Mutagenetix > Incidental Mutation

Incidental Mutation 'R6809:Mrpl48'

533706

Institutional Source

Beutler Lab

Gene Symbol

Mrpl48

Ensembl Gene

ENSMUSG00000030706

Gene Name

mitochondrial ribosomal protein L48

Synonyms

1810030E20Rik, D4Ertd786e, CGI-118

MMRRC Submission

044922-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.886) question?

Stock #

R6809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100194986-100257508 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 100195574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064334] [ENSMUST00000107053] [ENSMUST00000137777] [ENSMUST00000146003] [ENSMUST00000150042]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000064334
AA Change: M44T

SMART Domains

Protein: ENSMUSP00000067290
Gene: ENSMUSG00000030706
AA Change: M44T

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	71	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107053

Predicted Effect

probably benign
Transcript: ENSMUST00000137777

Predicted Effect

probably benign
Transcript: ENSMUST00000146003

Predicted Effect

probably benign
Transcript: ENSMUST00000150042

SMART Domains

Protein: ENSMUSP00000116090
Gene: ENSMUSG00000030706

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

96% (51/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	T	A	1: 192,857,089 (GRCm39)	V147E	possibly damaging	Het
Abtb3	A	G	10: 85,467,240 (GRCm39)	T732A	probably benign	Het
Adgrv1	A	T	13: 81,621,072 (GRCm39)	M3893K	probably benign	Het
Aox3	T	C	1: 58,157,840 (GRCm39)	S66P	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bloc1s5	A	G	13: 38,787,961 (GRCm39)	V141A	probably benign	Het
Bltp1	A	G	3: 36,928,431 (GRCm39)	N61S	probably damaging	Het
Col28a1	T	C	6: 7,999,468 (GRCm39)	Y1083C	probably damaging	Het
Crb1	A	G	1: 139,170,864 (GRCm39)	V842A	probably benign	Het
Dapk1	A	G	13: 60,899,103 (GRCm39)	S858G	probably benign	Het
Dlgap2	G	T	8: 14,229,619 (GRCm39)		probably benign	Het
Dpysl4	A	G	7: 138,673,576 (GRCm39)	D199G	probably benign	Het
Eml6	C	T	11: 29,753,161 (GRCm39)	V917I	probably benign	Het
Fut9	T	A	4: 25,620,647 (GRCm39)	T56S	probably benign	Het
Gtdc1	G	C	2: 44,465,563 (GRCm39)	S214*	probably null	Het
Gtdc1	A	G	2: 44,715,396 (GRCm39)	F49S	probably damaging	Het
Hoxd9	A	G	2: 74,529,590 (GRCm39)	Y282C	probably damaging	Het
Hrc	A	G	7: 44,985,803 (GRCm39)	E318G	probably benign	Het
Ikzf2	T	C	1: 69,609,661 (GRCm39)	T195A	probably damaging	Het
Krt36	A	T	11: 99,996,335 (GRCm39)	S30T	probably benign	Het
Lrp1	A	G	10: 127,390,925 (GRCm39)	F2991L	probably benign	Het
Lrrc34	T	A	3: 30,688,749 (GRCm39)	Q184L	possibly damaging	Het
Mapk1	A	T	16: 16,853,326 (GRCm39)	M49L	probably benign	Het
Mroh2a	G	T	1: 88,162,938 (GRCm39)	Q360H	probably benign	Het
Ncln	A	G	10: 81,323,512 (GRCm39)		probably null	Het
Nol4	T	A	18: 23,053,882 (GRCm39)	Q96L	probably damaging	Het
Or2y1e	G	T	11: 49,218,687 (GRCm39)	V150L	probably benign	Het
Or5g25	G	A	2: 85,478,317 (GRCm39)	A116V	probably damaging	Het
Padi2	A	G	4: 140,674,077 (GRCm39)		probably null	Het
Pak5	T	G	2: 135,939,501 (GRCm39)	I545L	possibly damaging	Het
Paqr5	T	A	9: 61,876,064 (GRCm39)	R157W	probably null	Het
Pard3b	G	A	1: 62,200,340 (GRCm39)	R293H	probably damaging	Het
Phf11d	C	A	14: 59,593,844 (GRCm39)	C110F	probably damaging	Het
Pkn2	G	A	3: 142,504,765 (GRCm39)	P804S	probably damaging	Het
Pnpla6	G	A	8: 3,584,611 (GRCm39)	C743Y	possibly damaging	Het
Pramel14	A	G	4: 143,719,651 (GRCm39)	V238A	probably benign	Het
Pramel58	C	A	5: 94,831,277 (GRCm39)	Q95K	probably benign	Het
Psip1	A	G	4: 83,386,879 (GRCm39)	M164T	probably benign	Het
Rgs22	C	G	15: 36,048,910 (GRCm39)	S914T	probably damaging	Het
Rufy4	G	A	1: 74,172,206 (GRCm39)	V310I	probably benign	Het
Ryr2	G	A	13: 11,741,816 (GRCm39)	L2122F	probably damaging	Het
Sgcb	T	G	5: 73,798,036 (GRCm39)	N142T	probably benign	Het
Slc27a6	A	G	18: 58,738,126 (GRCm39)	E394G	probably benign	Het
Slc29a2	T	C	19: 5,079,271 (GRCm39)	V298A	probably damaging	Het
Slf2	C	A	19: 44,931,907 (GRCm39)	T654N	probably damaging	Het
Spata4	A	C	8: 55,055,368 (GRCm39)	K123Q	possibly damaging	Het
Taar7b	T	C	10: 23,876,756 (GRCm39)	V307A	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ttn	T	C	2: 76,693,983 (GRCm39)	E295G	possibly damaging	Het
Ubqln4	A	T	3: 88,462,679 (GRCm39)	Q48L	possibly damaging	Het
Ugt1a10	T	A	1: 87,983,647 (GRCm39)	D148E	probably damaging	Het
Vmn2r85	T	A	10: 130,261,795 (GRCm39)	N181Y	probably benign	Het
Wdfy3	C	T	5: 102,071,813 (GRCm39)	V1026I	possibly damaging	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
R2279:Mrpl48	UTSW	7	100,214,471 (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
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'- ATGGGTTGTCAAGGCTAGCC -3'
(R):5'- AGAAGATGGTTCCCTACTTCCCTG -3'

Sequencing Primer
(F):5'- AGGCTAGCCTGCTGGAG -3'
(R):5'- TGCAGCCTTAATGCCTGG -3'

Posted On

2018-09-12