Mutagenetix > Incidental Mutation

Incidental Mutation 'R1498:Mrpl48'

169037

Institutional Source

Beutler Lab

Gene Symbol

Mrpl48

Ensembl Gene

ENSMUSG00000030706

Gene Name

mitochondrial ribosomal protein L48

Synonyms

1810030E20Rik, D4Ertd786e, CGI-118

MMRRC Submission

039549-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.886) question?

Stock #

R1498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100194986-100257508 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 100195695 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: I4V

SMART Domains

Protein: ENSMUSP00000067290
Gene: ENSMUSG00000030706
AA Change: I4V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209160

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (83/86)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,374,627 (GRCm39)	S799P	probably benign	Het
Acvr1b	T	C	15: 101,091,891 (GRCm39)	F57S	probably benign	Het
Adamts5	T	A	16: 85,696,990 (GRCm39)	T56S	possibly damaging	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Agr3	A	T	12: 35,984,379 (GRCm39)		probably null	Het
Ankrd6	A	G	4: 32,810,289 (GRCm39)	M405T	probably benign	Het
Aoc1l2	A	G	6: 48,908,305 (GRCm39)	H435R	probably benign	Het
Aqp5	T	C	15: 99,491,128 (GRCm39)	I60T	probably damaging	Het
Arf5	G	T	6: 28,426,153 (GRCm39)	R180L	probably benign	Het
Asap3	A	G	4: 135,966,505 (GRCm39)	N528D	probably benign	Het
Atmin	G	A	8: 117,681,540 (GRCm39)	E180K	probably benign	Het
Bcl11a	A	T	11: 24,114,005 (GRCm39)	E449D	probably damaging	Het
Cep128	A	T	12: 91,333,191 (GRCm39)	F25I	probably benign	Het
Cfp	GCAC	GC	X: 20,795,905 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,312,966 (GRCm39)	Y282F	possibly damaging	Het
Cul7	A	G	17: 46,966,636 (GRCm39)	D355G	probably benign	Het
Daxx	T	C	17: 34,131,227 (GRCm39)	Y385H	probably damaging	Het
Dnah2	A	C	11: 69,411,493 (GRCm39)		probably null	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Erc2	T	A	14: 28,024,855 (GRCm39)	M578K	probably benign	Het
Evc	T	A	5: 37,481,044 (GRCm39)	H267L	possibly damaging	Het
Exosc10	A	C	4: 148,666,243 (GRCm39)	Q837P	possibly damaging	Het
Fasn	G	A	11: 120,706,245 (GRCm39)	T1033I	probably damaging	Het
Fat1	C	A	8: 45,478,521 (GRCm39)	Y2522*	probably null	Het
Fbxw8	G	A	5: 118,203,850 (GRCm39)		probably benign	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Grm6	G	A	11: 50,748,083 (GRCm39)	V398M	probably damaging	Het
Gtpbp1	T	A	15: 79,603,222 (GRCm39)		probably null	Het
Hnf1a	A	G	5: 115,108,596 (GRCm39)	V103A	probably damaging	Het
Hsp90aa1	A	T	12: 110,662,122 (GRCm39)		probably null	Het
Iqgap2	C	T	13: 95,783,313 (GRCm39)	V1288I	probably benign	Het
Irx5	A	G	8: 93,086,514 (GRCm39)	D199G	probably damaging	Het
Klrh1	A	G	6: 129,748,703 (GRCm39)	S105P	probably damaging	Het
Krt9	G	T	11: 100,079,195 (GRCm39)	C732*	probably null	Het
Lifr	T	C	15: 7,220,099 (GRCm39)	S910P	probably damaging	Het
Lrig1	G	A	6: 94,604,968 (GRCm39)	A209V	possibly damaging	Het
Lrrk1	T	A	7: 65,952,419 (GRCm39)	R506*	probably null	Het
