Mutagenetix > Incidental Mutation

Incidental Mutation 'R5225:Mrpl48'

402554

Institutional Source

Beutler Lab

Gene Symbol

Mrpl48

Ensembl Gene

ENSMUSG00000030706

Gene Name

mitochondrial ribosomal protein L48

Synonyms

1810030E20Rik, D4Ertd786e, CGI-118

MMRRC Submission

042798-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R5225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100194986-100257508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100198535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 206 (L206V)

Ref Sequence

ENSEMBL: ENSMUSP00000116090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064334] [ENSMUST00000107053] [ENSMUST00000132888] [ENSMUST00000137777] [ENSMUST00000138448] [ENSMUST00000146003] [ENSMUST00000150042]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064334

SMART Domains

Protein: ENSMUSP00000067290
Gene: ENSMUSG00000030706

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: ENSMUST00000132888

Predicted Effect

probably benign
Transcript: ENSMUST00000137777

Predicted Effect

probably benign
Transcript: ENSMUST00000138448

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146003
AA Change: L108V

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000150042
AA Change: L206V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116090
Gene: ENSMUSG00000030706
AA Change: L206V

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (70/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,226,839 (GRCm39)	R465*	probably null	Het
Abcg3	A	T	5: 105,114,649 (GRCm39)	D289E	probably damaging	Het
Ablim2	G	T	5: 36,024,115 (GRCm39)		probably null	Het
Acp1	A	T	12: 30,955,078 (GRCm39)	V36D	probably benign	Het
Adgrb1	T	A	15: 74,449,348 (GRCm39)		probably benign	Het
Akap6	G	A	12: 52,933,329 (GRCm39)	V274I	probably damaging	Het
Arhgap39	T	C	15: 76,609,715 (GRCm39)		probably benign	Het
Bmp1	G	A	14: 70,717,605 (GRCm39)	R789W	probably damaging	Het
Catspere2	A	T	1: 177,976,474 (GRCm39)		probably benign	Het
Cfhr2	T	A	1: 139,749,520 (GRCm39)	Y154F	possibly damaging	Het
Cilp2	T	C	8: 70,336,015 (GRCm39)	Y358C	probably damaging	Het
Cyp1a2	T	A	9: 57,584,516 (GRCm39)	K513*	probably null	Het
Dennd4a	G	T	9: 64,796,210 (GRCm39)	K745N	possibly damaging	Het
Dlg1	T	A	16: 31,655,085 (GRCm39)	S542T	probably benign	Het
Dmbt1	A	T	7: 130,696,465 (GRCm39)	I893F	possibly damaging	Het
Dnhd1	A	T	7: 105,353,130 (GRCm39)	E2761V	possibly damaging	Het
F11	T	C	8: 45,708,341 (GRCm39)	T40A	probably benign	Het
Fam227a	T	C	15: 79,520,936 (GRCm39)	D296G	possibly damaging	Het
Fance	C	T	17: 28,534,589 (GRCm39)		probably benign	Het
Gaa	A	G	11: 119,167,669 (GRCm39)	D149G	probably damaging	Het
Gapt	A	G	13: 110,490,522 (GRCm39)	M47T	possibly damaging	Het
Gm1110	T	C	9: 26,813,774 (GRCm39)	N202D	probably damaging	Het
Gm7535	T	C	17: 18,131,809 (GRCm39)		probably benign	Het
Gm973	T	A	1: 59,601,859 (GRCm39)	M491K	probably benign	Het
Gmnc	A	G	16: 26,782,695 (GRCm39)	V27A	probably benign	Het
Kif27	T	C	13: 58,440,915 (GRCm39)	T1167A	possibly damaging	Het
Klrg1	T	A	6: 122,248,331 (GRCm39)	*189C	probably null	Het
Lime1	T	A	2: 181,024,640 (GRCm39)	M98K	probably benign	Het
Lrp1	C	A	10: 127,391,965 (GRCm39)	A2867S	probably benign	Het
Lrrd1	G	A	5: 3,908,735 (GRCm39)	S669N	probably benign	Het
Mmel1	A	G	4: 154,976,456 (GRCm39)	N520S	probably damaging	Het
Nagpa	C	T	16: 5,021,596 (GRCm39)	A52T	probably benign	Het
Or1o3	A	G	17: 37,573,919 (GRCm39)	V212A	probably benign	Het
Or4c3	T	G	2: 89,851,528 (GRCm39)	D294A	probably benign	Het
Orai2	A	G	5: 136,190,355 (GRCm39)	S71P	probably damaging	Het
Pcbp1	A	T	6: 86,502,209 (GRCm39)	I230N	probably damaging	Het
Pcdh15	T	C	10: 74,138,986 (GRCm39)	L349P	probably damaging	Het
Pcdhb16	T	C	18: 37,613,011 (GRCm39)	V657A	probably benign	Het
Prdm15	G	T	16: 97,609,875 (GRCm39)	H590N	probably damaging	Het
Psg18	T	C	7: 18,079,874 (GRCm39)	I442M	probably damaging	Het
Pygm	C	A	19: 6,439,494 (GRCm39)	D279E	probably benign	Het
Rrn3	T	A	16: 13,610,798 (GRCm39)		probably null	Het
Sass6	T	C	3: 116,407,702 (GRCm39)	S273P	possibly damaging	Het
Schip1	A	G	3: 68,402,270 (GRCm39)	M116V	probably benign	Het
Sdc3	G	A	4: 130,546,087 (GRCm39)	V55I	unknown	Het
Serpinb8	T	A	1: 107,525,201 (GRCm39)	M1K	probably null	Het
Slc24a5	T	C	2: 124,927,739 (GRCm39)	I346T	probably damaging	Het
Slc35f3	T	A	8: 127,117,846 (GRCm39)	I335N	probably damaging	Het
Snapc2	T	A	8: 4,305,299 (GRCm39)	V147E	probably damaging	Het
Snx2	T	C	18: 53,322,784 (GRCm39)	S56P	possibly damaging	Het
Sptbn5	A	G	2: 119,915,812 (GRCm39)		probably benign	Het
Stk19	A	T	17: 35,040,400 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,911,702 (GRCm39)	E692G	probably benign	Het
Tet1	C	T	10: 62,674,450 (GRCm39)	V1209I	probably damaging	Het
Tln1	T	C	4: 43,539,406 (GRCm39)	T1639A	probably benign	Het
Tmem135	G	T	7: 88,845,335 (GRCm39)	Y165*	probably null	Het
Tmprss6	T	C	15: 78,336,707 (GRCm39)	T398A	probably damaging	Het
Ube4a	C	T	9: 44,851,258 (GRCm39)		probably null	Het
Vmn1r227	T	C	17: 20,955,499 (GRCm39)		noncoding transcript	Het
Wdhd1	T	C	14: 47,488,273 (GRCm39)	S745G	probably benign	Het
Xylt1	A	G	7: 117,191,263 (GRCm39)	H353R	probably damaging	Het
Zfp788	A	G	7: 41,298,980 (GRCm39)	T539A	probably benign	Het
Zfp866	A	T	8: 70,218,091 (GRCm39)	F510I	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
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'- CAGACATTTATTAGGTGGAGAAGGTC -3'
(R):5'- TTCCTGGTACCCGATTCAGG -3'

Sequencing Primer
(F):5'- AAGGTCCTAGGTTTTGTTATGGGAAG -3'
(R):5'- TGCTACATACTACAAGGGCTGACTG -3'

Posted On

2016-07-22