Mutagenetix > Incidental Mutation

Incidental Mutation 'R7956:Mrpl19'

649816

Institutional Source

Beutler Lab

Gene Symbol

Mrpl19

Ensembl Gene

ENSMUSG00000030045

Gene Name

mitochondrial ribosomal protein L19

Synonyms

Rpml15, D6Ertd157e, 9030416F12Rik, RLX1, MRP-L15

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R7956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81957851-81965958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81963981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 143 (N143S)

Ref Sequence

ENSEMBL: ENSMUSP00000032124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032124] [ENSMUST00000043195] [ENSMUST00000152996]

AlphaFold

Q9D338

Predicted Effect

probably benign
Transcript: ENSMUST00000032124
AA Change: N143S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: N143S

Domain	Start	End	E-Value	Type
low complexity region	60	74	N/A	INTRINSIC
Pfam:Ribosomal_L19	92	198	9e-19	PFAM
SCOP:d1fura_	214	282	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043195

SMART Domains

Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125

Domain	Start	End	E-Value	Type
low complexity region	16	24	N/A	INTRINSIC
low complexity region	43	66	N/A	INTRINSIC
low complexity region	97	111	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	193	210	N/A	INTRINSIC
coiled coil region	255	308	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
Pfam:GCFC	456	672	3e-34	PFAM
low complexity region	753	763	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152996

SMART Domains

Protein: ENSMUSP00000138136
Gene: ENSMUSG00000035125

Domain	Start	End	E-Value	Type
low complexity region	16	24	N/A	INTRINSIC
low complexity region	43	66	N/A	INTRINSIC
low complexity region	97	111	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	193	210	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	T	C	15: 84,950,762	S332G	possibly damaging	Het
Acaca	A	T	11: 84,320,580	N1573Y	probably damaging	Het
Arhgef33	A	G	17: 80,355,048	K220R	possibly damaging	Het
Arsj	A	T	3: 126,438,502	D299V	probably damaging	Het
Asic3	A	C	5: 24,416,977	I412L	possibly damaging	Het
AU018091	A	T	7: 3,161,255	L278Q	probably benign	Het
Baat	A	T	4: 49,490,117	F322L	probably damaging	Het
Bap1	A	G	14: 31,255,568	Q280R	probably benign	Het
Bet1	T	C	6: 4,079,965	E66G	probably benign	Het
Brpf1	T	C	6: 113,320,532	S1000P	probably benign	Het
Ccdc78	A	T	17: 25,787,117	E86D	possibly damaging	Het
Ccdc88a	T	G	11: 29,463,892	L810R	probably damaging	Het
Cd209f	T	C	8: 4,104,859	T80A	probably benign	Het
Chrna7	T	G	7: 63,103,793	K326T	possibly damaging	Het
Cldn15	T	C	5: 136,974,650	S169P	probably damaging	Het
Corin	A	G	5: 72,422,187	S281P	probably damaging	Het
Coro1a	A	G	7: 126,701,555	V200A	probably benign	Het
Crebrf	C	G	17: 26,742,657	P243A	probably benign	Het
Cxxc1	T	G	18: 74,218,983		probably null	Het
D10Jhu81e	T	C	10: 78,163,571		probably null	Het
Dera	C	T	6: 137,836,828	T282M	probably benign	Het
Dnah12	A	T	14: 26,709,272	D345V	probably damaging	Het
Dopey2	T	C	16: 93,771,028		probably null	Het
Dscr3	T	C	16: 94,501,646	N234D	probably damaging	Het
Dst	T	A	1: 34,225,618	V2623E	probably damaging	Het
Dysf	T	C	6: 84,008,996	F28L	probably benign	Het
Eogt	C	A	6: 97,143,965	V96F	probably benign	Het
Exoc1	A	T	5: 76,557,857	T464S	probably benign	Het
Fam234a	A	G	17: 26,216,577	Y278H	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gne	T	A	4: 44,044,962	I391L	probably benign	Het
Gpr1	T	C	1: 63,183,506	N190S	probably damaging	Het
Gpr22	G	T	12: 31,709,220	T301K	possibly damaging	Het
Gria1	A	G	11: 57,189,800	D203G	possibly damaging	Het
Grin2c	T	C	11: 115,250,148	E1048G	probably benign	Het
Hcn4	A	G	9: 58,844,173	T361A	unknown	Het
Herc2	T	C	7: 56,113,400	S918P	probably damaging	Het
Hr	A	G	14: 70,559,887	E520G	probably benign	Het
Idi1	T	G	13: 8,887,960	S147R	possibly damaging	Het
Irf9	G	A	14: 55,609,024	G464E	probably benign	Het
Kif16b	T	C	2: 142,862,470	Y63C	probably benign	Het
Klhl31	A	T	9: 77,650,621	E206D	probably benign	Het
Lrch3	A	G	16: 32,986,007	M454V	probably null	Het
Lrp1b	A	C	2: 41,282,149		probably null	Het
Lyst	A	G	13: 13,641,203	D1224G	possibly damaging	Het
Maf1	T	A	15: 76,352,496	F9L	probably benign	Het
Mllt10	T	A	2: 18,170,257	I542N	probably benign	Het
Myo5c	A	G	9: 75,252,563	N291S	probably benign	Het
Myocd	G	T	11: 65,269,668	L11M	possibly damaging	Het
Olfr1436	A	C	19: 12,298,302	F277V	probably damaging	Het
Olfr202	C	A	16: 59,284,493	M1I	probably null	Het
Olfr706	G	A	7: 106,885,971	T282I	possibly damaging	Het
Otogl	T	C	10: 107,878,026	I511V	possibly damaging	Het
Phf19	T	C	2: 34,906,555	Y121C	possibly damaging	Het
Pik3c2a	T	C	7: 116,350,115	T1346A	probably benign	Het
Polr2b	A	G	5: 77,320,245	T131A	probably benign	Het
Pom121	T	C	5: 135,383,961	T456A	unknown	Het
Pom121l2	T	C	13: 21,983,146	L529S	probably damaging	Het
Prss34	A	G	17: 25,299,579	I214V	probably benign	Het
Prss42	A	G	9: 110,799,334	Y182C	probably damaging	Het
Rapgef1	A	G	2: 29,699,015	I223V	probably benign	Het
Rbbp6	C	T	7: 123,001,338	P1523S	unknown	Het
Ripk1	T	G	13: 34,009,683	N9K	probably benign	Het
Six4	A	G	12: 73,103,761	L670S	possibly damaging	Het
Skint6	C	T	4: 112,846,697	D994N	possibly damaging	Het
Slc18a1	T	C	8: 69,038,814	D516G	probably benign	Het
Slc35g3	A	T	11: 69,760,797	Y121N	probably damaging	Het
Slc41a1	T	G	1: 131,844,028	S393R	possibly damaging	Het
Smg7	T	C	1: 152,844,202	H818R	probably benign	Het
Sorl1	A	G	9: 41,989,359	Y1686H	probably damaging	Het
Stab1	G	T	14: 31,160,024	T521K	probably benign	Het
Stard9	T	A	2: 120,705,371	Y4036*	probably null	Het
Tek	T	G	4: 94,799,343		probably null	Het
Tex35	C	T	1: 157,100,172	D143N	probably damaging	Het
Tgm1	T	A	14: 55,708,895	H428L	probably benign	Het
Tigd3	G	A	19: 5,892,566	P179S	possibly damaging	Het
Tnip3	T	A	6: 65,614,795		probably null	Het
Ttc1	A	G	11: 43,736,413		probably null	Het
Utp20	C	T	10: 88,782,614	E1175K	probably benign	Het
Vmn1r151	A	T	7: 22,499,660	S7T	possibly damaging	Het
Vmn1r34	T	A	6: 66,637,793		probably benign	Het
Vmn2r74	A	T	7: 85,955,958	M494K	probably benign	Het
Vsig10l	T	C	7: 43,468,070	S594P	probably benign	Het
Zfp937	A	G	2: 150,239,156	S369G	probably benign	Het