Lyst	T	A	13: 13,824,960 (GRCm39)	I1525K	possibly damaging	Het
Mad2l1	C	T	6: 66,516,826 (GRCm39)	Q173*	probably null	Het
Mcoln1	T	A	8: 3,562,861 (GRCm39)	I524N	probably damaging	Het
Mmp3	A	T	9: 7,446,967 (GRCm39)	D49V	possibly damaging	Het
Morc3	A	T	16: 93,650,743 (GRCm39)	N321I	probably damaging	Het
Myo6	T	A	9: 80,214,961 (GRCm39)	D1231E	probably damaging	Het
Nlrc4	A	G	17: 74,753,408 (GRCm39)	I325T	probably benign	Het
Or1j19	A	T	2: 36,677,358 (GRCm39)	I274F	probably damaging	Het
Or2ag17	T	C	7: 106,389,623 (GRCm39)	Y195C	possibly damaging	Het
Or4f61	A	T	2: 111,922,938 (GRCm39)	M36K	probably benign	Het
Or8c16	C	G	9: 38,130,676 (GRCm39)	P183A	probably damaging	Het
Or8k32	A	G	2: 86,368,902 (GRCm39)	V117A	probably benign	Het
Parvg	T	A	15: 84,218,832 (GRCm39)	S230T	possibly damaging	Het
Pcca	T	C	14: 122,854,230 (GRCm39)	I118T	probably damaging	Het
Pde6a	A	G	18: 61,365,932 (GRCm39)	N219S	possibly damaging	Het
Phldb1	G	T	9: 44,612,915 (GRCm39)	P935Q	possibly damaging	Het
Plppr5	T	C	3: 117,456,261 (GRCm39)	S261P	probably damaging	Het
Ppl	T	C	16: 4,922,629 (GRCm39)	N260S	probably benign	Het
Ppp1r3e	A	T	14: 55,113,882 (GRCm39)	H263Q	probably benign	Het
Ppp3cb	T	C	14: 20,559,567 (GRCm39)		probably null	Het
Ppt2	A	T	17: 34,842,075 (GRCm39)	D185E	probably benign	Het
Prr27	A	T	5: 87,998,600 (GRCm39)		probably benign	Het
Ptcd3	A	T	6: 71,870,479 (GRCm39)	V327E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rtp1	A	T	16: 23,249,970 (GRCm39)	M112L	probably benign	Het
Slc22a5	A	T	11: 53,760,140 (GRCm39)	L392Q	probably damaging	Het
Slc6a7	A	G	18: 61,129,764 (GRCm39)	I614T	probably benign	Het
Slu7	C	A	11: 43,329,044 (GRCm39)	P89T	possibly damaging	Het
Smarcc2	T	C	10: 128,318,061 (GRCm39)	V618A	probably benign	Het
Sorl1	C	T	9: 41,952,369 (GRCm39)	R729Q	probably damaging	Het
Sptbn2	T	C	19: 4,794,274 (GRCm39)	F1493L	possibly damaging	Het
Sulf1	C	T	1: 12,918,574 (GRCm39)	T66I	probably damaging	Het
Tgtp2	A	G	11: 48,950,165 (GRCm39)	Y136H	probably damaging	Het
Tmem117	T	C	15: 94,536,242 (GRCm39)	F92S	probably damaging	Het
Tmprss9	T	A	10: 80,730,934 (GRCm39)	V820E	probably benign	Het
Tpcn2	A	G	7: 144,822,648 (GRCm39)	Y266H	probably damaging	Het
Trat1	A	G	16: 48,555,304 (GRCm39)	S143P	probably benign	Het
Vmn1r49	T	A	6: 90,049,298 (GRCm39)	R235W	probably damaging	Het
Vmn1r71	A	T	7: 10,482,575 (GRCm39)	C38S	probably benign	Het
Vmn2r6	T	A	3: 64,463,890 (GRCm39)	T315S	probably damaging	Het
Wdr36	A	G	18: 32,986,021 (GRCm39)	D575G	possibly damaging	Het
Zfp292	G	T	4: 34,805,397 (GRCm39)	A2549E	possibly damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp648	T	A	1: 154,081,119 (GRCm39)	I426N	probably damaging	Het
Zfp87	T	C	13: 74,520,736 (GRCm39)	N114S	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
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
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'- TGGCCTTGTGCTTGGTATAAAGACG -3'
(R):5'- GAACCACTTTGGCCTTTTGGGAAC -3'

Sequencing Primer
(F):5'- TGCTTGGTATAAAGACGCACTG -3'
(R):5'- CTAGACCTGATAGATGCTGTAGGC -3'

Posted On

2014-04-13