	C	18: 12,330,236 (GRCm39)		probably null	Het
Or6b9	A	T	7: 106,555,834 (GRCm39)	M103K	probably benign	Het
Or6c1b	A	T	10: 129,273,526 (GRCm39)	M282L	probably benign	Het
Or8k1	T	C	2: 86,047,148 (GRCm39)	E302G	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Phactr1	A	T	13: 43,231,265 (GRCm39)	S244C	possibly damaging	Het
Prex1	A	T	2: 166,419,875 (GRCm39)	I79N	probably benign	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Rnf32	G	T	5: 29,430,278 (GRCm39)	V366F	probably benign	Het
Rpn2	A	G	2: 157,152,208 (GRCm39)	T394A	possibly damaging	Het
Ryr3	A	T	2: 112,479,664 (GRCm39)	M4386K	possibly damaging	Het
Sirt7	T	C	11: 120,515,321 (GRCm39)	S112G	probably damaging	Het
Slc1a6	A	T	10: 78,624,882 (GRCm39)	M96L	probably benign	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Slc30a2	G	T	4: 134,075,857 (GRCm39)	Q210H	probably benign	Het
Sorcs2	A	T	5: 36,199,430 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Sytl3	A	G	17: 6,976,273 (GRCm39)		probably benign	Het
Tasor	A	C	14: 27,164,452 (GRCm39)	K253Q	probably damaging	Het
Tgm7	A	G	2: 120,929,045 (GRCm39)	S284P	probably damaging	Het
Tmem45a	A	T	16: 56,643,882 (GRCm39)	L89Q	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Txlna	T	C	4: 129,525,935 (GRCm39)	E304G	probably damaging	Het
Zfp709	T	C	8: 72,642,934 (GRCm39)	V121A	probably benign	Het

Other mutations in Mrpl48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Mrpl48	APN	7	100,199,739 (GRCm39)	splice site	probably benign
IGL01838:Mrpl48	APN	7	100,201,860 (GRCm39)	missense	probably damaging	1.00
IGL02395:Mrpl48	APN	7	100,195,551 (GRCm39)	utr 3 prime	probably benign
IGL02878:Mrpl48	APN	7	100,223,720 (GRCm39)	missense	possibly damaging	0.92
R0195:Mrpl48	UTSW	7	100,195,560 (GRCm39)	utr 3 prime	probably benign
R1498:Mrpl48	UTSW	7	100,195,695 (GRCm39)	utr 3 prime	probably benign
R1619:Mrpl48	UTSW	7	100,195,482 (GRCm39)	utr 3 prime	probably benign
R2058:Mrpl48	UTSW	7	100,198,540 (GRCm39)	missense	probably damaging	1.00
R2059:Mrpl48	UTSW	7	100,198,540 (GRCm39)	missense	probably damaging	1.00
R3952:Mrpl48	UTSW	7	100,209,130 (GRCm39)	splice site	probably benign
R4682:Mrpl48	UTSW	7	100,198,576 (GRCm39)	missense	probably damaging	0.96
R4887:Mrpl48	UTSW	7	100,195,616 (GRCm39)	utr 3 prime	probably benign
R5225:Mrpl48	UTSW	7	100,198,535 (GRCm39)	missense	probably damaging	0.97
R5278:Mrpl48	UTSW	7	100,201,790 (GRCm39)	missense	probably damaging	1.00
R5405:Mrpl48	UTSW	7	100,209,000 (GRCm39)	missense	probably damaging	1.00
R6209:Mrpl48	UTSW	7	100,209,001 (GRCm39)	missense	probably damaging	1.00
R6809:Mrpl48	UTSW	7	100,195,574 (GRCm39)	utr 3 prime	probably benign
R7666:Mrpl48	UTSW	7	100,214,408 (GRCm39)	missense	probably benign
R8518:Mrpl48	UTSW	7	100,232,269 (GRCm39)	start gained	probably benign
R8983:Mrpl48	UTSW	7	100,223,702 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCGAGGACCAACTCTATAGC -3'
(R):5'- TGGGAGCCTCGTTAAAATGTAC -3'

Sequencing Primer
(F):5'- GAGGACCAACTCTATAGCCTTTACAG -3'
(R):5'- GGAGCCTCGTTAAAATGTACTTTGTC -3'

Posted On

2014-10-16