Other mutations in Mrpl19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Mrpl19	APN	6	81965872	missense	probably benign	0.02
IGL00563:Mrpl19	APN	6	81965872	missense	probably benign	0.02
IGL02113:Mrpl19	APN	6	81965915	missense	probably benign
IGL02116:Mrpl19	APN	6	81965777	missense	probably benign	0.41
IGL02256:Mrpl19	APN	6	81964319	missense	probably benign	0.06
IGL02347:Mrpl19	APN	6	81962011	missense	probably damaging	0.99
IGL02415:Mrpl19	APN	6	81963961	missense	probably benign	0.29
IGL02825:Mrpl19	APN	6	81965815	missense	probably benign	0.25
IGL03189:Mrpl19	APN	6	81961993	nonsense	probably null
R1824:Mrpl19	UTSW	6	81964079	splice site	probably null
R2310:Mrpl19	UTSW	6	81964073	splice site	probably null
R3176:Mrpl19	UTSW	6	81964066	missense	probably damaging	0.99
R3276:Mrpl19	UTSW	6	81964066	missense	probably damaging	0.99
R3821:Mrpl19	UTSW	6	81962006	nonsense	probably null
R4705:Mrpl19	UTSW	6	81964285	missense	probably damaging	0.99
R4736:Mrpl19	UTSW	6	81964348	missense	probably damaging	1.00
R5464:Mrpl19	UTSW	6	81962011	missense	probably damaging	0.99
R7408:Mrpl19	UTSW	6	81965812	missense	possibly damaging	0.65
R7835:Mrpl19	UTSW	6	81962126	missense	probably damaging	1.00
R8432:Mrpl19	UTSW	6	81962155	missense	probably damaging	1.00
Z1177:Mrpl19	UTSW	6	81964310	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGTCCTAATGGGTGTTGCC -3'
(R):5'- GGCGCTAGTTTTCATTGCC -3'

Sequencing Primer
(F):5'- GTGTTGCCCTATAATAAAAGAAGCCC -3'
(R):5'- GCCTTCAGATTATTGTTCAGATGTC -3'

Posted On

2020-09-15